Paralogue Annotation for SCN5A residue 416

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 416
Reference Amino Acid: Y - Tyrosine
Protein Domain: Interdomain Linker I-II

Paralogue Variants mapped to SCN5A residue 416

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	Y426N	Myoclonic epilepsy of infancy	High	9	12821740, 17054685, 26648591
SCN1A	Y426C	Dravet syndrome	High	9	18930999, 23195492
CACNA1A	F363S	Hemiplegic migraine	Medium	9	20837964

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	KIY-MIFFMLVIFLGSFYLVNLILAVVAMA>Y<EEQNQATIAETEEK-EKRFQEAMEMLKK--	443
SCN1A	KTY-MIFFVLVIFLGSFYLINLILAVVAMA>Y<EEQNQATLEEAEQK-EAEFQQMIEQLKK--	453
SCN2A	KTY-MIFFVLVIFLGSFYLINLILAVVAMA>Y<EEQNQATLEEAEQK-EAEFQQMLEQLKK--	455
SCN3A	KTY-MIFFVLVIFLGSFYLVNLILAVVAMA>Y<EEQNQATLEEAEQK-EAEFQQMLEQLKK--	454
SCN4A	KTY-MIFFVVIIFLGSFYLINLILAVVAMA>Y<AEQNEATLAEDKEK-EEEFQQMLEKFKK--	477
SCN7A	KVY-MIFFVVVSFLFSFYMASLFLGILAMA>Y<EEEKQRVGEISKKI-EPKFQQTGKELQE--	424
SCN8A	KTY-MIFFVLVIFVGSFYLVNLILAVVAMA>Y<EEQNQATLEEAEQK-EAEFKAMLEQLKK--	441
SCN9A	KTY-MIFFVVVIFLGSFYLINLILAVVAMA>Y<EEQNQANIEEAKQK-ELEFQQMLDRLKK--	432
SCN10A	KIY-MIFFVLVIFLGSFYLVNLILAVVTMA>Y<EEQNQATTDEIEAK-EKKFQEALEMLRK--	427
SCN11A	LYS-VFFFIVVIFLGSFYLINLTLAVVTMA>Y<EEQNKNVAAEIEAK-EKMFQEAQQLLKE--	430
CACNA1A	NTWNWLYFIPLIIIGSFFMLNLVLGVLSGE>F<AKERERVENRRAFLKLRRQQQIERELNG--	391
CACNA1B	NTWNWLYFIPLIIIGSFFMLNLVLGVLSGE>F<AKERERVENRRAFLKLRRQQQIERELNG--	387
CACNA1C	RDWPWIYFVTLIIIGSFFVLNLVLGVLSGE>F<SKEREKAKARGDFQKLREKQQLEEDLKG--	436
CACNA1D	WEWPWVYFVSLIILGSFFVLNLVLGVLSGE>F<SKEREKAKARGDFQKLREKQQLEEDLKG--	437
CACNA1E	ATWNWLYFIPLIIIGSFFVLNLVLGVLSGE>F<AKERERVENRRAFMKLRRQQQIERELNG--	382
CACNA1F	YELPWVYFVSLVIFGSFFVLNLVLGVLSGE>F<SKEREKAKARGDFQKQREKQQMEEDLRG--	403
CACNA1G	F-YNFIYFILLIIVGSFFMINLCLVVIATQ>F<SETKQRESQLMREQRVRFLSNASTLASFSE	428
CACNA1H	F-YNFIYFILLIIVGSFFMINLCLVVIATQ>F<SETKQRESQLMREQRARHLSNDSTLASFSE	452
CACNA1I	F-YNFIYFILLIIVGSFFMINLCLVVIATQ>F<SETKQREHRLMLEQRQRYLS-SSTVASYAE	430
CACNA1S	NEWPWIYFVTLILLGSFFILNLVLGVLSGE>F<TKEREKAKSRGTFQKLREKQQLDEDLRG--	365
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y416C	c.1247A>G	Putative Benign		rs372395294	SIFT: deleterious Polyphen: probably damaging