SLC22A5 Database

  • Reference sequences were NC_000005.8 and NM_003060.2. cDNA number 1 is the "A" of the start codon.
  • Frameshift is documented by the original amino acid followed by the codon number and "fs" (ex. Leu159 fs).
  • Click any Column Header to sort the display. Mouse over Comments icon for additional details.
  • "Live Search" any term in the search box, such as "exon" , "missense", "benign" , etc...
  • Transport Activity - Assayed in patient cultured fibroblasts (% of normal).
  • Expression - Assayed in chinese hamster ovary cells (CHO) expressing mutant OCTN2 (% of wild type).


301 variants found

Genomic Position Location Mutation Type Nucleotide Change Protein Change Transport Activity Expression Classification References Comments
 
131733357 5'UTR c.-207G>C Benign Peltekova (2004)
131733379 5'UTR c.-185A>C 33 Uncertain Calderon et.al unpublished
131733415 5'UTR c.-149G>A 33 Uncertain Calderon et.al unpublished
131733473 5'UTR Deletion c.-91_22del Pathogenic Nezu (1999)
131733486 5'UTR c.-78C>T 33 Benign Koizumi (1999)
131733487 5'UTR c.-77G>A 33 Benign Koizumi (1999)
131733526 5'UTR c.-38A>C Benign Calderon et.al unpublished
131733566 Exon 1 Missense c.3G>T p.M1I <5 Likely Pathogenic Dobrowolski (2005)
131733567 Exon 1 Insertion c.4_5insC p.R2PfsX136 Pathogenic Nezu (1999)
131733575 Exon 1 Nonsense c.12C>G p.Y4X <1 Pathogenic Wang (2001)
131733596 Exon 1-8 Deletion c.33_1427del p.G12_L477del 2 Pathogenic Lamhonwah (1998)
131733597 Exon 1 Missense c.34G>A p.G12S VUS Li (2010)
131733597 Exon 1 Missense c.34G>A p.G12S VUS Calderon et.al unpublished
131733606 Exon 1 Missense c.43G>T p.G15W 3 Likely Pathogenic Calderon et.al unpublished
131733614 Exon 1 Missense c.51C>G p.F17L 14 18 Pathogenic Calderon et.al unpublished
131733619 Exon 1 Missense c.56G>C p.R19P <5 4 Pathogenic Wang (2001)
131733622 Exon 1 Missense c.59T>A p.L20H VUS Calderon et.al unpublished
131733627 Exon 1 Deletion c.67_69delTTC p.F23del 2 Pathogenic Lamhonwah (2002)
131733646 Exon 1 Missense c.83G>T p.S28I <12 Likely Pathogenic Rahbeeni (2002)
131733658 Exon 1 Missense c.95A>G p.N32S 21 0.4 Pathogenic Lamhonwah (2002)
131733694 Exon 1 Missense c.131C>T p.A44V VUS Calderon et.al unpublished
131733699 Exon 1 Missense c.136C>T p.P46S <5 <5 Pathogenic Schimmenti (2007)
131733699 Exon 1 Missense c.136C>G p.P46S 6 Pathogenic Calderon et.al unpublished
131733699 Exon 1 Missense c.136C>G p.P46S Pathogenic Calderon et.al unpublished
131733699 Exon 1 Missense c.136C>G p.P46S Pathogenic Calderon et.al unpublished
131733699 Exon 1 Missense c.136C>G p.P46S Pathogenic Calderon et.al unpublished
131733700 Exon 1 Missense c.137C>T p.P46L 7 Likely Pathogenic Calderon et.al unpublished
131733711 Exon 1 Deletion c.148delT p.C50AfsX9 Pathogenic Carducci (unpublished)
131733770 Exon 1 Silent c.207G>C p.L69L Benign Gazouli (2005)
131733795 Exon 1 Deletion c.232delC p.H79TfsX51 <1 Pathogenic Amat di San Filippo (2006)
131733809 Exon 2 Silent c.246C>T p.R82R Benign Calderon et.al unpublished
131733811 Exon 1 Missense c.248G>T p.R83L 0 <1 Pathogenic Makhseed (2004)
131733811 Exon 1 Missense c.248G>T p.R83L Pathogenic Calderon et.al unpublished
131733817 Exon 1 Insertion c.254_264dupGGCTCGCCACC p.I89GfsX45 <5 Pathogenic Wang (2001)
131733817 Exon 1 Insertion c.254_264dupGGCTCGCCACC p.I89GfsX45 Pathogenic Calderon et.al unpublished
131733817 Exon 1 Insertion c.254_264dupGGCTCGCCACC p.I89GfsX45 Pathogenic Li (2010)
131733817 Exon 1 Insertion c.265_266insGGCTCGCCACC p.I89GfsX45 Pathogenic Calderon et.al unpublished
131733841 Exon 1 Missense c.278C>G p.S93W Pathogenic Calderon et.al unpublished
131733846 Exon 1 Missense c.283C>G p. L95V <2 Pathogenic Calderon et.al unpublished
131733848 Exon 1 Silent c.285C>T p.L95L Benign Tang (2002)  
131733850 Exon 1 Missense c.287G>C p.G96A VUS Calderon et.al unpublished
131733854 Exon 1 Silent c.291C>T p.L97L Benign Tang (1999)
131733907 Exon 1 Missense c.344A>G p.D115G <2 Pathogenic Calderon et.al unpublished
131733927 Exon 1 Missense c.364G>T p.D122Y 53% VUS Calderon et.al unpublished
131733927 Exon 1 Missense c.364G>T p.D122Y VUS Calderon et.al unpublished
131733931 Exon 2 Missense c.368T>G p.V123G VUS Li (2010)
131733973 Intron 1 c.393+17G>A 50 Benign Calderon et.al unpublished
131741971 Exon 2 Nonsense c.396G>A p.W132X <5 Pathogenic Tang (1999)
131741989 Exon 2 Silent c.414C>T p.D138D 45 Benign Calderon et.al unpublished
131741990 Exon 2 Missense c.415G>A p.D139N VUS Calderon et.al unpublished
131741999 Exon 2 Missense c.424G>T p.A142S 5 45 Pathogenic Amat di San Filippo (2006)
131741999 Exon 2 Missense c.424G>T p.A142S Calderon et.al unpublished
131741999 Exon 2 Missense c.424G>T p.A142S Calderon et.al unpublished
131741999 Exon 2 Missense c.424G>T p.A142S Calderon et.al unpublished
131741999 Exon 2 Missense c.424G>T p.A142S Calderon et.al unpublished
131742005 Exon 2 Missense c.430C>T p.L144F Benign Calderon et.al unpublished
131742009 Exon 2 Missense c.430C>T p.L144F Benign Calderon et.al unpublished
131742026 Exon 2 Missense c.451G>A p.V151M 6 Likely Pathogenic Calderon et.al unpublished
131742028 Exon 2 Silent c.453G>A p.V151V 6 Benign Calderon et.al unpublished
131742030 Exon 2 Missense c.455G>A p.G152D VUS Calderon et.al unpublished
131742033 Exon 2 Deletion c.458_459delTG p.V153AfsX41 <5 Pathogenic Dobrowolski (2005)
131747745 Exon 3 Missense c.505C>T p.R169W <5 <1 Pathogenic Wang (2000)
131747746 Exon 3 Missense c.506G>A p.R169Q <5 Likely Pathogenic Burwinkel (1999)
131747775 Exon 3 Missense c.535A>T p.M179L 92 Benign Koizumi (1999)
131747797 Exon 3 Missense c.557T>C p.L186P VUS Calderon et.al unpublished
131747869 Exon 3 Missense c.629A>G p.N210S Pathogenic Calderon et.al unpublished
131747872 Exon 3 Missense c.632A>G p.Y211C <10 Likely Pathogenic Vaz (1999)
131747881 Exon 3 Missense c.641C>T p.A214V Likely Benign Calderon et.al unpublished
131747892 Exon 3 Insertion c.652_653ins
TATGGCCATCAGGTTGGAG
p.G218VfsX68 2 Pathogenic Lamhonwah & Tein (1998)
131747893 Intron 3 Splice Site c.652+1G>A 2 Pathogenic Lamhonwah (2002)
131747897 Intron 3 c.652+6A>G Polymorphism Calderon et.al unpublished
131747969 Intron 3 c.652+77A>G Polymorphism Calderon et.al unpublished
131748917 Intron 3 Splice Site c.653-2A>C 8 Pathogenic Calderon et.al unpublished
131748919 Exon 4 Deletion c.653_824del p.T219SfsX20 2 Pathogenic Lamhonwah & Tein (1998)
131748944 Exon 4 Missense c.674C>T p.S225L VUS Calderon et.al unpublished
131748950 Exon 4 Missense c.680G>A p.R227H Likely Pathogenic Li (2010)
131748962 Exon 4 Missense c.692C>T p.S231F VUS Calderon et.al unpublished
131748965 Exon 4 Missense c.695C>T p.T232M 5 2 Pathogenic Calderon et.al unpublished
131748965 Exon 4 Missense c.695C>T p.T232M Calderon et.al unpublished
131748965 Exon 4 Missense c.695C>T p.T232M Calderon et.al unpublished
131748965 Exon 4 Missense c.695C>T p.T232M Calderon et.al unpublished
131748991 Exon 4 Missense c.725G>T p.G242V <5 <1 Pathogenic Wang (2000)
131749026 Exon 4 Nonsense c.760C>T p.R254X <1 Pathogenic Tang (2002)
131749027 Exon 4 Missense c.761G>A p.R254Q VUS Calderon et.al unpublished
131749027 Exon 4 Missense c.761G>A p.R254Q VUS Calderon et.al unpublished
131749027 Exon 4 Missense c.761G>A p.R254Q VUS Calderon et.al unpublished
131749027 Exon 4 Missense c.761G>A p.R254Q VUS Calderon et.al unpublished
131749027 Exon 4 Missense c.761G>A p.R254Q VUS Calderon et.al unpublished
131749034 Exon 4 Nonsense c.768G>A p.W256X 0 Pathogenic Amat di San Filippo (2006)
131749035 Exon 4 Missense c.769C>T p.R257W <50 0 Pathogenic Li (2011)
131749072 Exon 4 Deletion c.806delT p.L269HfsX27 2 Pathogenic Cederbaum (2002)
131749073 Exon 4 Silent c.807G>A p.L269L Benign Tang (2002)  
131749104 Intron 4 c.824+13C>T Polymorphism Tang (2002)
131750616 Exon 5 Nonsense c.825G>A p.W275X 5 Pathogenic Dobrowolski (2005)
131750629 Exon 5 Missense c.839C>T p.S280F <1 <1 Pathogenic Amat di San Filippo (2006)
131750629 Exon 5 Missense c.839C>T p.S280F Pathogenic
131750630 Exon 5 Deletion c.839delC p.R282NfsX14 1 Pathogenic Lamhonwah (2002)
131750635 Exon 5 Nonsense c.844C>T p.R282X <1 Pathogenic Wang (1999)
131750636 Exon 5 Missense c.845G>A p.R282Q <10 11 Pathogenic Amat di San Filippo (2006)
131750638 Exon 5 Missense c.847T>C p.W283R <1 Pathogenic Mayatepek (2000)
131750638 Exon 5 Missense c.847T>A p.W283R <10 <5 Pathogenic Amat di San Filippo (2006)
131750640 Exon 5 Missense c.849G>T p.W283C 2 Pathogenic Koizumi (1999)
131750655 Exon 5 Nonsense c.865C>T p.R289X <5 Pathogenic
131750656 Exon 5 Nonsense c.865C>T p.R289X <5 Pathogenic Dobrowolski (2005)
131750693 Exon 5 Missense c.902C>A p.A301D <5 4 Pathogenic Wang (2000)
131750694 Exon 5 Missense c.904A>G p.K302E VUS Calderon et.al unpublished
131750724 Exon 5 Missense c.934A>G p.I312V Benign Li (2010)
131752568 Exon 6 Deletion c.1009delA p.T337RfsX12 16-20 Pathogenic Lamhonwah (2002)
131752602 Exon 6 Missense c.1043T>C p.I348T Pathogenic Calderon et.al unpublished
131752611 Exon 6 Missense c.1051T>C p.W351R <5 <1 Pathogenic Wang (2000)
131754278 Intron 6 Splice Site c.1053-2A>C Pathogenic Calderon et.al unpublished
131754299 Exon 7 Missense c.1072T>A p.Y358N VUS Calderon et.al unpublished
131754305 Exon 7 Duplication c.1078_1083dupGGGCTT p.G360_L361dup Pathogenic Calderon et.al unpublished
131754315 Exon 7 Missense c.1088T>C p.L363P VUS Akpinar (2010)
131754389 Exon 7 Nonsense c.1161T>G p.Y387X Pathogenic Tang (2002)
131754409 Exon 7 Deletion c.1181_1183delTGC p.L394del 7 Pathogenic Calderon et.al unpublished
131754421 Exon 7 Missense c.1193C>T p.P398L <1 <1 Pathogenic Amat di San Filippo (2006)
131754423 Exon 7 Missense c.1195C>T p.R399W 36 7 Pathogenic Calderon et.al unpublished
131754423 Exon 7 Missense c.1195C>T p.R399W Calderon et.al unpublished
131754424 Exon 7 Missense c.1196G>A p.R399Q <1 <5 Pathogenic Wang (2001)
131754430 Exon 7 Insertion c.1202_1203insA p.Y401X <5 Pathogenic Wang (1999)
131754477 Exon 7 Insertion c.1250het_dupT p.M417IfsX106 Pathogenic Calderon et.al unpublished
131754498 Intron 7 Deletion c.1267del+3_+23 5 Pathogenic Dobrowolski (2005)
131755990 Intron 7 c.1268-34A>G Benign Calderon et.al unpublished
131756058 Exon 8 Deletion c.1302delG p.G434AfsX24 <5 Pathogenic Wang (1999)
131756075 Exon 8 Missense c.1319C>T p.T440M <1 <1 Pathogenic Lamhonwah (2002)
131756092 Exon 8 Missense c.1336G>T p.V446F <1 Pathogenic Mayatepek (2000)
131756096 Exon 8 Missense c.1340A>G p.Y447C <15 0 Pathogenic Rahbeeni (2002)
131756098 Exon 8 Missense c.1342G>T p.V448L <1 VUS Calderon et.al unpublished
131756100 Exon 8 Missense c.1345T>G p.Y449D 50 11 Pathogenic Amat di San Filippo (2004)
131756101 Exon 8 Missense c.1345T>G p.Y449D 50 12 Pathogenic Amat di San Filippo (2004)
131756110 Exon 8 Missense c.1354G>A p.E452K <5 <5 Pathogenic Wang (2000)
131756119 Exon 8 Missense c.1364C>G p.P455R VUS Calderon et.al unpublished
131756148 Exon 8 Indel c.1392_1409delinsCA p.V465TfsX29 <1 Pathogenic Calderon et.al unpublished
131756156 Exon 8 Missense c.1400C>G p.S467C <8 11 (HEK293) Pathogenic Koizumi (1999)
131756159 Exon 8 Missense c.1403C>G p.T468R <6 <1 Pathogenic Lamhonwah (2002)
131756165 Exon 8 Missense c.1409C>T p.S470F 7.1 Likely Pathogenic Lamhonwah (2002)
131756168 Exon 8 Missense c.1412G>A p.R471H <10 <2 Pathogenic Spiekerkoetter (2003)
131756189 Exon 8 Missense c.1433C>T p.P478L 5 <1 Pathogenic Tang (1999)
131757257 Exon 9 Missense c.1441G>T p.V481F >60 Slight reduction in transport activity Urban (2006)
131757267 Intron 8 Splice Site c.1451-1G>A <10 Pathogenic Nezu (1999)
131757278 Exon 9 Missense c.1462C>T p.R488C <4 Pathogenic Schimmenti (2007)
131757279 Exon 9 Missense c.1463G>A p.R488H 5 47 Pathogenic Amat di San Filippo (2006)
131757279 Exon 9 Missense c.1463G>A p.R488H
131757279 Exon 9 Missense c.1463G>A p.R488H
131757279 Exon 9 Missense c.1463G>A p.R488H
131757279 Exon 9 Missense c.1463G>A p.R488H
131757372 Exon 9 Deletion c.1556dupACAC p.I521HX3 <5 Pathogenic Schimmenti (2007)
131757737 Intron 9 Splice Site c.1586+1G>T Pathogenic Calderon et.al unpublished
131757785 Exon 10 Frameshift c.1596_1597delCA p.H532QfsX21 Pathogenic Calderon et.al unpublished
131757834 Exon 10 Missense c.1645C>T p.P549S Benign Dobrowolski (2005)
131757834 Exon 10 Missense c.1645C>T p.P549S Benign Calderon et.al unpublished
131757969 Intron 9 c.1587-38A>C Benign Calderon et.al unpublished
131758141 3'UTR c.1674+47C>T VUS Calderon et.al unpublished
3'UTR c.1674+47C>T VUS This benign variant was seen in various patient samples as follows: first patient, Caucasian female (identified through via an abnormal NBS of her child) was heterozygous for p.T232M and c.1674+47C>T (mother is currently on carnitine supplementation); sec
5'UTR c.-207G>C Benign Polymorphism within the promoter region shown to reduce expression of the protein by two-fold. This polymorphism is thought to be associated with Crohns disease. Grube et. al (2006, Circulation 113: 1114-1122) reported this polymorphism was associated wit http://www.ncbi.nlm.nih.gov/pubmed/15107849
5'UTR c.-185A>C Uncertain Detected in two samples at our laboratory with c.-149G>A. One of the samples also had p.V151V and transport activity in fibroblasts at 7.7. 33 http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
5'UTR c.-149G>A Uncertain Detected in two samples at our laboratory with c.-185A>C. One of the samples also had p.V151V and transport activity in fibroblasts at 7.7. 33 http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
5'UTR c.-91_22del Pathogenic Deletion Two siblings were homozygous for this 113 bp deletion (parents and asymptomatic siblings were heterozygous). Two additional siblings died within six months after birth (genotype was not tested). http://www.ncbi.nlm.nih.gov/pubmed/9916797
5'UTR c.-78C>T Benign This variant was found in in a haplotype with c.-77G>A in control individuals with normal serum free-carnitine measurements (allele frequency = 32%). Additionally, p.W132X was found in linkage disequilibrium with this haplotype in individuals with low fre 33 http://www.ncbi.nlm.nih.gov/pubmed/10545605
5'UTR c.-77G>A Benign This variant was found in in a haplotype with c.-77G>A in control individuals with normal serum free-carnitine measurements (allele frequency = 32%). Additionally, p.W132X was found in linkage disequilibrium with this haplotype in individuals with low fre 33 http://www.ncbi.nlm.nih.gov/pubmed/10545605
5'UTR c.-38A>C Benign All of the samples (patient and controls) tested at our laboratory were homozygous C at this position. http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 3 c.573delG pathogenic p.N192IfsX12 Frame-shift nonsense 14-year old male presenting with cardiomyopathy was heterozygous for p.W117X and p.N192IfsX12. https://www.ncbi.nlm.nih.gov/m/pubmed/20574985/?i=5&from=/23090741/related
Exon 1 c.3G>T Likely Pathogenic p.M1I Missense Chinese patient was heterozygous for this mutation and p.R282X. <5 http://www.ncbi.nlm.nih.gov/pubmed/15714519
Exon 1 c.4_5insC Pathogenic p.R2PfsX136 Insertion Patient is compound heterozygous for this mutation and p.W132X http://www.ncbi.nlm.nih.gov/pubmed/9916797
Exon 1 c.12C>G Pathogenic p.Y4X Nonsense Pakistani patient was homozygous for this mutation. Grandparents on one side of the family were siblings and on the other side are also related. Sibling of patient died at 7 months of age with SCD presentations and other two siblings are carriers. <1 http://www.ncbi.nlm.nih.gov/pubmed/11715001
Exon 1 c.34G>A VUS p.G12S Missense 5 yr. old male presenting with SIDS-like episode was heterozygous for p.G12S . This variant is predicted to be pathogenic by PolyPhen and SIFT (computer based algorithms). http://www.ncbi.nlm.nih.gov/pubmed/20574985
Exon 1 c.43G>T VUS p.G15W Missense Indian female identified due to infant having abnormal NBS. This mother was homozygous for p.G15W and had low plasma total, free, and acyl-carnitine. This mutation was not detected in the child. https://www.ncbi.nlm.nih.gov/m/pubmed/20574985/?i=5&from=/23090741/related
Exon 1 c.51C>G Pathogenic p.F17L Missense 18 Newborn female with abnormal NBS was heterozygous for p.F17L inherited from mom. 14 http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 1 c.56G>C Pathogenic p.R19P Missense 4 Italian patient was heterozygous for this mutation and an 11 bp duplication in exon 1 resulting in p.I89GfsX45. <5 http://www.ncbi.nlm.nih.gov/pubmed/11715001
Exon 1 c.59T>A VUS p.L20H Missense African American female with abnormal NBS was heterozygous for his variant and the polymorphisms c.-77G>A, c.-78C>T, c.652+6A>G (homozygous). http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 1 c.67_69delTTC Pathogenic p.F23del Deletion This deletion was also found in an affected male patient and sister. Patient also carried c.632A>G, p.Y211C. Sibling was tested for familial mutations only. 2 http://www.ncbi.nlm.nih.gov/pubmed/12210323
Exon 1 c.83G>T Likely Pathogenic p.S28I Missense Patient from Saudi Arabia was homozygous for this mutation. <12 http://www.ncbi.nlm.nih.gov/pubmed/12408185
Exon 1 c.95A>G Pathogenic p.N32S Missense 0.4 Two patients of Danish descent were reported to be homozygous for N32S (Christensen et al. 2000; Journal of Inherited Metabolic Disease 23 (Supplement 1): p.117 abstract only). Also detected with P46S (both heterozygous) in a patient with arrhythmias and 21 http://www.ncbi.nlm.nih.gov/pubmed/12210323
Exon 1 c.131C>T VUS p.A44V Missense Caucasian adult female was heterozygous for p.A44V and p.[A142S,R488H]; and homozygous for common polymorphisms (c.285T>C, c.652+6A>G, c.807A>G, c.824+13C>T). http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 1 c.136C>T Pathogenic p.P46S Missense <5 Identified in two mothers via newborn screening. Patient 1 was heterozygous for mutation and p.R282X. Patient 2 was heterozygous for mutation and p.I521HX3. Additional three cases reported in house, each detected with one of the following mutations: p.T23 <5 http://www.ncbi.nlm.nih.gov/pubmed/17126586
Exon 1 c.136C>G Pathogenic p.P46S Missense Asymptomatic female with abnormal NBS was heterozygous for p.R254Q and P46S. Patient had low free and total plasma carnitine, normal urine free carnitine, and low urine total carnitine. http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 1 c.137C>T Likely Pathogenic p.P46L Missense This mutation was detected in a patient sample with p.L394del (both heterozygous). 7 http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 1 c.148delT Pathogenic p.C50AfsX9 Deletion Caucasian female of Italian origin identified via newborn screening, was compound heterozygote: c.[-149G>A];[148delT] (confirmed in parents). Patient is asymptomatic at 8 months. mailto:carla.carducci@uniroma1.it
Exon 1 c.196A>C VUS p.T66P Missense 1-month old female identified with abnormal NBS and presented with low free plasma carnitine was heterozygous for p.T66P. http://www.ncbi.nlm.nih.gov/pubmed/20574985
Exon 1 c.207G>C Benign p.L69L Silent Reported to be associated with Crohns disease. http://www.ncbi.nlm.nih.gov/pubmed/16437728
Exon 1 c.224G>C VUS p.R75P Missense 3-month old female identified with abnormal NBS was heterozygous for p.R75P and p.A142S. http://www.ncbi.nlm.nih.gov/pubmed/20574985
Exon 1 c.232delC Pathogenic p.H79TfsX51 Deletion Pakistani patient was homozygous for this mutation. Reported as p.P78fsX129 <1 http://www.ncbi.nlm.nih.gov/pubmed/16652335
Exon 1 c.248G>T Pathogenic p.R83L Missense Pakistani female with abnormal NBS was homozygous for p.R83L (parents were half siblings as grandmothers were identical twins). http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 1 c.254_264dupGGCTCGCCACC Pathogenic p.I89GfsX45 Insertion Identified as c.265_266insGGCTCGCCACC but same as c.254_264dupGGCTCGCCACC first described by Wang (2001). Li et al 2010 identified this mutation in a fifteen month old female with no other variants (patient was identified with abnormal NBS). http://www.ncbi.nlm.nih.gov/pubmed/20574985
Exon 1 c.265_266insGGCTCGCCACC Pathogenic p.I89GfsX45 Insertion Caucasian female with abnormal NBS, low total/free plasma carnitine and normal carnitine excretion in urine, was heterozygous for p.G12S, p.R82R and p.I89fs (c.265_266insGGCTCGCCACC). http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 1 c.278C>G Pathogenic p.S93W Missense Asian female with abnormal NBS and low total/free plasma carnitine was heterozygous for p.S93W and p.S467C. http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 1 c.283C>G Pathogenic p. L95V Missense Burmese female identified with abnormal NBS was homozygous for p.D115G and p.L95V and had low total and free plasma carnitine. <2 http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 1 c.285C>T Benign p.L95L Silent http://www.ncbi.nlm.nih.gov/pubmed/12204000
Exon 1 c.287G>C VUS p.G96A Missense 15-month female identified with abnormal NBS and presenting with low total and free plasma carnitine was heterozygous for p.G96A. http://www.ncbi.nlm.nih.gov/pubmed/20574985
Exon 1 c.291C>T Benign p.L97L Silent Documented as 506 C/T http://www.ncbi.nlm.nih.gov/pubmed/10072434
Exon 1 c.344A>G Pathogenic p.D115G Missense Burmese female identified with abnormal NBS was homozygous for p.D115G and p.L95V and had low total and free plasma carnitine. <2 http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 1 c.350G>A Pathogenic p.W117X Nonsense 14-year old male presenting with cardiomyopathy was heterozygous for p.W117X and p.N192IfsX12. http://www.ncbi.nlm.nih.gov/pubmed/20574985
Exon 1 c.364G>T VUS p.D122Y Missense 19-year old female presenting with cardiomyopathy and myopathy was heterozygous for p.D122Y. This variant is predicted to be pathogenic by Poly-Phen and SIFT analysis (computer based algorithms). http://www.ncbi.nlm.nih.gov/pubmed/20574985
Exon 1-8 c.33_1427del Pathogenic p.G12_L477del Deletion Large deletion found in two patients. Patient 1 of Italian descent was heterozygous for this mutation and p.G218VfsX68. Patient 2 of Mexican descent was heterozygous for this mutation and p.T219SfsX20. 2 http://www.ncbi.nlm.nih.gov/pubmed/9826541
Exon 10 c.1596_1597delCA Pathogenic p.H532QfsX21 Frameshift Caucasian female infant presenting with low free and total plasma carnitine which improved after supplementation was heterozygous for this frameshift mutation. http://www.ncbi.nlm.nih.gov/pubmed/15714519
Exon 10 c.1645C>T VUS p.P549S Missense 2-year old male presenting with developmental delay, failure to thrive, and myopathy was heterozygous for p.P549S. https://www.ncbi.nlm.nih.gov/m/pubmed/20574985/?i=5&from=/23090741/related
Exon 2 c.246C>T Benign p.R82R Silent Caucasian female identified with abnormal NBS had a family history of low plasma carnitine levels (mother and maternal grandmother) and was heterozygous for p.R82R and p.I89GfsX45. Patient's free and total plasma carnitine were low even after supplementat http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 2 c.368T>G VUS p.V123G Missense Asymptomatic adult female identified with child having abnormal NBS was heterozygous for p.V123G. http://www.ncbi.nlm.nih.gov/pubmed/20574985
Exon 2 c.396G>A Pathogenic p.W132X Nonsense Chinese patient was heterozygous for this mutation and p.P478L (patient died at 6 months). Koizumi et al. found this mutation in three individuals of Japanese origin (1999, Hum. Molec. Gen. 8 (12):2247-2254). Nezu et al (1999, Nature Genetics 21 (1): 91-9 <5 http://www.ncbi.nlm.nih.gov/pubmed/10072434
Exon 2 c.414C>T Benign p.D138D Silent Caucasian male was heterozygous for p.D138D and c.1674+47C>T. p.D138D is likely a benign variant. 45 http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 2 c.415G>A VUS p.D139N Missense Male patient presenting with irregular heartbeat and low free and total plasma carnitine was heterozygous for p.D139N. http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 2 c.424G>T p.A142S Missense Caucasian adult male presenting with fatigue and weakness was heterozygous for p.[A142S, R488H]. http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 2 c.428C>T VUS p.P143L Missense 2-month old female identified with abnormal NBS, asymptomatic mother and sister were heterozygous for p.P143L (infant and mother had low total and free plasma carnitine, sister had low total plasma carnitine). http://www.ncbi.nlm.nih.gov/pubmed/20574985
Exon 2 c.430C>T Benign p.L144F Missense One copy of p.L144F was detected in a Middle eastern male (with a family history for primary carnitine deficiency) with confirmed diagnosis of cystic fibrosis and presenting with pnemonia, other pulmonary issues, and hepatomegaly. Patient had normal total http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 2 c.430C>T Benign p.L144F Missense Detected in a control sample with no information on transport activity in fibroblasts. http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 2 c.451G>A Likely Pathogenic p.V151M Missense Caucasian patient with abnormal NBS, low free and total plasma carnitine levels, and low transport activity in fibroblasts (suggestive of PCD). This patient was heterozygous for this mutation and p.P46S. 6 http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 2 c.453G>A Benign p.V151V Silent Detected in two patient samples but not in controls. cDNA studies of p.V151V does not suggest any impact on mRNA levels. One of the patient samples also had p.T440M and transport activity <6% of normal control. 6 http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 2 c.455G>A VUS p.G152D Missense Hispanic female infant identified with abnormal NBS had low total and free plasma carnitine was heterozygous for p.G152D and p.R289X. http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 2 c.458_459delTG Pathogenic p.V153AfsX41 Deletion Australian patient of Anglo-Celtic ancestry was heterozygous for this mutation (documented as 457_458delTG) and p.R289X. <5 http://www.ncbi.nlm.nih.gov/pubmed/15714519
Exon 3 c.505C>T Pathogenic p.R169W Missense <1 Patient of italian descent was homozygous for this mutation. Another patient was heterozygous for this mutation and W351R. Caucasian female presenting with developmental delay and low total and free plasma carnitine was heterozygous for p.R169W. (Daughter <5 http://www.ncbi.nlm.nih.gov/pubmed/11058897
Exon 3 c.506G>A Likely Pathogenic p.R169Q Missense This mutation was found together with R282X in a patient of German descent presenting with severe dilated cardiomyophathy at age 2. Patient responded to carnitine supplementation and dilated cardiomyopathy was resolved. <5 http://www.ncbi.nlm.nih.gov/pubmed/10425211
Exon 3 c.529A>G VUS p.M177V Missense 2-month old male identified with abnormal NBS was heterozygous for p.M177V and p.N32S. http://www.ncbi.nlm.nih.gov/pubmed/20574985
Exon 3 c.535A>T Benign p.M179L Missense 92 Found in one individual of Japanese descent (carrier). Serum free carnitine levels were <5% normal, however, in vitro expression of variant in CHO and HEK cells did not show significant impairment of transport activity. http://www.ncbi.nlm.nih.gov/pubmed/10545605
Exon 3 c.557T>C VUS p.L186P Missense African-American/Caucasian patient with abnormal NBS was heterozygous for p.L186P, p.P398L, and p.P549S and had low total/free plasma carnitine. Other benign variants identified were p.L95L (c.285C>T), c.393+17G>A c.1268-34A>G, c.1587-38A>C. http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 3 c.557T>C VUS p.L186P Missense 6-week old female identified with abnormal NBS and presenting with low total and free plasma carnitine was heterozygous for p.L186P. This variant is predicted to be pathogenic by PolyPhen and SIFT (computer based algorithm). https://www.ncbi.nlm.nih.gov/m/pubmed/20574985/?i=5&from=/23090741/related
Exon 3 c.629A>G Pathogenic p.N210S Missense Asian/Oriental patient with abnormal NBS was heterozygous for this mutation and p.A214V. Patient had low total/free plasma carnitine levels. http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 3 c.632A>G Likely Pathogenic p.Y211C Missense Two unrelated patients were found to be homozygous for this mutation. Patients were from Morocco and Cape Verde respectively. <10 http://www.ncbi.nlm.nih.gov/pubmed/10480371
Exon 3 c.641C>T Likely Benign p.A214V Missense Detected in two patient samples. One sample was also heterozygous for p.R83L. Second sample was heterozygous for p.A214V, p.V448L, and p.H79fsX50 (p.A214V & p.V448L thought to be in cis). Transport activity in second patient's fibroblasts was <1. A third http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 3 c.652_653ins
TATGGCCATCAGGTTGGAG
Pathogenic p.G218VfsX68 Insertion Patient of Italian descent was heterozygous for this mutation and p.G12_L477del (large deletion). 2 http://www.ncbi.nlm.nih.gov/pubmed/9826541
Exon 4 c.653_824del Pathogenic p.T219SfsX20 Deletion Patient of Mexican descent was heterozygous for this mutation and p.G12_L477del. 2 http://www.ncbi.nlm.nih.gov/pubmed/9826541
Exon 4 c.674C>T VUS p.S225L Missense Caucasian/Hispanic was heterozygous for p.S225L. This patient was first identified with abnormal NBS, and later presented with low free/total plasma carnitine, gross motor and speech delay. http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 4 c.680G>A VUS p.R227H missense 5-month old male was heterozygous for p.R227H and p.T232M. p.R227H is predicted to be pathogenic by PolyPhen and SIFT (computer bases algorithms). https://www.ncbi.nlm.nih.gov/m/pubmed/20574985/?i=5&from=/23090741/related
Exon 4 c.688T>C VUS p.F230L Missense 5-week old female identified with abnormal NBS and having low total and free plasma carnitiene levels was heterozygous for p.F230L and p.P46S. https://www.ncbi.nlm.nih.gov/m/pubmed/20574985/?i=5&from=/23090741/related
Exon 4 c.692C>T VUS p.S231F Missense Caucasian female with abnormal NBS and low total and free carnitine in plasma was heterozygous for p.S231F. http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 4 c.695C>T p.T232M Missense Caucasian female infant identified with abnormal NBS, presenting with mild hypotonia, and low free and total plasma carnitine was heterozygous for p.T232M. http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 4 c.718G>A VUS p.A240T Missense 35 yr. old female, with intolerance to fasting and low total and free plasma carnitine levels, was heterozygous for p.A240T. https://www.ncbi.nlm.nih.gov/m/pubmed/20574985/?i=5&from=/23090741/related
Exon 4 c.725G>T Pathogenic p.G242V Missense <1 Patient of Spanish descent was homozygous for this mutation. <5 http://www.ncbi.nlm.nih.gov/pubmed/11058897
Exon 4 c.760C>T Pathogenic p.R254X Nonsense Described as a founder mutation in the Chinese where two patients (one from Taiwan, the other Macau) were homozygous for this mutation, and a third patient (Taiwan) was heterozygous for this mutation and p.Y387X. Lamhonwah et al. (2004, J. Inherit. Metab. <1 http://www.ncbi.nlm.nih.gov/pubmed/12204000
Exon 4 c.761G>A VUS p.R254Q Missense 2-month old Caucasian male with abnormal NBS was heterozygous for p.R254Q and c.1053-2A>C. Patient shows no symptoms of primary carnitine deficiency and no family history. Plasma carnitine was low, urine carnitine was normal, and urine resorption was re http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 4 c.768G>A Pathogenic p.W256X Nonsense Caucasian patient heterozygous for this mutation and p.T468R. 0 http://www.ncbi.nlm.nih.gov/pubmed/16652335
Exon 4 c.769C>T Pathogenic p.R257W Missense 0 Two caucasian sisters were heterozygous for this missense variant and had low free and total plasma carnitine. Sister and mother presented with mild disease. Patient transport activity in fibroblasts was 49% of normal fibroblasts, mother was 48%. Enzyme a <50 http://www.ncbi.nlm.nih.gov/pubmed/20574985
Exon 4 c.769C>T VUS p.R257W Missense 30 year-old asymptomatic female was heterozygous for p.R257W and p. T440M. P.R257W is predicted to be pathogenic by PolyPhen and SIFT (computer algorithms). https://www.ncbi.nlm.nih.gov/m/pubmed/20574985/?i=5&from=/23090741/related
Exon 4 c.791C>G VUS p.T264R Missense 6-month old male with abnormal NBS and very low total and free plasma carnitine levels was homozygous for p.T264R. This variant is predicted to be pathogenic by PolyPhen and SIFT (computer algorithms). https://www.ncbi.nlm.nih.gov/m/pubmed/20574985/?i=5&from=/23090741/related
Exon 4 c.806delT Pathogenic p.L269HfsX27 Deletion Patient of Mexican descent was homozygous for this mutation (parents were heterozygous). Brother died at age 3 months (not genotyped). RNA analysis revealed three species of cDNA: predicted 295 bp species containing the deletion and leading to p.L269HfsX2 2 http://www.ncbi.nlm.nih.gov/pubmed/12409266
Exon 4 c.807G>A Benign p.L269L Silent http://www.ncbi.nlm.nih.gov/pubmed/12204000
Exon 5 c.825G>A Pathogenic p.W275X Nonsense Vietnamese patient was heterozygous for this mutation and c.1267+3_23del in exon 7. 5 http://www.ncbi.nlm.nih.gov/pubmed/15714519
Exon 5 c.839C>T Pathogenic p.S280F Missense Male patient with abnormal NBS and low free and total plasma carnitine was heterozygous for p.A142S, R488H, S280F and homozygous for benign variants c.285T>C, c.652+6A>G, c.807A>G, c.824+13C>T. Mother also had low free and total plasma carnitine.  
Exon 5 c.839delC Pathogenic p.R282NfsX14 Deletion This mutation was detected in a patient from Croatia. Patient was homozygous for this mutation. Mutation is thought to destroy two transmembrane domains and most likely cause protein to be retained in the cytoplasm. 1 http://www.ncbi.nlm.nih.gov/pubmed/12210323
Exon 5 c.844C>T Pathogenic p.R282X Nonsense Burwinkel et al. 1999 (Biochemical and Biophysical REsearch Communications 261: 484-487) also describes this mutation in two patients of German descent (patient 1 was homozygous for this mutation and transport activity was 10% of normal; patient 2 was het <1 http://www.ncbi.nlm.nih.gov/pubmed/10051646
Exon 5 c.845G>A Pathogenic p.R282Q Missense 11 Hispanic patient was homozygous for this mutation. <10 http://www.ncbi.nlm.nih.gov/pubmed/16652335
Exon 5 c.847T>C Pathogenic p.W283R Missense <1 Caucasian patient was heterozygous for this mutation and p.V446F. http://www.ncbi.nlm.nih.gov/pubmed/10612840
Exon 5 c.847T>A Pathogenic p.W283R Missense <5 Saudi patient was homozygous for this mutation (parents are related). Patient has 3 unaffected siblings and a brother who died at age 2. <10 http://www.ncbi.nlm.nih.gov/pubmed/16652335
Exon 5 c.849G>T Pathogenic p.W283C Missense 2 Japanese individual was homozygous for this mutation. http://www.ncbi.nlm.nih.gov/pubmed/10545605
Exon 5 c.865C>T Pathogenic p.R289X Nonsense Hispanic female infant identified with abnormal NBS had low total and free plasma carnitine was heterozygous for p.G152D and p.R289X. <5  
Exon 5 c.865C>T Pathogenic p.R289X Nonsense Australian patient of Anglo-Celtic ancestry was heterozygous for this mutation and p.V153AfsX41. <5 http://www.ncbi.nlm.nih.gov/pubmed/15714519
Exon 5 c.902C>A Pathogenic p.A301D Missense 4 Patient of italian descent was homozygous for this mutation. Parents were related (first cousins) and siblings died at 10 months of age with SCD like clinical presentations. <5 http://www.ncbi.nlm.nih.gov/pubmed/11058897
Exon 5 c.904A>G VUS p.K302E Missense Burmese female identified with abnormal NBS was heterozygous for p.[L95V;D115G] and p.K302E predicted to be on opposite chromosomes. Patient had low plasma free and total carnitine and was homozygous for common benign variants (c.285T>C, c.652+6A>G, c.807 http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 5 c.934A>G VUS p.I312V Missense 4-month old male presenting with cardiomyopathy was heterozygous for p.I312V. https://www.ncbi.nlm.nih.gov/m/pubmed/20574985/?i=5&from=/23090741/related
Exon 6 c.955C>T pathogenic p.Q319X Nonsense 27-year old asymptomatic female presenting with low total and free plasma carnitine levels was heterozygous for this nonsense mutation. https://www.ncbi.nlm.nih.gov/m/pubmed/20574985/?i=5&from=/23090741/related
Exon 6 c.1009delA Pathogenic p.T337RfsX12 Deletion Three patients of Turkish descent were heterozygous for this deletion (documented as T337fsX328) and p.T440M. 16-20 http://www.ncbi.nlm.nih.gov/pubmed/12210323
Exon 6 c.1043T>C Pathogenic p.I348T Missense Caucasian/African-American female was heterozygous for p.I348T. This patient had high carnitine detected in urine and low plasma carnitine (free and total) and was identified with abnormal NBS. http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 6 c.1051T>C Pathogenic p.W351R Missense <1 Patient was compound heterozygote for this mutation and R169W. <5 http://www.ncbi.nlm.nih.gov/pubmed/11058897
Exon 7 c.1064C>T VUS p.S355L Missense 30-yr old asymptomatic female presenting with low total and free plasma carnitine levels was heterozygous for p.Y358N and p.F17L. P.Y358N is predicted to be pathogenic by PolyPhen and SIFT (computer algorithms). https://www.ncbi.nlm.nih.gov/m/pubmed/20574985/?i=5&from=/23090741/related
Exon 7 c.1072T>A VUS p.Y358N Missense Caucasian female child presenting with low free and total plasma carnitine was heterozygous for p.Y358N and p.Y449D. http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 7 c.1078_1083dupGGGCTT Pathogenic p.G360_L361dup Duplication Caucasian female adult identified through child having abnormal NBS presented with fatigue and low free and total plasma carnitine was heterozygous for p.P46S and c.1078_1083dupGGGCTT. Additional caucasian male was seen with abnormal NBS and heterozygous http://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.2010.01567.x/pdf
Exon 7 c.1088T>C VUS p.L363P Missense Patients displayed low carnitine levels in plasma and high carnitine levels in urine. http://www.ncbi.nlm.nih.gov/pubmed/12204000
Exon 7 c.1161T>G Pathogenic p.Y387X Nonsense Chinese patient (Taiwan) was heterozygous for this mutation and p.Y254X. http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 7 c.1181_1183delTGC Pathogenic p.L394del Deletion Detected in a sample at our lab with p.P46L (both heterozygous). 7 http://www.ncbi.nlm.nih.gov/pubmed/16652335
Exon 7 c.1193C>T Pathogenic p.P398L Missense <1 Caucasian patient was heterozygous for this mutation and p.S280F. Additional patient had this mutation with p.P46S. Caucasian female had one copy each of p.A142S, p.R488H and p.P398L. She presented with chronic fatigue and irregular heart beat on occasion <1 http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 7 c.1195C>T p.R399W Missense Asymptomatic male with abnormal NBS and low free and total plasma carnitine was heterozygous for p.R254Q and p.R399W. http://www.ncbi.nlm.nih.gov/pubmed/11715001
Exon 7 c.1195C>T VUS p.R399W Missense African American female infant identified with abnormal NBS and low total, free, and acyl-carnitine plasma carnitine was heterozygous for p.R399W. Mother was heterozygous for p. R399W and p.A442I and had low total, free, and acyl-carnitine in plasma. Br https://www.ncbi.nlm.nih.gov/m/pubmed/20574985/?i=5&from=/23090741/related
Exon 7 c.1196G>A Pathogenic p.R399Q Missense <5 Two Jewish siblings of Iranian descent were homozygous for this mutation. Parents were first cousins. <1 http://www.ncbi.nlm.nih.gov/pubmed/10051646
Exon 7 c.1202_1203insA Pathogenic p.Y401X Insertion Patient was caucasian and compound heterozygote for this mutation and p.G434AfsX24 (1 bp deletion in exon 8). Lamhonwah et al. reported a caucasian homozygous for p.Y401X who had <5% transport activity in cultured fibroblasts compared to normal control (2 <5 http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 7 c.1250het_dupT Pathogenic p.M417IfsX106 Insertion Caucasian female infant identified with abnormal NBS, low free and total plasma carnitine (free and acetyl carnitine markedly reduced), and normal urine carnitine levels was heterozygous for c.1250dupT and p.P455R. http://www.ncbi.nlm.nih.gov/pubmed/15714519
Exon 8 c.1302delG Pathogenic p.G434AfsX24 Deletion Detected in patient with p.Y401X (both heterozygous). Documented as G435fsX458. <5 http://www.ncbi.nlm.nih.gov/pubmed/12210323
Exon 8 c.1304_1313del10 pathogenic p.G435EfsX20 Deletion 30-year old female presenting with easy fatigability was heterozygous for this deletion and p.T232M. https://www.ncbi.nlm.nih.gov/m/pubmed/20574985/?i=5&from=/23090741/related
Exon 8 c.1319C>T Pathogenic p.T440M Missense <1 Patient of Croatia origin and homozygous for this mutation. Carnitine uptake in cultured lymphoblasts was 0.5% of normal control. This patient was also diagnosed with 3-methylglutaconic aciduria (Maradin el al 2000, Journal of Inherited Metabolic Disorder <1 http://www.ncbi.nlm.nih.gov/pubmed/10612840
Exon 8 c.1327T>G VUS p.F443V Missense 31-year old asymptomatic female was heterozygous for p.F443V. This variant is predicted to be pathogenic by PolyPhen and SIFT (computer algorithms). https://www.ncbi.nlm.nih.gov/m/pubmed/20574985/?i=5&from=/23090741/related
Exon 8 c.1336G>T Pathogenic p.V446F Missense <1 Caucasian patient was heterozygous for this mutation and p.W283R. http://www.ncbi.nlm.nih.gov/pubmed/12408185
Exon 8 c.1340A>G Pathogenic p.Y447C Missense 0 Patient described was from Saudi Arabia and homozygous for this mutation. Amat di San Filippo and Longo (2004, The Journal of Biological Chemistry 279(8):7247-7253) showed that this mutation prevents maturation of the protein into the plasma membrane and <15 http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 8 c.1342G>T VUS p.V448L Missense Detected in a patient sample with p.A214V and p.H79fsX50 (p.A214V & p.V448L thought to be in cis). <1 http://www.ncbi.nlm.nih.gov/pubmed/14665638
Exon 8 c.1345T>G Pathogenic p.Y449D Missense 11 Caucasian female child presenting with low free and total plasma carnitine was heterozygous for p.Y358N and p.Y449D. 50 http://www.ncbi.nlm.nih.gov/pubmed/14665638
Exon 8 c.1345T>G Pathogenic p.Y449D Missense 12 Patient of unknown ethnicity was heterozygous for this mutation. No other mutations in SLC22A5 were found, however, variations in other genes involved in the fatty acid oxidation pathway were previously descrived (Vockley et al. 2000, Mol. Genet. Metab. 7 50 http://www.ncbi.nlm.nih.gov/pubmed/10679939
Exon 8 c.1354G>A Pathogenic p.E452K Missense <5 Pakistani patient was homozygous for this mutation. <5 http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Exon 8 c.1364C>G VUS p.P455R Missense 6-month old male identified with abnormal NBS was heterozygous for p.P455R. This variant is predicted to be pathogenic by PolyPhen and SIFT (computer algorithms). https://www.ncbi.nlm.nih.gov/m/pubmed/20574985/?i=5&from=/23090741/related
Exon 8 c.1392_1409delinsCA Pathogenic p.V465TfsX29 Indel Patient was homozygous for this mutation. <1 http://www.ncbi.nlm.nih.gov/pubmed/10545605
Exon 8 c.1400C>G Pathogenic p.S467C Missense 11 (HEK293) First reported in an individual of Japanese descent (carrier). Schimmenti et al. (2007, Molec. Gen. and Met. 90 (4):441-115) detected this mutation with p.R254X in a mother identified via newborn screening. Female patient had one copy each of this mutatio <8 http://www.ncbi.nlm.nih.gov/pubmed/12210323
Exon 8 c.1403C>G Pathogenic p.T468R Missense <1 Patient of unknown ethnicity was heterozygous for this mutation and p.I89GfsX45 (due to an 11 bp duplication in exon 1). Amat di San Filippo et al. (2006, Hum. Mut. 27(6):513-523) described a caucasian patient heterozygous for this mutation and p.W256X wi <6 http://www.ncbi.nlm.nih.gov/pubmed/12210323
Exon 8 c.1409C>T Likely Pathogenic p.S470F Missense Asian patient was homozygous for this mutation. 7.1 http://www.ncbi.nlm.nih.gov/pubmed/14605509
Exon 8 c.1412G>A Pathogenic p.R471H Missense <2 A father and two sons (ages 11 months and 5 yrs.) of Turkish origin were homozygous for this mutation (mother was heterozygous). Carnitine transport activity in fibroblast was deficient in all three cases, however, only the youngest child was symptomatic. <10 http://www.ncbi.nlm.nih.gov/pubmed/10072434
Exon 8 c.1433C>T Pathogenic p.P478L Missense <1 Chinese patient was heterozygous for this mutation and p.T132X. Elder sister died in first year of life. 5 http://www.ncbi.nlm.nih.gov/pubmed/16931768
Exon 9 c.1441G>T Slight reduction in transport activity p.V481F Missense >60 Expression studies found that transport activity was not significantly impared by this mutation alone. Patient was heterozygous for this variant. http://www.ncbi.nlm.nih.gov/pubmed/9916797
Exon 9 c.1462C>T Pathogenic p.R488C Missense Hispanic male identified with abnormal NBS was found to be heterozygous for p.R488C and p.R227H (patient exhibited low plasma total and free carnitine, and high urine carnitine). <4 http://www.ncbi.nlm.nih.gov/pubmed/16652335
Exon 9 c.1463G>A p.R488H Missense Caucasian adult male presenting with fatigue and weakness was heterozygous for p.[A142S, R488H]. http://www.ncbi.nlm.nih.gov/pubmed/17126586  
Exon 9 c.1520T>C VUS p.L507S Missense 25-year old male with low total and free plasma carnitine was heterozygous for p.P46S and p.L507S. https://www.ncbi.nlm.nih.gov/m/pubmed/20574985/?i=5&from=/23090741/related
Exon 9 c.1556dupACAC Pathogenic p.I521HX3 Deletion Identified in a mother via newborn screening. Patient was heterozygous for mutation and p.P46S. <5 http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Intron 1 c.393+17G>A Benign Detected in a carrier sample with p.P46S. c.393+17G>A was also found in an African-American/Caucasian patient with low total/free plasma carnitine and heterozygous for p.L186P, p.P398L and p.P549S. Other benign variants detected were p.L95L (c.285C>T), c. 50 http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Intron 3 c.652+1G>A Pathogenic Splice Site Patient of East India/Irish descent was heterozygous for this mutation and p.F23del. Hwu et al. (2007, JIMD 30 (5): 816) reported a chinese patient (Taiwan) heterozygous for this mutation and p.R254X; this patient was diagnosed with both primary carnitine 2 http://www.ncbi.nlm.nih.gov/pubmed/12210323
Intron 3 c.652+6A>G Polymorphism Patient was homozygous for this variant and the polymorphisms p.L95L (c.285C>T), c.652+77A>G, p.L269L (c.807G>A), c.824+13T>C and heterozygous for c.393+17G>A. http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Intron 3 c.652+77A>G Polymorphism Common polymorphism (1 or 2 copies). http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Intron 3 c.653-2A>C Pathogenic Splice Site This mutation was detected with p.R399W in patient of unknown ethnicity. 8 http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Intron 4 c.824+13C>T Polymorphism Common polymorphism (1 or 2 copies). http://www.ncbi.nlm.nih.gov/pubmed/12204000
Intron 6 c.1053-2A>C Pathogenic Splice Site 2-month old Caucasian male with abnormal NBS was heterozygous for p.R254Q and c.1053-2A>C. Patient shows no symptoms of primary carnitine deficiency and no family history. Plasma carnitine was low, urine carnitine was normal, and urine resorption was re http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Intron 7 c.1267del+3_+23 Pathogenic Deletion Vietnamese patient was heterozygous for this mutation and p.W275X. This deletion is thought to impact splicing after exon 7, however, RNA studies have not been performed. 5 http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Intron 7 c.1267+3_+24del22 pathogenic Deletion 1-year old male identified with abnormal NBS was heterozygous for this deletion and p.F17L. https://www.ncbi.nlm.nih.gov/m/pubmed/20574985/?i=5&from=/23090741/related
Intron 7 c.1268-34A>G Benign c.1268-34A>G was detected in an African-American/Caucasian patient with low total/free plasma carnitine and was heterozygous for p.L186P, p.P398Lp.P549S. Other benign variants detected were p.L95L (c.285C>T), c.393+17G>A, and c.1587-38A>C. A second patien http://www.ncbi.nlm.nih.gov/pubmed/10051646
Intron 8 c.1451-1G>A Pathogenic Splice Site Patient was homozygous for this mutation. This variation is thought to disrupt splicing at the end of exon 8, although, RNA studies were not performed. <10 http://www.ncbi.nlm.nih.gov/pubmed/17126586
Intron 9 c.1586+1G>T Pathogenic Splice Site Caucasion female patient with <5 micromoles/L of total and free plasma carnitine. Inherited this mutation from mom and p.A142S/p.R488H from dad. Patient was treated for cardiac arrest and possible cardiomyopathy. Heart function improved with carnitine sup http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html
Intron 9 c.1587-38A>C Benign This likely benign variant was identified in an African-American/Caucasian patient with abnormal NBS and heterozygous for p.L186P, p.P398L, p.P549S and had low total/free plasma carnitine. Other benign variants identified were p.L95L (c.285C>T), c.393+17G http://www.arup.utah.edu/dev/database/OCTN2/unpublished.html