Paralogue Annotation for SCN5A residue 1701

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1701
Reference Amino Acid: M - Methionine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1701

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AM1714KDravet syndromeHigh9 18930999
SCN1AM1714RMyoclonic epilepsy of infancyHigh9 17054684

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.



SCN5AYVKW-----EAG-----IDDMFNFQTFANS>M<LCLFQITTSAGWDGLLSPILNTGPPYCDPT1731
SCN1AYVKR-----EVG-----IDDMFNFETFGNS>M<ICLFQITTSAGWDGLLAPILNSKPPDCDPN1744
SCN2AYVKR-----EVG-----IDDMFNFETFGNS>M<ICLFQITTSAGWDGLLAPILNSGPPDCDPD1734
SCN3AYVKK-----EAG-----IDDMFNFETFGNS>M<ICLFQITTSAGWDGLLAPILNSAPPDCDPD1729
SCN4AYVKK-----ESG-----IDDMFNFETFGNS>I<ICLFEITTSAGWDGLLNPILNSGPPDCDPN1556
SCN7AYVKK-----EAG-----INDVSNFETFGNS>M<LCLFQVAIFAGWDGMLDAIFNSKWSDCDPD1454
SCN8AYVKH-----EAG-----IDDMFNFETFGNS>M<ICLFQITTSAGWDGLLLPILN-RPPDCSLD1724
SCN9AYVKK-----EDG-----INDMFNFETFGNS>M<ICLFQITTSAGWDGLLAPILNSKPPDCDPK1707
SCN10AHVRW-----EAG-----IDDMFNFQTFANS>M<LCLFQITTSAGWDGLLSPILNTGPPYCDPN1681
SCN11AKVNP-----ESG-----IDDIFNFKTFASS>M<LCLFQISTSAGWDSLLSPMLRSKES-CN--1568
CACNA1ANIGIDVEDEDSDEDEFQITEHNNFRTFFQA>L<MLLFRSATGEAWHNIMLSCLSG--KPCDKN1774
CACNA1BNIALDD---DTS-----INRHNNFRTFLQA>L<MLLFRSATGEAWHEIMLSCLSN--QACDE-1673
CACNA1CKIALND---TTE-----INRNNNFQTFPQA>V<LLLFRCATGEAWQDIMLACMPG--KKCAPE1434
CACNA1DKVAMRD---NNQ-----INRNNNFQTFPQA>V<LLLFRCATGEAWQEIMLACLPG--KLCDPE1444
CACNA1ENIKLDE---ESH-----INRHNNFRSFFGS>L<MLLFRSATGEAWQEIMLSCLGE--KGCEPD1681
CACNA1FKVALQD---GTQ-----INRNNNFQTFPQA>V<LLLFRCATGEAWQEIMLASLPG--NRCDPE1401
CACNA1GDLECDET---HP--CEGLGRHATFRNFGMA>F<LTLFRVSTGDNWNGIMKDTLRD----CDQE1818
CACNA1HRLECSED---NP--CEGLSRHATFSNFGMA>F<LTLFRVSTGDNWNGIMKDTLRE----CSRE1824
CACNA1IKLVCNDE---NP--CEGMSRHATFENFGMA>F<LTLFQVSTGDNWNGIMKDTLRD----CTHD1694
CACNA1SKIALVD---GTQ-----INRNNNFQTFPQA>V<LLLFRCATGEAWQEILLACSYG--KLCDPE1341
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M1701Ic.5103G>T Putative BenignSIFT:
Polyphen: