Paralogue Annotation for SCN5A residue 1691

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1691
Reference Amino Acid: M - Methionine
Protein Domain: TM Domain 4

Paralogue Variants mapped to SCN5A residue 1691

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1A	H1737L	Episodic ataxia 2	Medium	9	15293273

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	YSIFGMANFAYVKW-----EAG-----IDD>M<FNFQTFANSMLCLFQITTSAGWDGLLSPIL	1721
SCN1A	YAIFGMSNFAYVKR-----EVG-----IDD>M<FNFETFGNSMICLFQITTSAGWDGLLAPIL	1734
SCN2A	YAIFGMSNFAYVKR-----EVG-----IDD>M<FNFETFGNSMICLFQITTSAGWDGLLAPIL	1724
SCN3A	YAIFGMSNFAYVKK-----EAG-----IDD>M<FNFETFGNSMICLFQITTSAGWDGLLAPIL	1719
SCN4A	YSIFGMSNFAYVKK-----ESG-----IDD>M<FNFETFGNSIICLFEITTSAGWDGLLNPIL	1546
SCN7A	YAVFGMYNFAYVKK-----EAG-----IND>V<SNFETFGNSMLCLFQVAIFAGWDGMLDAIF	1444
SCN8A	FSIFGMSNFAYVKH-----EAG-----IDD>M<FNFETFGNSMICLFQITTSAGWDGLLLPIL	1715
SCN9A	YAIFGMSNFAYVKK-----EDG-----IND>M<FNFETFGNSMICLFQITTSAGWDGLLAPIL	1697
SCN10A	YSIFGMSSFPHVRW-----EAG-----IDD>M<FNFQTFANSMLCLFQITTSAGWDGLLSPIL	1671
SCN11A	YAILGMNWFSKVNP-----ESG-----IDD>I<FNFKTFASSMLCLFQISTSAGWDSLLSPML	1561
CACNA1A	YAIIGMQVFGNIGIDVEDEDSDEDEFQITE>H<NNFRTFFQALMLLFRSATGEAWHNIMLSCL	1766
CACNA1B	YAIIGMQVFGNIALDD---DTS-----INR>H<NNFRTFLQALMLLFRSATGEAWHEIMLSCL	1666
CACNA1C	YAVIGMQVFGKIALND---TTE-----INR>N<NNFQTFPQAVLLLFRCATGEAWQDIMLACM	1426
CACNA1D	YAVIGMQMFGKVAMRD---NNQ-----INR>N<NNFQTFPQAVLLLFRCATGEAWQEIMLACL	1436
CACNA1E	YAIIGMQVFGNIKLDE---ESH-----INR>H<NNFRSFFGSLMLLFRSATGEAWQEIMLSCL	1673
CACNA1F	YAVIGMQMFGKVALQD---GTQ-----INR>N<NNFQTFPQAVLLLFRCATGEAWQEIMLASL	1393
CACNA1G	FAALGVELFGDLECDET---HP--CEGLGR>H<ATFRNFGMAFLTLFRVSTGDNWNGIMKDTL	1812
CACNA1H	YAALGVELFGRLECSED---NP--CEGLSR>H<ATFSNFGMAFLTLFRVSTGDNWNGIMKDTL	1818
CACNA1I	YAALGVELFGKLVCNDE---NP--CEGMSR>H<ATFENFGMAFLTLFQVSTGDNWNGIMKDTL	1688
CACNA1S	YAVIGMQMFGKIALVD---GTQ-----INR>N<NNFQTFPQAVLLLFRCATGEAWQEILLACS	1333
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Met1691Thr	c.5072T>C	Unknown			SIFT: Polyphen: