Paralogue Annotation for SCN5A residue 1221

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1221
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1221

No paralogue variants have been mapped to residue 1221 for SCN5A.



SCN5AWWRLRKTCYHIVEHSWFETFIIFMILLSSG>A<LAFEDIYLEERKTIKVLLEYADKMFTYVFV1251
SCN1AWWNLRRTCFRIVEHNWFETFIVFMILLSSG>A<LAFEDIYIDQRKTIKTMLEYADKVFTYIFI1264
SCN2AWWNLRKTCYKIVEHNWFETFIVFMILLSSG>A<LAFEDIYIEQRKTIKTMLEYADKVFTYIFI1254
SCN3AWWNLRKTCYSIVEHNWFETFIVFMILLSSG>A<LAFEDIYIEQRKTIKTMLEYADKVFTYIFI1252
SCN4AWWTLRRACFKIVEHNWFETFIVFMILLSSG>A<LAFEDIYIEQRRVIRTILEYADKVFTYIFI1077
SCN7AWQNIRKTCCKIVENNWFKCFIGLVTLLSTG>T<LAFEDIYMDQRKTIKILLEYADMIFTYIFI980
SCN8AWWILRKTCFLIVEHNWFETFIIFMILLSSG>A<LAFEDIYIEQRKTIRTILEYADKVFTYIFI1244
SCN9AWWNIRKTCYKIVEHSWFESFIVLMILLSSG>A<LAFEDIYIERKKTIKIILEYADKIFTYIFI1227
SCN10AGWQVRKTCYRIVEHSWFESFIIFMILLSSG>S<LAFEDYYLDQKPTVKALLEYTDRVFTFIFV1198
SCN11AWWNLRKTCYQIVKHSWFESFIIFVILLSSG>A<LIFEDVHLENQPKIQELLNCTDIIFTHIFI1102
CACNA1ATNPLRRLCHYILNLRYFEMCILMVIAMSSI>A<LAAEDPV-QPNAPRNNVLRYFDYVFTGVFT1289
CACNA1BTNLLRRFCHYIVTMRYFEVVILVVIALSSI>A<LAAEDPV-RTDSPRNNALKYLDYIFTGVFT1196
CACNA1CNNRFRLQCHRIVNDTIFTNLILFFILLSSI>S<LAAEDPV-QHTSFRNHILFYFDIVFTTIFT945
CACNA1DTNPIRVGCHKLINHHIFTNLILVFIMLSSA>A<LAAEDPI-RSHSFRNTILGYFDYAFTAIFT951
CACNA1ETNPIRRACHYIVNLRYFEMCILLVIAASSI>A<LAAEDPV-LTNSERNKVLRYFDYVFTGVFT1198
CACNA1FTNPLRKGCHTLIHHHVFTNLILVFIILSSV>S<LAAEDPI-RAHSFRNHILGYFDYAFTSIFT916
CACNA1GQSRFRLLCHRIITHKMFDHVVLVIIFLNCI>T<IAMERPKIDPHSAERIFLTLSNYIFTAVFL1322
CACNA1HQNRFRVSCQKVITHKMFDHVVLVFIFLNCV>T<IALERPDIDPGSTERVFLSVSNYIFTAIFV1340
CACNA1IENRFRVLCQTIIAHKLFDYVVLAFIFLNCI>T<IALERPQIEAGSTERIFLTVSNYIFTAIFV1216
CACNA1STNKIRVLCHRIVNATWFTNFILLFILLSSA>A<LAAEDPI-RADSMRNQILKHFDIGFTSVFT844
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A1221Vc.3662C>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS Congenital long QT 3 in the pediatric population. Am J Cardiol. 2012 109(10):1459-65. doi: 10.1016/j.amjcard.2012.01.36 22360817