No paralogue variants have been mapped to residue 1221 for SCN5A.
SCN5A | WWRLRKTCYHIVEHSWFETFIIFMILLSSG>A<LAFEDIYLEERKTIKVLLEYADKMFTYVFV | 1251 |
SCN1A | WWNLRRTCFRIVEHNWFETFIVFMILLSSG>A<LAFEDIYIDQRKTIKTMLEYADKVFTYIFI | 1264 |
SCN2A | WWNLRKTCYKIVEHNWFETFIVFMILLSSG>A<LAFEDIYIEQRKTIKTMLEYADKVFTYIFI | 1254 |
SCN3A | WWNLRKTCYSIVEHNWFETFIVFMILLSSG>A<LAFEDIYIEQRKTIKTMLEYADKVFTYIFI | 1252 |
SCN4A | WWTLRRACFKIVEHNWFETFIVFMILLSSG>A<LAFEDIYIEQRRVIRTILEYADKVFTYIFI | 1077 |
SCN7A | WQNIRKTCCKIVENNWFKCFIGLVTLLSTG>T<LAFEDIYMDQRKTIKILLEYADMIFTYIFI | 980 |
SCN8A | WWILRKTCFLIVEHNWFETFIIFMILLSSG>A<LAFEDIYIEQRKTIRTILEYADKVFTYIFI | 1244 |
SCN9A | WWNIRKTCYKIVEHSWFESFIVLMILLSSG>A<LAFEDIYIERKKTIKIILEYADKIFTYIFI | 1227 |
SCN10A | GWQVRKTCYRIVEHSWFESFIIFMILLSSG>S<LAFEDYYLDQKPTVKALLEYTDRVFTFIFV | 1198 |
SCN11A | WWNLRKTCYQIVKHSWFESFIIFVILLSSG>A<LIFEDVHLENQPKIQELLNCTDIIFTHIFI | 1102 |
CACNA1A | TNPLRRLCHYILNLRYFEMCILMVIAMSSI>A<LAAEDPV-QPNAPRNNVLRYFDYVFTGVFT | 1289 |
CACNA1B | TNLLRRFCHYIVTMRYFEVVILVVIALSSI>A<LAAEDPV-RTDSPRNNALKYLDYIFTGVFT | 1196 |
CACNA1C | NNRFRLQCHRIVNDTIFTNLILFFILLSSI>S<LAAEDPV-QHTSFRNHILFYFDIVFTTIFT | 945 |
CACNA1D | TNPIRVGCHKLINHHIFTNLILVFIMLSSA>A<LAAEDPI-RSHSFRNTILGYFDYAFTAIFT | 951 |
CACNA1E | TNPIRRACHYIVNLRYFEMCILLVIAASSI>A<LAAEDPV-LTNSERNKVLRYFDYVFTGVFT | 1198 |
CACNA1F | TNPLRKGCHTLIHHHVFTNLILVFIILSSV>S<LAAEDPI-RAHSFRNHILGYFDYAFTSIFT | 916 |
CACNA1G | QSRFRLLCHRIITHKMFDHVVLVIIFLNCI>T<IAMERPKIDPHSAERIFLTLSNYIFTAVFL | 1322 |
CACNA1H | QNRFRVSCQKVITHKMFDHVVLVFIFLNCV>T<IALERPDIDPGSTERVFLSVSNYIFTAIFV | 1340 |
CACNA1I | ENRFRVLCQTIIAHKLFDYVVLAFIFLNCI>T<IALERPQIEAGSTERIFLTVSNYIFTAIFV | 1216 |
CACNA1S | TNKIRVLCHRIVNATWFTNFILLFILLSSA>A<LAAEDPI-RADSMRNQILKHFDIGFTSVFT | 844 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1221V | c.3662C>T | Inherited Arrhythmia | LQTS | SIFT: deleterious Polyphen: possibly damaging | |
Reports | Inherited Arrhythmia | LQTS | 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 |