Paralogue Annotation for SCN5A residue 1704

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1704
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1704

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL1717PDravet syndromeHigh9 23762420
CACNA1AL1749PEpisodic ataxia 2High9 27066515

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.



SCN5AW-----EAG-----IDDMFNFQTFANSMLC>L<FQITTSAGWDGLLSPILNTGPPYCDPTLPN1734
SCN1AR-----EVG-----IDDMFNFETFGNSMIC>L<FQITTSAGWDGLLAPILNSKPPDCDPNKVN1747
SCN2AR-----EVG-----IDDMFNFETFGNSMIC>L<FQITTSAGWDGLLAPILNSGPPDCDPDKDH1737
SCN3AK-----EAG-----IDDMFNFETFGNSMIC>L<FQITTSAGWDGLLAPILNSAPPDCDPDTIH1732
SCN4AK-----ESG-----IDDMFNFETFGNSIIC>L<FEITTSAGWDGLLNPILNSGPPDCDPNLEN1559
SCN7AK-----EAG-----INDVSNFETFGNSMLC>L<FQVAIFAGWDGMLDAIFNSKWSDCDPDKIN1457
SCN8AH-----EAG-----IDDMFNFETFGNSMIC>L<FQITTSAGWDGLLLPILN-RPPDCSLDKEH1727
SCN9AK-----EDG-----INDMFNFETFGNSMIC>L<FQITTSAGWDGLLAPILNSKPPDCDPKKVH1710
SCN10AW-----EAG-----IDDMFNFQTFANSMLC>L<FQITTSAGWDGLLSPILNTGPPYCDPNLPN1684
SCN11AP-----ESG-----IDDIFNFKTFASSMLC>L<FQISTSAGWDSLLSPMLRSKES-CN-----1568
CACNA1AIDVEDEDSDEDEFQITEHNNFRTFFQALML>L<FRSATGEAWHNIMLSCLSG--KPCDKNSGI1777
CACNA1BLDD---DTS-----INRHNNFRTFLQALML>L<FRSATGEAWHEIMLSCLSN--QACDE---Q1674
CACNA1CLND---TTE-----INRNNNFQTFPQAVLL>L<FRCATGEAWQDIMLACMPG--KKCAPESEP1437
CACNA1DMRD---NNQ-----INRNNNFQTFPQAVLL>L<FRCATGEAWQEIMLACLPG--KLCDPESDY1447
CACNA1ELDE---ESH-----INRHNNFRSFFGSLML>L<FRSATGEAWQEIMLSCLGE--KGCEPDTTA1684
CACNA1FLQD---GTQ-----INRNNNFQTFPQAVLL>L<FRCATGEAWQEIMLASLPG--NRCDPESDF1404
CACNA1GCDET---HP--CEGLGRHATFRNFGMAFLT>L<FRVSTGDNWNGIMKDTLRD----CDQEST-1820
CACNA1HCSED---NP--CEGLSRHATFSNFGMAFLT>L<FRVSTGDNWNGIMKDTLRE----CSREDKH1827
CACNA1ICNDE---NP--CEGMSRHATFENFGMAFLT>L<FQVSTGDNWNGIMKDTLRD----CTHDERS1697
CACNA1SLVD---GTQ-----INRNNNFQTFPQAVLL>L<FRCATGEAWQEILLACSYG--KLCDPESDY1344
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1704 for SCN5A.