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).
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  • "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).


184 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C 33 Uncertain Calderon et.al unpublished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A 33 Uncertain Calderon et.al unpublished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C Benign Calderon et.al unpublished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A p.G12S VUS Calderon et.al unpublished
131733597 Exon 1 Missense c.34G>A p.G12S VUS Calderon et.al unpublished
131733597 Exon 1 Missense c.34G>A p.G12S VUS Li (2010)
131733606 Exon 1 Missense c.43G>T p.G15W 3 Likely Pathogenic Calderon et.al unpublished
131733606 Exon 1 Missense c.43G>T p.G15W VUS El-Hattab (2010)
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G p.F17L 14 18 Pathogenic Calderon et.al unpublished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A p.L20H VUS Calderon et.al unpublished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T p.A44V VUS Calderon et.al unpublished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G p.P46S 6 Pathogenic Calderon et.al unpublished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)
131733759 Exon 1 Missense c.196A>C p.T66P VUS Li (2010)
131733770 Exon 1 Silent c.207G>C p.L69L Benign Gazouli (2005)
131733787 Exon 1 Missense c.224G>C p.R75P VUS Li (2010)
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
131733850 Exon 1 Missense c.287G>C p.G96A VUS Li (2010)
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
131733913 Exon 1 Nonsense c.350G>A p.W117X Pathogenic Li (2010)
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
131733927 Exon 1 Missense c.364G>T p.D122Y VUS Li (2010)
131733931 Exon 2 Missense c.368T>G p.V123G VUS Li (2010)
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
131742003 Exon 2 Missense c.428C>T p.P143L VUS Li (2010)
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)
131747773 Exon 3 Missense c.529A>G p.M177V VUS Li (2010)
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
131747801 Exon 3 Missense c.557T>C p.L186P VUS Li (2010)
131747817 Exon 3 Frame-shift nonsense c.573delG p.N192IfsX12 pathogenic Li (2010)
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)
131748950 Exon 4 missense c.680G>A p.R227H VUS Li (2010)
131748950 Exon 4 missense c.680G>A p.R227H VUS Li (2010)
131748958 Exon 4 Missense c.688T>C p.F230L VUS 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
131748988 Exon 4 Missense c.718G>A p.A240T VUS Li (2010)
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)
131749039 Exon 4 Missense c.769C>T p.R257W VUS Li (2010)
131749061 Exon 4 Missense c.791C>G p.T264R VUS Li (2010)
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)
131750724 Exon 5 Missense c.934A>G p.I312V VUS Li (2010)
131752514 Exon 6 Nonsense c.955C>T p.Q319X pathogenic 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
131754291 Exon 7 Missense c.1064C>T p.S355L VUS Li (2010)
131754299 Exon 7 Missense c.1072T>A p.Y358N VUS Li (2010)
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)
131754422 Exon 7 Missense c.1195C>T p.R399W VUS El-Hattab (2010)
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
131754497 Intron 7 Deletion c.1267+3_+24del22 pathogenic Li (2010)
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)
131756059 Exon 8 Deletion c.1304_1313del10 p.G435EfsX20 pathogenic Li (2010)
131756075 Exon 8 Missense c.1319C>T p.T440M <1 <1 Pathogenic Lamhonwah (2002)
131756082 Exon 8 Missense c.1327T>G p.F443V VUS Li (2010)
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
131756119 Exon 8 Missense c.1364C>G p.P455R VUS Li (2010)
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
131757336 Exon 9 Missense c.1520T>C p.L507S VUS Li (2010)
131757336 Exon 9 Missense c.1520T>C p.L507S VUS Li (2010)
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
131757834 Exon 10 Missense c.1645C>T p.P549S VUS Li (2010)
131757969 Intron 9 c.1587-38A>C Benign Calderon et.al unpublished
131758141 3'UTR c.1674+47C>T VUS Calderon et.al unpublished