No paralogue variants have been mapped to residue 1202 for SCN5A.
SCN5A | -CPCCAVDTTQAP---GKVWWRLRKTCYHI>V<EHSWFETFIIFMILLSSGALAFEDIYLEER | 1232 |
SCN1A | -FKCCQINVEEGR---GKQWWNLRRTCFRI>V<EHNWFETFIVFMILLSSGALAFEDIYIDQR | 1245 |
SCN2A | -FKCCQISIEEGK---GKLWWNLRKTCYKI>V<EHNWFETFIVFMILLSSGALAFEDIYIEQR | 1235 |
SCN3A | -FPFCQVSTEEGK---GKIWWNLRKTCYSI>V<EHNWFETFIVFMILLSSGALAFEDIYIEQR | 1233 |
SCN4A | -WPCLYVDISQGR---GKKWWTLRRACFKI>V<EHNWFETFIVFMILLSSGALAFEDIYIEQR | 1058 |
SCN7A | -SSLGQISGASKK---GKIWQNIRKTCCKI>V<ENNWFKCFIGLVTLLSTGTLAFEDIYMDQR | 961 |
SCN8A | -FKCCQVNIEEGL---GKSWWILRKTCFLI>V<EHNWFETFIIFMILLSSGALAFEDIYIEQR | 1225 |
SCN9A | -FSCCQVNIESGK---GKIWWNIRKTCYKI>V<EHSWFESFIVLMILLSSGALAFEDIYIERK | 1208 |
SCN10A | -CPCCKLDTTKSP---WDVGWQVRKTCYRI>V<EHSWFESFIIFMILLSSGSLAFEDYYLDQK | 1179 |
SCN11A | -FPCCSVDKRKPP---WVIWWNLRKTCYQI>V<KHSWFESFIIFVILLSSGALIFEDVHLENQ | 1083 |
CACNA1A | EDGPK-PMPPYSSMFILSTTNPLRRLCHYI>L<NLRYFEMCILMVIAMSSIALAAEDPV-QPN | 1270 |
CACNA1B | RSGPR-PIVPYSSMFCLSPTNLLRRFCHYI>V<TMRYFEVVILVVIALSSIALAAEDPV-RTD | 1177 |
CACNA1C | KEKAV-PMPEASAFFIFSSNNRFRLQCHRI>V<NDTIFTNLILFFILLSSISLAAEDPV-QHT | 926 |
CACNA1D | KEKIA-PIPEGSAFFILSKTNPIRVGCHKL>I<NHHIFTNLILVFIMLSSAALAAEDPI-RSH | 932 |
CACNA1E | ETG-K-AMVPHSSMFIFSTTNPIRRACHYI>V<NLRYFEMCILLVIAASSIALAAEDPV-LTN | 1179 |
CACNA1F | KEKVV-PIPEGSAFFCLSQTNPLRKGCHTL>I<HHHVFTNLILVFIILSSVSLAAEDPI-RAH | 897 |
CACNA1G | P-ACCLERDSWSAY-IFPPQSRFRLLCHRI>I<THKMFDHVVLVIIFLNCITIAMERPKIDPH | 1303 |
CACNA1H | P-QWCRSREAWALY-LFSPQNRFRVSCQKV>I<THKMFDHVVLVFIFLNCVTIALERPDIDPG | 1321 |
CACNA1I | P-DWCEVREDWSVY-LFSPENRFRVLCQTI>I<AHKLFDYVVLAFIFLNCITIALERPQIEAG | 1197 |
CACNA1S | KEKAV-PIPEASSFFIFSPTNKIRVLCHRI>V<NATWFTNFILLFILLSSAALAAEDPI-RAD | 825 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1202M | c.3604G>A | Putative Benign | rs375509048 | SIFT: deleterious Polyphen: probably damaging |