Paralogue Annotation for SCN5A residue 935

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 935
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 935

No paralogue variants have been mapped to residue 935 for SCN5A.



SCN5A-----SGQSLCLLVFLLVMVIGNLVVLNLF>L<ALLLSSFS-ADNLTAP-DEDREM-NNLQL-961
SCN1A-----AGQAMCLTVFMMVMVIGNLVVLNLF>L<ALLLSSFS-ADNLAAT-DDDNEM-NNLQI-1014
SCN2A-----AGQTMCLTVFMMVMVIGNLVVLNLF>L<ALLLSSFS-SDNLAAT-DDDNEM-NNLQI-1005
SCN3A-----AGQTMCLIVFMLVMVIGNLVVLNLF>L<ALLLSSFS-SDNLAAT-DDDNEM-NNLQI-1006
SCN4A-----AGQAMCLTVFLMVMVIGNLVVLNLF>L<ALLLSSFS-ADSLAAS-DEDGEM-NNLQI-824
SCN7A-----AGQSWCIPFYLMVILIGNLLVLYLF>L<A-LVSSFS-SCKDVTA-EENNEA-KNLQL-750
SCN8A-----AGQAMCLIVFMMVMVIGNLVVLNLF>L<ALLLSSFS-ADNLAAT-DDDGEM-NNLQI-999
SCN9A-----AGQAMCLIVYMMVMVIGNLVVLNLF>L<ALLLSSFS-SDNLTAI-EEDPDA-NNLQI-979
SCN10A-----GQKSICLILFLTVMVLGNLVVLNLF>I<ALLLNSFS-ADNLTAP-EDDGEV-NNLQV-912
SCN11AAN---ASSSLCVIVFILITVIGKLVVLNLF>I<ALLLNSFS-NEERNGNLEGEARK-TKVQL-834
CACNA1AQGGV-QGGMVFSIYFIVLTLFGNYTLLNVF>L<AIAVDNLANAQELTKDEQEEEEA-ANQKL-738
CACNA1BQGGV-SKGMFSSFYFIVLTLFGNYTLLNVF>L<AIAVDNLANAQELTKDEEEMEEA-ANQKL-734
CACNA1CYGGPSFPGMLVCIYFIILFICGNYILLNVF>L<AIAVDNLADAESLTSAQKEEEEE-KERKK-777
CACNA1DYGGPSSSGMIVCIYFIILFICGNYILLNVF>L<AIAVDNLADAESLNTAQKEEAEE-KERKK-796
CACNA1EQGGV-SSGMWSAIYFIVLTLFGNYTLLNVF>L<AIAVDNLANAQELTKDEQEEEEA-FNQKH-727
CACNA1FYGGPFFPGMLVCIYFIILFICGNYILLNVF>L<AIAVDNLASGDA-GTAKDKGGEK-SNEKDL782
CACNA1G-T-S----SWAALYFIALMTFGNYVLFNLL>V<AILVEGFQ-AEEISKREDASGQL-SCIQL-987
CACNA1H-T-S----SWAALYFVALMTFGNYVLFNLL>V<AILVEGFQ-AEGDANRSDTDEDKTSVHFEE1040
CACNA1I-T-S----PWASLYFVALMTFGNYVLFNLL>V<AILVEGFQAEGDAN-RSYSDEDQSSSNIE-886
CACNA1SYGGPSYPGMLVCIYFIILFVCGNYILLNVF>L<AIAVDNLAEAESLTSAQKAKAEE-KKRRK-685
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L935Pc.2804T>C Inherited ArrhythmiaBrSSIFT: 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