Paralogue Annotation for SCN5A residue 1202

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1202
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1202

No paralogue variants have been mapped to residue 1202 for SCN5A.



SCN5A-CPCCAVDTTQAP---GKVWWRLRKTCYHI>V<EHSWFETFIIFMILLSSGALAFEDIYLEER1232
SCN1A-FKCCQINVEEGR---GKQWWNLRRTCFRI>V<EHNWFETFIVFMILLSSGALAFEDIYIDQR1245
SCN2A-FKCCQISIEEGK---GKLWWNLRKTCYKI>V<EHNWFETFIVFMILLSSGALAFEDIYIEQR1235
SCN3A-FPFCQVSTEEGK---GKIWWNLRKTCYSI>V<EHNWFETFIVFMILLSSGALAFEDIYIEQR1233
SCN4A-WPCLYVDISQGR---GKKWWTLRRACFKI>V<EHNWFETFIVFMILLSSGALAFEDIYIEQR1058
SCN7A-SSLGQISGASKK---GKIWQNIRKTCCKI>V<ENNWFKCFIGLVTLLSTGTLAFEDIYMDQR961
SCN8A-FKCCQVNIEEGL---GKSWWILRKTCFLI>V<EHNWFETFIIFMILLSSGALAFEDIYIEQR1225
SCN9A-FSCCQVNIESGK---GKIWWNIRKTCYKI>V<EHSWFESFIVLMILLSSGALAFEDIYIERK1208
SCN10A-CPCCKLDTTKSP---WDVGWQVRKTCYRI>V<EHSWFESFIIFMILLSSGSLAFEDYYLDQK1179
SCN11A-FPCCSVDKRKPP---WVIWWNLRKTCYQI>V<KHSWFESFIIFVILLSSGALIFEDVHLENQ1083
CACNA1AEDGPK-PMPPYSSMFILSTTNPLRRLCHYI>L<NLRYFEMCILMVIAMSSIALAAEDPV-QPN1270
CACNA1BRSGPR-PIVPYSSMFCLSPTNLLRRFCHYI>V<TMRYFEVVILVVIALSSIALAAEDPV-RTD1177
CACNA1CKEKAV-PMPEASAFFIFSSNNRFRLQCHRI>V<NDTIFTNLILFFILLSSISLAAEDPV-QHT926
CACNA1DKEKIA-PIPEGSAFFILSKTNPIRVGCHKL>I<NHHIFTNLILVFIMLSSAALAAEDPI-RSH932
CACNA1EETG-K-AMVPHSSMFIFSTTNPIRRACHYI>V<NLRYFEMCILLVIAASSIALAAEDPV-LTN1179
CACNA1FKEKVV-PIPEGSAFFCLSQTNPLRKGCHTL>I<HHHVFTNLILVFIILSSVSLAAEDPI-RAH897
CACNA1GP-ACCLERDSWSAY-IFPPQSRFRLLCHRI>I<THKMFDHVVLVIIFLNCITIAMERPKIDPH1303
CACNA1HP-QWCRSREAWALY-LFSPQNRFRVSCQKV>I<THKMFDHVVLVFIFLNCVTIALERPDIDPG1321
CACNA1IP-DWCEVREDWSVY-LFSPENRFRVLCQTI>I<AHKLFDYVVLAFIFLNCITIALERPQIEAG1197
CACNA1SKEKAV-PIPEASSFFIFSPTNKIRVLCHRI>V<NATWFTNFILLFILLSSAALAAEDPI-RAD825
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1202Mc.3604G>A Putative BenignSIFT: deleterious
Polyphen: probably damaging