Paralogue Annotation for SCN5A residue 1251

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1251
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1251

No paralogue variants have been mapped to residue 1251 for SCN5A.



SCN5AALAFEDIYLEERKTIKVLLEYADKMFTYVF>V<LEMLLKWVAYGF----KKYFTNAWCWLDFL1277
SCN1AALAFEDIYIDQRKTIKTMLEYADKVFTYIF>I<LEMLLKWVAYGY----QTYFTNAWCWLDFL1290
SCN2AALAFEDIYIEQRKTIKTMLEYADKVFTYIF>I<LEMLLKWVAYGF----QVYFTNAWCWLDFL1280
SCN3AALAFEDIYIEQRKTIKTMLEYADKVFTYIF>I<LEMLLKWVAYGF----QTYFTNAWCWLDFL1278
SCN4AALAFEDIYIEQRRVIRTILEYADKVFTYIF>I<MEMLLKWVAYGF----KVYFTNAWCWLDFL1103
SCN7ATLAFEDIYMDQRKTIKILLEYADMIFTYIF>I<LEMLLKWMAYGF----KAYFSNGWYRLDFV1006
SCN8AALAFEDIYIEQRKTIRTILEYADKVFTYIF>I<LEMLLKWTAYGF----VKFFTNAWCWLDFL1270
SCN9AALAFEDIYIERKKTIKIILEYADKIFTYIF>I<LEMLLKWIAYGY----KTYFTNAWCWLDFL1253
SCN10ASLAFEDYYLDQKPTVKALLEYTDRVFTFIF>V<FEMLLKWVAYGF----KKYFTNAWCWLDFL1224
SCN11AALIFEDVHLENQPKIQELLNCTDIIFTHIF>I<LEMVLKWVAFGF----GKYFTSAWCCLDFI1128
CACNA1AALAAEDPV-QPNAPRNNVLRYFDYVFTGVF>T<FEMVIKMIDLGLVLHQGAYFRDLWNILDFI1319
CACNA1BALAAEDPV-RTDSPRNNALKYLDYIFTGVF>T<FEMVIKMIDLGLLLHPGAYFRDLWNILDFI1226
CACNA1CSLAAEDPV-QHTSFRNHILFYFDIVFTTIF>T<IEIALKMTAYGAFLHKGSFCRNYFNILDLL975
CACNA1DALAAEDPI-RSHSFRNTILGYFDYAFTAIF>T<VEILLKMTTFGAFLHKGAFCRNYFNLLDML981
CACNA1EALAAEDPV-LTNSERNKVLRYFDYVFTGVF>T<FEMVIKMIDQGLILQDGSYFRDLWNILDFV1228
CACNA1FSLAAEDPI-RAHSFRNHILGYFDYAFTSIF>T<VEILLKMTVFGAFLHRGSFCRSWFNMLDLL946
CACNA1GTIAMERPKIDPHSAERIFLTLSNYIFTAVF>L<AEMTVKVVALGWCFGEQAYLRSSWNVLDGL1352
CACNA1HTIALERPDIDPGSTERVFLSVSNYIFTAIF>V<AEMMVKVVALGLLSGEHAYLQSSWNLLDGL1370
CACNA1ITIALERPQIEAGSTERIFLTVSNYIFTAIF>V<GEMTLKVVSLGLYFGEQAYLRSSWNVLDGF1246
CACNA1SALAAEDPI-RADSMRNQILKHFDIGFTSVF>T<VEIVLKMTTYGAFLHKGSFCRNYFNMLDLL874
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1251Mc.3751G>A Putative Benignrs199473600SIFT: deleterious
Polyphen: probably damaging
ReportsPutative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Putative Benign An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283