No paralogue variants have been mapped to residue 1215 for SCN5A.
SCN5A | ---GKVWWRLRKTCYHIVEHSWFETFIIFM>I<LLSSGALAFEDIYLEERKTIKVLLEYADKM | 1245 |
SCN1A | ---GKQWWNLRRTCFRIVEHNWFETFIVFM>I<LLSSGALAFEDIYIDQRKTIKTMLEYADKV | 1258 |
SCN2A | ---GKLWWNLRKTCYKIVEHNWFETFIVFM>I<LLSSGALAFEDIYIEQRKTIKTMLEYADKV | 1248 |
SCN3A | ---GKIWWNLRKTCYSIVEHNWFETFIVFM>I<LLSSGALAFEDIYIEQRKTIKTMLEYADKV | 1246 |
SCN4A | ---GKKWWTLRRACFKIVEHNWFETFIVFM>I<LLSSGALAFEDIYIEQRRVIRTILEYADKV | 1071 |
SCN7A | ---GKIWQNIRKTCCKIVENNWFKCFIGLV>T<LLSTGTLAFEDIYMDQRKTIKILLEYADMI | 974 |
SCN8A | ---GKSWWILRKTCFLIVEHNWFETFIIFM>I<LLSSGALAFEDIYIEQRKTIRTILEYADKV | 1238 |
SCN9A | ---GKIWWNIRKTCYKIVEHSWFESFIVLM>I<LLSSGALAFEDIYIERKKTIKIILEYADKI | 1221 |
SCN10A | ---WDVGWQVRKTCYRIVEHSWFESFIIFM>I<LLSSGSLAFEDYYLDQKPTVKALLEYTDRV | 1192 |
SCN11A | ---WVIWWNLRKTCYQIVKHSWFESFIIFV>I<LLSSGALIFEDVHLENQPKIQELLNCTDII | 1096 |
CACNA1A | MFILSTTNPLRRLCHYILNLRYFEMCILMV>I<AMSSIALAAEDPV-QPNAPRNNVLRYFDYV | 1283 |
CACNA1B | MFCLSPTNLLRRFCHYIVTMRYFEVVILVV>I<ALSSIALAAEDPV-RTDSPRNNALKYLDYI | 1190 |
CACNA1C | FFIFSSNNRFRLQCHRIVNDTIFTNLILFF>I<LLSSISLAAEDPV-QHTSFRNHILFYFDIV | 939 |
CACNA1D | FFILSKTNPIRVGCHKLINHHIFTNLILVF>I<MLSSAALAAEDPI-RSHSFRNTILGYFDYA | 945 |
CACNA1E | MFIFSTTNPIRRACHYIVNLRYFEMCILLV>I<AASSIALAAEDPV-LTNSERNKVLRYFDYV | 1192 |
CACNA1F | FFCLSQTNPLRKGCHTLIHHHVFTNLILVF>I<ILSSVSLAAEDPI-RAHSFRNHILGYFDYA | 910 |
CACNA1G | Y-IFPPQSRFRLLCHRIITHKMFDHVVLVI>I<FLNCITIAMERPKIDPHSAERIFLTLSNYI | 1316 |
CACNA1H | Y-LFSPQNRFRVSCQKVITHKMFDHVVLVF>I<FLNCVTIALERPDIDPGSTERVFLSVSNYI | 1334 |
CACNA1I | Y-LFSPENRFRVLCQTIIAHKLFDYVVLAF>I<FLNCITIALERPQIEAGSTERIFLTVSNYI | 1210 |
CACNA1S | FFIFSPTNKIRVLCHRIVNATWFTNFILLF>I<LLSSAALAAEDPI-RADSMRNQILKHFDIG | 838 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I1215V | c.3643A>G | Putative Benign | SIFT: Polyphen: |