Paralogue Annotation for SCN5A residue 934

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 934
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 934

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FF753CNight blindness, congenital stationary, incompleteHigh9 12111638, 17949918
SCN1AF987LMyoclonic epilepsy of infancyHigh9 23195492
CACNA1EF698SEpileptic encephalopathy with infantile spasmsHigh9 26795593

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.



SCN5AV-----SGQSLCLLVFLLVMVIGNLVVLNL>F<LALLLSSFS-ADNLTAP-DEDREM-NNLQL961
SCN1AV-----AGQAMCLTVFMMVMVIGNLVVLNL>F<LALLLSSFS-ADNLAAT-DDDNEM-NNLQI1014
SCN2AV-----AGQTMCLTVFMMVMVIGNLVVLNL>F<LALLLSSFS-SDNLAAT-DDDNEM-NNLQI1005
SCN3AV-----AGQTMCLIVFMLVMVIGNLVVLNL>F<LALLLSSFS-SDNLAAT-DDDNEM-NNLQI1006
SCN4AV-----AGQAMCLTVFLMVMVIGNLVVLNL>F<LALLLSSFS-ADSLAAS-DEDGEM-NNLQI824
SCN7AV-----AGQSWCIPFYLMVILIGNLLVLYL>F<LA-LVSSFS-SCKDVTA-EENNEA-KNLQL750
SCN8AV-----AGQAMCLIVFMMVMVIGNLVVLNL>F<LALLLSSFS-ADNLAAT-DDDGEM-NNLQI999
SCN9AV-----AGQAMCLIVYMMVMVIGNLVVLNL>F<LALLLSSFS-SDNLTAI-EEDPDA-NNLQI979
SCN10AV-----GQKSICLILFLTVMVLGNLVVLNL>F<IALLLNSFS-ADNLTAP-EDDGEV-NNLQV912
SCN11AEAN---ASSSLCVIVFILITVIGKLVVLNL>F<IALLLNSFS-NEERNGNLEGEARK-TKVQL834
CACNA1ASQGGV-QGGMVFSIYFIVLTLFGNYTLLNV>F<LAIAVDNLANAQELTKDEQEEEEA-ANQKL738
CACNA1BSQGGV-SKGMFSSFYFIVLTLFGNYTLLNV>F<LAIAVDNLANAQELTKDEEEMEEA-ANQKL734
CACNA1CAYGGPSFPGMLVCIYFIILFICGNYILLNV>F<LAIAVDNLADAESLTSAQKEEEEE-KERKK777
CACNA1DAYGGPSSSGMIVCIYFIILFICGNYILLNV>F<LAIAVDNLADAESLNTAQKEEAEE-KERKK796
CACNA1ESQGGV-SSGMWSAIYFIVLTLFGNYTLLNV>F<LAIAVDNLANAQELTKDEQEEEEA-FNQKH727
CACNA1FAYGGPFFPGMLVCIYFIILFICGNYILLNV>F<LAIAVDNLASGDA-GTAKDKGGEK-SNEKD781
CACNA1GS-T-S----SWAALYFIALMTFGNYVLFNL>L<VAILVEGFQ-AEEISKREDASGQL-SCIQL987
CACNA1HS-T-S----SWAALYFVALMTFGNYVLFNL>L<VAILVEGFQ-AEGDANRSDTDEDKTSVHFE1039
CACNA1IS-T-S----PWASLYFVALMTFGNYVLFNL>L<VAILVEGFQAEGDAN-RSYSDEDQSSSNIE886
CACNA1SAYGGPSYPGMLVCIYFIILFVCGNYILLNV>F<LAIAVDNLAEAESLTSAQKAKAEE-KKRRK685
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 934 for SCN5A.