Paralogue Annotation for SCN5A residue 938

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 938
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 938

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AA713TLennox-Gastaut syndromeMedium9 23934111, 27476654

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.



SCN5A--SGQSLCLLVFLLVMVIGNLVVLNLFLAL>L<LSSFS-ADNLTAP-DEDREM-NNLQL-ALA964
SCN1A--AGQAMCLTVFMMVMVIGNLVVLNLFLAL>L<LSSFS-ADNLAAT-DDDNEM-NNLQI-AVD1017
SCN2A--AGQTMCLTVFMMVMVIGNLVVLNLFLAL>L<LSSFS-SDNLAAT-DDDNEM-NNLQI-AVG1008
SCN3A--AGQTMCLIVFMLVMVIGNLVVLNLFLAL>L<LSSFS-SDNLAAT-DDDNEM-NNLQI-AVG1009
SCN4A--AGQAMCLTVFLMVMVIGNLVVLNLFLAL>L<LSSFS-ADSLAAS-DEDGEM-NNLQI-AIG827
SCN7A--AGQSWCIPFYLMVILIGNLLVLYLFLA->L<VSSFS-SCKDVTA-EENNEA-KNLQL-AVA753
SCN8A--AGQAMCLIVFMMVMVIGNLVVLNLFLAL>L<LSSFS-ADNLAAT-DDDGEM-NNLQI-SVI1002
SCN9A--AGQAMCLIVYMMVMVIGNLVVLNLFLAL>L<LSSFS-SDNLTAI-EEDPDA-NNLQI-AVT982
SCN10A--GQKSICLILFLTVMVLGNLVVLNLFIAL>L<LNSFS-ADNLTAP-EDDGEV-NNLQV-ALA915
SCN11A--ASSSLCVIVFILITVIGKLVVLNLFIAL>L<LNSFS-NEERNGNLEGEARK-TKVQL-ALD837
CACNA1AV-QGGMVFSIYFIVLTLFGNYTLLNVFLAI>A<VDNLANAQELTKDEQEEEEA-ANQKL-ALQ741
CACNA1BV-SKGMFSSFYFIVLTLFGNYTLLNVFLAI>A<VDNLANAQELTKDEEEMEEA-ANQKL-ALQ737
CACNA1CPSFPGMLVCIYFIILFICGNYILLNVFLAI>A<VDNLADAESLTSAQKEEEEE-KERKK-LAR780
CACNA1DPSSSGMIVCIYFIILFICGNYILLNVFLAI>A<VDNLADAESLNTAQKEEAEE-KERKK-IAR799
CACNA1EV-SSGMWSAIYFIVLTLFGNYTLLNVFLAI>A<VDNLANAQELTKDEQEEEEA-FNQKH-ALQ730
CACNA1FPFFPGMLVCIYFIILFICGNYILLNVFLAI>A<VDNLASGDA-GTAKDKGGEK-SNEKDLPQE785
CACNA1GS----SWAALYFIALMTFGNYVLFNLLVAI>L<VEGFQ-AEEISKREDASGQL-SCIQL-PVD990
CACNA1HS----SWAALYFVALMTFGNYVLFNLLVAI>L<VEGFQ-AEGDANRSDTDEDKTSVHFEEDFH1043
CACNA1IS----PWASLYFVALMTFGNYVLFNLLVAI>L<VEGFQAEGDAN-RSYSDEDQSSSNIE-EFD889
CACNA1SPSYPGMLVCIYFIILFVCGNYILLNVFLAI>A<VDNLAEAESLTSAQKAKAEE-KKRRK-MSK688
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 938 for SCN5A.