Paralogue Annotation for SCN5A residue 1231

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1231
Reference Amino Acid: E - Glutamate
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1231

No paralogue variants have been mapped to residue 1231 for SCN5A.



SCN5AIVEHSWFETFIIFMILLSSGALAFEDIYLE>E<RKTIKVLLEYADKMFTYVFVLEMLLKWVAY1261
SCN1AIVEHNWFETFIVFMILLSSGALAFEDIYID>Q<RKTIKTMLEYADKVFTYIFILEMLLKWVAY1274
SCN2AIVEHNWFETFIVFMILLSSGALAFEDIYIE>Q<RKTIKTMLEYADKVFTYIFILEMLLKWVAY1264
SCN3AIVEHNWFETFIVFMILLSSGALAFEDIYIE>Q<RKTIKTMLEYADKVFTYIFILEMLLKWVAY1262
SCN4AIVEHNWFETFIVFMILLSSGALAFEDIYIE>Q<RRVIRTILEYADKVFTYIFIMEMLLKWVAY1087
SCN7AIVENNWFKCFIGLVTLLSTGTLAFEDIYMD>Q<RKTIKILLEYADMIFTYIFILEMLLKWMAY990
SCN8AIVEHNWFETFIIFMILLSSGALAFEDIYIE>Q<RKTIRTILEYADKVFTYIFILEMLLKWTAY1254
SCN9AIVEHSWFESFIVLMILLSSGALAFEDIYIE>R<KKTIKIILEYADKIFTYIFILEMLLKWIAY1237
SCN10AIVEHSWFESFIIFMILLSSGSLAFEDYYLD>Q<KPTVKALLEYTDRVFTFIFVFEMLLKWVAY1208
SCN11AIVKHSWFESFIIFVILLSSGALIFEDVHLE>N<QPKIQELLNCTDIIFTHIFILEMVLKWVAF1112
CACNA1AILNLRYFEMCILMVIAMSSIALAAEDPV-Q>P<NAPRNNVLRYFDYVFTGVFTFEMVIKMIDL1299
CACNA1BIVTMRYFEVVILVVIALSSIALAAEDPV-R>T<DSPRNNALKYLDYIFTGVFTFEMVIKMIDL1206
CACNA1CIVNDTIFTNLILFFILLSSISLAAEDPV-Q>H<TSFRNHILFYFDIVFTTIFTIEIALKMTAY955
CACNA1DLINHHIFTNLILVFIMLSSAALAAEDPI-R>S<HSFRNTILGYFDYAFTAIFTVEILLKMTTF961
CACNA1EIVNLRYFEMCILLVIAASSIALAAEDPV-L>T<NSERNKVLRYFDYVFTGVFTFEMVIKMIDQ1208
CACNA1FLIHHHVFTNLILVFIILSSVSLAAEDPI-R>A<HSFRNHILGYFDYAFTSIFTVEILLKMTVF926
CACNA1GIITHKMFDHVVLVIIFLNCITIAMERPKID>P<HSAERIFLTLSNYIFTAVFLAEMTVKVVAL1332
CACNA1HVITHKMFDHVVLVFIFLNCVTIALERPDID>P<GSTERVFLSVSNYIFTAIFVAEMMVKVVAL1350
CACNA1IIIAHKLFDYVVLAFIFLNCITIALERPQIE>A<GSTERIFLTVSNYIFTAIFVGEMTLKVVSL1226
CACNA1SIVNATWFTNFILLFILLSSAALAAEDPI-R>A<DSMRNQILKHFDIGFTSVFTVEIVLKMTTY854
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1231Kc.3691G>A Inherited ArrhythmiaLQTSrs199473598SIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476