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).

122 variants found

Genomic Position Location Mutation Type Nucleotide Change Protein Change Transport Activity Expression References Comments
131733358 5'UTR c.-207G>C Peltekova (2004)
131733379 5'UTR c.-185A>C 33 Calderon et.al unpublished
131733415 5'UTR c.-149G>A 33 Calderon et.al unpublished
131733473 5'UTR Deletion c.-91_22del Nezu (1999)
131733486 5'UTR c.-78C>T 33 Koizumi (1999)
131733487 5'UTR c.-77G>A 33 Koizumi (1999)
131733526 5'UTR c.-38A>C Calderon et.al unpublished
131733566 Exon 1 Missense c.3G>T p.M1I <5 Dobrowolski (2005)
131733567 Exon 1 Insertion c.4_5insC p.R2PfsX136 Nezu (1999)
131733575 Exon 1 Nonsense c.12C>G p.Y4X <1 Wang (2001)
131733596 Exon 1-8 Deletion c.33_1427del p.G12_L477del 2 Lamhonwah (1998)
131733597 Exon 1 Missense c.34G>A p.G12S Calderon et.al unpublished
131733606 Exon 1 Missense c.43G>T p.G15W 3 Calderon et.al unpublished
131733614 Exon 1 Missense c.51C>G p.F17L 14 18 Calderon et.al unpublished  
131733619 Exon 1 Missense c.56G>C p.R19P <5 4 Wang (2001)
131733622 Exon 1 Missense c.59T>A p.L20H Calderon et.al unpublished
131733627 Exon 1 Deletion c.67_69delTTC p.F23del 2 Lamhonwah (2002)
131733646 Exon 1 Missense c.83G>T p.S28I <12 Rahbeeni (2002)
131733658 Exon 1 Missense c.95A>G p.N32S 21 0.4 Lamhonwah (2002)
131733694 Exon 1 Missense c.131C>T p.A44V Calderon et.al unpublished
131733699 Exon 1 Missense c.136C>G p.P46S <5 <5 Schimmenti (2007)
131733700 Exon 1 Missense c.137C>T p.P46L 7 Calderon et.al unpublished
131733711 Exon 1 Deletion c.148delT p.C50PfsX9 Carducci (unpublished)
131733770 Exon 1 Silent c.207G>C p.L69L Gazouli (2005)
131733795 Exon 1 Deletion c.232delC p.H79TfsX51 <1 Amat di San Filippo (2006)
131733809 Exon 2 Silent c.246C>T p.R82R Calderon et.al unpublished
131733811 Exon 1 Missense c.248G>T p.R83L 0 <1 Makhseed (2004)
131733817 Exon 1 Insertion c.254_264dup
GGCTCGCCACC		 p.I89GfsX45 <5 Wang (2001)
131733818 Exon 1 Missense c.34G>A p.G12S Calderon et.al unpublished
131733848 Exon 1 Silent c.285C>T p.L95L Tang (2002)  
131733850 Exon 1 Missense c.287G>C p.G96A Calderon et.al unpublished
131733854 Exon 1 Silent c.291C>T p.L97L Tang (1999)
131733973 Intron 1 c.393+17G>A 50 Calderon et.al unpublished
131734050 Exon 1 Frameshift c.265_266ins
GGCTCGCCACC		 p.I89fs Calderon et.al unpublished
131734062 Exon 1 Missense c.278C>G p.S93W Calderon et.al unpublished
131734067 Exon 1 Missense c.283C>G p. L95V <2 Calderon et.al unpublished
131734128 Exon 1 Missense c.344A>G p.D115G <2 Calderon et.al unpublished
131734148 Exon 1 Missense c.364G>T p.D122Y Calderon et.al unpublished
131741971 Exon 2 Nonsense c.396G>A p.W132X <5 Tang (1999)
131741990 Exon 2 Missense c.415G>A p.D139N Calderon et.al unpublished
131741999 Exon 2 Missense c.424G>T p.A142S 5 45 Amat di San Filippo (2006)
131742009 Exon 2 Missense c.430C>T p.L144F 50 Calderon et.al unpublished
131742026 Exon 2 c.451G>A p.V151M 6 Calderon et.al unpublished
131742028 Exon 2 Silent c.453G>A p.V151V 6 Calderon et.al unpublished
131742030 Exon 2 Missense c.455G>A p.G152D Calderon et.al unpublished
131742033 Exon 2 Deletion c.458_459delTG p.V153AfsX41 <5 Dobrowolski (2005)
131742220 Exon 2 Silent c.414C>T p.D138D 45 Calderon et.al unpublished
131747745 Exon 3 Missense c.505C>T p.R169W <5 <1 Wang (2000)
131747746 Exon 3 Missense c.506G>A p.R169Q <5 Burwinkel (1999)
131747775 Exon 3 Missense c.535A>T p.M179L 92 Koizumi (1999)
131747797 Exon 3 Missense c.557T>C p.L186P Calderon et.al unpublished
131747869 Exon 3 Missense c.629A>G p.N210S Calderon et.al unpublished
131747872 Exon 3 Missense c.632A>G p.Y211C <10 Vaz (1999)
131747881 Exon 3 Missense c.641C>T p.A214V <10 Calderon et.al unpublished
131747892 Exon 3 Insertion c.652_653ins
TATGGCCATCAGGTTGGAG		 p.G218VfsX68 2 Lamhonwah & Tein (1998)
131747893 Intron 3 Splice Site c.652+1G>A 2 Lamhonwah (2002)
131747897 Intron 3 c.652+6A>G Calderon et.al unpublished
131747969 Intron 3 c.652+77A>G Calderon et.al unpublished
131748917 Intron 3 Splice Site c.653-2A>C 8 Calderon et.al unpublished
131748919 Exon 4 Deletion c.653_824del p.T219SfsX20 2 Lamhonwah & Tein (1998)
131748950 Exon 4 Missense c.680G>A p.R227H Li (2010)
131748961 Exon 4 Missense c.695C>T p.T232M 5 2 Calderon et.al unpublished
131748991 Exon 4 Missense c.725G>T p.G242V <5 <1 Wang (2000)
131749026 Exon 4 Nonsense c.760C>T p.R254X <1 Tang (2002)
131749027 Exon 4 Missense c.761G>A p.R254Q Calderon et.al unpublished
131749034 Exon 4 Nonsense c.768G>A p.W256X 0 Amat di San Filippo (2006)
131749035 Exon 4 Missense c.769C>T p.R257W <50 Li (2011)
131749072 Exon 4 Deletion c.806delT p.L269HfsX27 2 Cederbaum (2002)
131749073 Exon 4 Silent c.807G>A p.L269L Tang (2002)  
131749104 Intron 4 c.824+13C>T Tang (2002)
131749175 Exon 4 Missense c.674C>T p.S225L Calderon et.al unpublished
131749193 Exon 4 Missense c.692C>T p.S231F Calderon et.al unpublished
131750616 Exon 5 Nonsense c.825G>A p.W275X 5 Dobrowolski (2005)
131750630 Exon 5 Missense c.839C>T p.S280F <1 <1 Amat di San Filippo (2006)
131750630 Exon 5 Deletion c.839delC p.R282NfsX14 1 Lamhonwah (2002)
131750635 Exon 5 Nonsense c.844C>T p.R282X <1 Wang (1999)
131750636 Exon 5 Missense c.845G>A p.R282Q <10 11 Amat di San Filippo (2006)
131750638 Exon 5 Missense c.847T>C p.W283R <1 Mayatepek (2000)
131750638 Exon 5 Missense c.847T>A p.W283R <10 <5 Amat di San Filippo (2006)
131750640 Exon 5 Missense c.849G>T p.W283C 2 Koizumi (1999)
131750656 Exon 5 Nonsense c.865C>T p.R289X <5 Dobrowolski (2005)
131750693 Exon 5 Missense c.902C>A p.A301D <5 4 Wang (2000)
131750694 Exon 5 Missense c.904A>G p.K302E Calderon et.al unpublished
131752568 Exon 6 Deletion c.1009delA p.T337RfsX12 16-20 Lamhonwah (2002)
131752611 Exon 6 Missense c.1051T>C p.W351R <5 <1 Wang (2000)
131752833 Exon 6 Missense c.1043T>C p.I348T Calderon et.al unpublished
131754299 Exon 7 Missense c.1072T>A p.Y358N Calderon et.al unpublished
131754305 Exon 7 Duplication c.1078_1083dupGGGCTT p.G360_L361dup Calderon et.al unpublished
131754389 Exon 7 Nonsense c.1161T>G p.Y387X Tang (2002)
131754409 Exon 7 Deletion c.1181_1183delTGC p.L394del 7 Calderon et.al unpublished
131754421 Exon 7 Missense c.1193C>T p.P398L <1 <1 Amat di San Filippo (2006)
131754423 Exon 7 Missense c.1195C>T p.R399W 36 7 Calderon et.al unpublished
131754424 Exon 7 Missense c.1196G>A p.R399Q <1 <5 Wang (2001)
131754430 Exon 7 Insertion c.1202_1203insA p.Y401X <5 Wang (1999)
131754477 Exon 7 Insertion c.1250het_dupT p.M417IfsX106 Calderon et.al unpublished
131754498 Intron 7 Deletion c.1267del+3_+23 5 Dobrowolski (2005)
131754546 Exon 7 Missense c.1088T>C p.L363P Akpinar (2010)
131755990 Intron 7 c.1268-34A>G Calderon et.al unpublished
131756058 Exon 8 Deletion c.1302delG p.G434AfsX24 <5 Wang (1999)
131756075 Exon 8 Missense c.1319C>T p.T440M 2.8 <1 Lamhonwah (2002)
131756092 Exon 8 Missense c.1336G>T p.V446F <1 Mayatepek (2000)
131756096 Exon 8 Missense c.1340A>G p.Y447C <15 0 Rahbeeni (2002)
131756098 Exon 8 Missense c.1342G>T p.V448L <1 Calderon et.al unpublished
131756101 Exon 8 Missense c.1345T>G p.Y449D 50 12 Amat di San Filippo (2004)
131756110 Exon 8 Missense c.1354G>A p.E452K <5 <5 Wang (2000)
131756119 Exon 8 Missense c.1364C>G p.P455R Calderon et.al unpublished
131756148 Exon 8 Indel c.1392_1409
delinsCA		 p.V465TfsX29 <1 Calderon et.al unpublished
131756156 Exon 8 Missense c.1400C>G p.S467C <8 11 (HEK293) Koizumi (1999)
131756159 Exon 8 Missense c.1403C>G p.T468R <6 <1 Lamhonwah (2002)
131756165 Exon 8 Missense c.1409C>T p.S470F 7.1 Lamhonwah (2002)
131756168 Exon 8 Missense c.1412G>A p.R471H <10 <2 Spiekerkoetter (2003)
131756189 Exon 8 Missense c.1433C>T p.P478L 5 <1 Tang (1999)
131757257 Exon 9 Missense c.1441G>T p.V481F >60 Urban (2006)
131757267 Intron 8 Splice Site c.1451-1G>A <10 Nezu (1999)
131757278 Exon 9 Missense c.1462C>T p.R488C <4 Schimmenti (2007)
131757279 Exon 9 Missense c.1463G>A p.R488H 5 47 Amat di San Filippo (2006)
131757372 Exon 9 Deletion c.1556dupACAC p.I521HX3 <5 Schimmenti (2007)
131757737 Intron 9 Splice Site c.1586+1G>T Calderon et.al unpublished
131757785 Exon 10 Frameshift c.1596_1597delCA p.H532QfsX21 Calderon et.al unpublished
131757969 Intron 9 c.1587-38A>C Calderon et.al unpublished
131758065 Exon 10 Missense c.1645C>T p.P549S Dobrowolski (2005)
131758141 3'UTR c.1674+47C>T Calderon et.al unpublished