Paralogue Annotation for SCN5A residue 1472

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1472
Reference Amino Acid: N - Asparagine
Protein Domain: Interdomain Linker III-IV

Paralogue Variants mapped to SCN5A residue 1472

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN4A	N1297K	Myotonia, non-dystrophic	High	9	18203179
SCN1A	N1485Y	Myoclonic epilepsy of infancy	High	9	23195492
SCN1A	N1485D	Dravet syndrome	High	9	23708187
SCN8A	N1466K	Epileptic encephalopathy, infantile	High	9	24888894
SCN8A	N1466T	Epileptic encephalopathy, infantile	High	9	24888894

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	YNLYMYIYFVIFIIFGSFFTLNLFIGVIID>N<FNQQKKKLGGQDIFMTEEQKKYY------N	1496
SCN1A	ESLYMYLYFVIFIIFGSFFTLNLFIGVIID>N<FNQQKKKFGGQDIFMTEEQKKYY------N	1509
SCN2A	DNLYMYLYFVIFIIFGSFFTLNLFIGVIID>N<FNQQKKKFGGQDIFMTEEQKKYY------N	1499
SCN3A	ENLYMYLYFVIFIIFGSFFTLNLFIGVIID>N<FNQQKKKFGGQDIFMTEEQKKYY------N	1494
SCN4A	VNLYMYLYFVIFIIFGSFFTLNLFIGVIID>N<FNQQKKKLGGKDIFMTEEQKKYY------N	1321
SCN7A	VNIYMYCYFINFIIFGVFLPLSMLITVIID>N<FNKHKIKLGGSNIFITVKQRKQY------R	1219
SCN8A	DNIYMYIYFVIFIIFGSFFTLNLFIGVIID>N<FNQQKKKFGGQDIFMTEEQKKYY------N	1490
SCN9A	YSLYMYIYFVVFIIFGSFFTLNLFIGVIID>N<FNQQKKKLGGQDIFMTEEQKKYY------N	1472
SCN10A	DNVYMYLYFVIFIIFGGFFTLNLFVGVIID>N<FNQQKKKLGGQDIFMTEEQKKYY------N	1444
SCN11A	SNSLGYIYFVVFIIFGSFFTLNLFIGVIID>N<FNQQQKKLGGQDIFMTEEQKKYY------N	1334
CACNA1A	YRMEMSIFYVVYFVVFPFFFVNIFVALIII>T<FQEQGDKM----MEEYSLEKNER------A	1533
CACNA1B	YRMELSIFYVVYFVVFPFFFVNIFVALIII>T<FQEQGDKV----MSECSLEKNER------A	1439
CACNA1C	YRVEISIFFIIYIIIIAFFMMNIFVGFVIV>T<FQEQGEQE----YKNCELDKNQR------Q	1188
CACNA1D	HRVEISIFFIIYIIIVAFFMMNIFVGFVIV>T<FQEQGEKE----YKNCELDKNQR------Q	1194
CACNA1E	NRMEMSIFYVVYFVVFPFFFVNIFVALIII>T<FQEQGDKM----MEECSLEKNER------A	1445
CACNA1F	YRVEISVFFIVYIIIIAFFMMNIFVGFVII>T<FRAQGEQE----YQNCELDKNQR------Q	1159
CACNA1G	HNPWMLLYFISFLLIVAFFVLNMFVGVVVE>N<FHKCRQHQEEEEARRREEKRLRRLEKKRRN	1569
CACNA1H	HNPWMLLYFISFLLIVSFFVLNMFVGVVVE>N<FHKCRQHQEAEEARRREEK----------R	1577
CACNA1I	HNPWMLLYFISFLLIVSFFVLNMFVGVVVE>N<FHKCRQHQEAEEARRREEK----------R	1453
CACNA1S	NRVEMAIFFIIYIILIAFFMMNIFVGFVIV>T<FQEQGETE----YKNCELDKNQR------Q	1087
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N1472S	c.4415A>G	Inherited Arrhythmia	LQTS	rs199473255	SIFT: deleterious Polyphen: benign
Reports		Inherited Arrhythmia	LQTS	Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085