No paralogue variants have been mapped to residue 1230 for SCN5A.
SCN5A | HIVEHSWFETFIIFMILLSSGALAFEDIYL>E<ERKTIKVLLEYADKMFTYVFVLEMLLKWVA | 1260 |
SCN1A | RIVEHNWFETFIVFMILLSSGALAFEDIYI>D<QRKTIKTMLEYADKVFTYIFILEMLLKWVA | 1273 |
SCN2A | KIVEHNWFETFIVFMILLSSGALAFEDIYI>E<QRKTIKTMLEYADKVFTYIFILEMLLKWVA | 1263 |
SCN3A | SIVEHNWFETFIVFMILLSSGALAFEDIYI>E<QRKTIKTMLEYADKVFTYIFILEMLLKWVA | 1261 |
SCN4A | KIVEHNWFETFIVFMILLSSGALAFEDIYI>E<QRRVIRTILEYADKVFTYIFIMEMLLKWVA | 1086 |
SCN7A | KIVENNWFKCFIGLVTLLSTGTLAFEDIYM>D<QRKTIKILLEYADMIFTYIFILEMLLKWMA | 989 |
SCN8A | LIVEHNWFETFIIFMILLSSGALAFEDIYI>E<QRKTIRTILEYADKVFTYIFILEMLLKWTA | 1253 |
SCN9A | KIVEHSWFESFIVLMILLSSGALAFEDIYI>E<RKKTIKIILEYADKIFTYIFILEMLLKWIA | 1236 |
SCN10A | RIVEHSWFESFIIFMILLSSGSLAFEDYYL>D<QKPTVKALLEYTDRVFTFIFVFEMLLKWVA | 1207 |
SCN11A | QIVKHSWFESFIIFVILLSSGALIFEDVHL>E<NQPKIQELLNCTDIIFTHIFILEMVLKWVA | 1111 |
CACNA1A | YILNLRYFEMCILMVIAMSSIALAAEDPV->Q<PNAPRNNVLRYFDYVFTGVFTFEMVIKMID | 1298 |
CACNA1B | YIVTMRYFEVVILVVIALSSIALAAEDPV->R<TDSPRNNALKYLDYIFTGVFTFEMVIKMID | 1205 |
CACNA1C | RIVNDTIFTNLILFFILLSSISLAAEDPV->Q<HTSFRNHILFYFDIVFTTIFTIEIALKMTA | 954 |
CACNA1D | KLINHHIFTNLILVFIMLSSAALAAEDPI->R<SHSFRNTILGYFDYAFTAIFTVEILLKMTT | 960 |
CACNA1E | YIVNLRYFEMCILLVIAASSIALAAEDPV->L<TNSERNKVLRYFDYVFTGVFTFEMVIKMID | 1207 |
CACNA1F | TLIHHHVFTNLILVFIILSSVSLAAEDPI->R<AHSFRNHILGYFDYAFTSIFTVEILLKMTV | 925 |
CACNA1G | RIITHKMFDHVVLVIIFLNCITIAMERPKI>D<PHSAERIFLTLSNYIFTAVFLAEMTVKVVA | 1331 |
CACNA1H | KVITHKMFDHVVLVFIFLNCVTIALERPDI>D<PGSTERVFLSVSNYIFTAIFVAEMMVKVVA | 1349 |
CACNA1I | TIIAHKLFDYVVLAFIFLNCITIALERPQI>E<AGSTERIFLTVSNYIFTAIFVGEMTLKVVS | 1225 |
CACNA1S | RIVNATWFTNFILLFILLSSAALAAEDPI->R<ADSMRNQILKHFDIGFTSVFTVEIVLKMTT | 853 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1230K | c.3688G>A | Putative Benign | SIFT: Polyphen: |