Paralogue Annotation for SCN5A residue 928

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 928
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 928

No paralogue variants have been mapped to residue 928 for SCN5A.



SCN5AMWDCMEV-----SGQSLCLLVFLLVMVIGN>L<VVLNLFLALLLSSFS-ADNLTAP-DEDREM956
SCN1AMWDCMEV-----AGQAMCLTVFMMVMVIGN>L<VVLNLFLALLLSSFS-ADNLAAT-DDDNEM1009
SCN2AMWDCMEV-----AGQTMCLTVFMMVMVIGN>L<VVLNLFLALLLSSFS-SDNLAAT-DDDNEM1000
SCN3AMWDCMEV-----AGQTMCLIVFMLVMVIGN>L<VVLNLFLALLLSSFS-SDNLAAT-DDDNEM1001
SCN4AMWDCMEV-----AGQAMCLTVFLMVMVIGN>L<VVLNLFLALLLSSFS-ADSLAAS-DEDGEM819
SCN7ALWDCMEV-----AGQSWCIPFYLMVILIGN>L<LVLYLFLA-LVSSFS-SCKDVTA-EENNEA745
SCN8AMWDCMEV-----AGQAMCLIVFMMVMVIGN>L<VVLNLFLALLLSSFS-ADNLAAT-DDDGEM994
SCN9AMWDCMEV-----AGQAMCLIVYMMVMVIGN>L<VVLNLFLALLLSSFS-SDNLTAI-EEDPDA974
SCN10AMWACMEV-----GQKSICLILFLTVMVLGN>L<VVLNLFIALLLNSFS-ADNLTAP-EDDGEV907
SCN11AMWECMQEAN---ASSSLCVIVFILITVIGK>L<VVLNLFIALLLNSFS-NEERNGNLEGEARK829
CACNA1AMYDGIKSQGGV-QGGMVFSIYFIVLTLFGN>Y<TLLNVFLAIAVDNLANAQELTKDEQEEEEA733
CACNA1BMYHGIESQGGV-SKGMFSSFYFIVLTLFGN>Y<TLLNVFLAIAVDNLANAQELTKDEEEMEEA729
CACNA1CMYDGIMAYGGPSFPGMLVCIYFIILFICGN>Y<ILLNVFLAIAVDNLADAESLTSAQKEEEEE772
CACNA1DMYDGIMAYGGPSSSGMIVCIYFIILFICGN>Y<ILLNVFLAIAVDNLADAESLNTAQKEEAEE791
CACNA1EMYNGIRSQGGV-SSGMWSAIYFIVLTLFGN>Y<TLLNVFLAIAVDNLANAQELTKDEQEEEEA722
CACNA1FMYDGIMAYGGPFFPGMLVCIYFIILFICGN>Y<ILLNVFLAIAVDNLASGDA-GTAKDKGGEK776
CACNA1GLYNGMAS-T-S----SWAALYFIALMTFGN>Y<VLFNLLVAILVEGFQ-AEEISKREDASGQL982
CACNA1HLYNGMAS-T-S----SWAALYFVALMTFGN>Y<VLFNLLVAILVEGFQ-AEGDANRSDTDEDK1033
CACNA1ILYNGMAS-T-S----PWASLYFVALMTFGN>Y<VLFNLLVAILVEGFQAEGDAN-RSYSDEDQ880
CACNA1SMYNGIMAYGGPSYPGMLVCIYFIILFVCGN>Y<ILLNVFLAIAVDNLAEAESLTSAQKAKAEE680
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L928Pc.2783T>C Inherited ArrhythmiaBrSrs199473178SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS 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