Paralogue Annotation for SCN5A residue 1230

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1230
Reference Amino Acid: E - Glutamate
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1230

No paralogue variants have been mapped to residue 1230 for SCN5A.



SCN5AHIVEHSWFETFIIFMILLSSGALAFEDIYL>E<ERKTIKVLLEYADKMFTYVFVLEMLLKWVA1260
SCN1ARIVEHNWFETFIVFMILLSSGALAFEDIYI>D<QRKTIKTMLEYADKVFTYIFILEMLLKWVA1273
SCN2AKIVEHNWFETFIVFMILLSSGALAFEDIYI>E<QRKTIKTMLEYADKVFTYIFILEMLLKWVA1263
SCN3ASIVEHNWFETFIVFMILLSSGALAFEDIYI>E<QRKTIKTMLEYADKVFTYIFILEMLLKWVA1261
SCN4AKIVEHNWFETFIVFMILLSSGALAFEDIYI>E<QRRVIRTILEYADKVFTYIFIMEMLLKWVA1086
SCN7AKIVENNWFKCFIGLVTLLSTGTLAFEDIYM>D<QRKTIKILLEYADMIFTYIFILEMLLKWMA989
SCN8ALIVEHNWFETFIIFMILLSSGALAFEDIYI>E<QRKTIRTILEYADKVFTYIFILEMLLKWTA1253
SCN9AKIVEHSWFESFIVLMILLSSGALAFEDIYI>E<RKKTIKIILEYADKIFTYIFILEMLLKWIA1236
SCN10ARIVEHSWFESFIIFMILLSSGSLAFEDYYL>D<QKPTVKALLEYTDRVFTFIFVFEMLLKWVA1207
SCN11AQIVKHSWFESFIIFVILLSSGALIFEDVHL>E<NQPKIQELLNCTDIIFTHIFILEMVLKWVA1111
CACNA1AYILNLRYFEMCILMVIAMSSIALAAEDPV->Q<PNAPRNNVLRYFDYVFTGVFTFEMVIKMID1298
CACNA1BYIVTMRYFEVVILVVIALSSIALAAEDPV->R<TDSPRNNALKYLDYIFTGVFTFEMVIKMID1205
CACNA1CRIVNDTIFTNLILFFILLSSISLAAEDPV->Q<HTSFRNHILFYFDIVFTTIFTIEIALKMTA954
CACNA1DKLINHHIFTNLILVFIMLSSAALAAEDPI->R<SHSFRNTILGYFDYAFTAIFTVEILLKMTT960
CACNA1EYIVNLRYFEMCILLVIAASSIALAAEDPV->L<TNSERNKVLRYFDYVFTGVFTFEMVIKMID1207
CACNA1FTLIHHHVFTNLILVFIILSSVSLAAEDPI->R<AHSFRNHILGYFDYAFTSIFTVEILLKMTV925
CACNA1GRIITHKMFDHVVLVIIFLNCITIAMERPKI>D<PHSAERIFLTLSNYIFTAVFLAEMTVKVVA1331
CACNA1HKVITHKMFDHVVLVFIFLNCVTIALERPDI>D<PGSTERVFLSVSNYIFTAIFVAEMMVKVVA1349
CACNA1ITIIAHKLFDYVVLAFIFLNCITIALERPQI>E<AGSTERIFLTVSNYIFTAIFVGEMTLKVVS1225
CACNA1SRIVNATWFTNFILLFILLSSAALAAEDPI->R<ADSMRNQILKHFDIGFTSVFTVEIVLKMTT853
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1230Kc.3688G>A Putative BenignSIFT:
Polyphen: