Paralogue Annotation for SCN5A residue 1331

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1331
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 3

Paralogue Variants mapped to SCN5A residue 1331

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	I1344M	Myoclonic epilepsy of infancy	High	9	23195492

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	SLRTLRALRPLRALSRFEGMRVVVNALVGA>I<PSIMNVLLVCLIFWLIFSIMGVNLFAGKFG	1361
SCN1A	SLRTLRALRPLRALSRFEGMRVVVNALLGA>I<PSIMNVLLVCLIFWLIFSIMGVNLFAGKFY	1374
SCN2A	SLRTLRALRPLRALSRFEGMRVVVNALLGA>I<PSIMNVLLVCLIFWLIFSIMGVNLFAGKFY	1364
SCN3A	SLRTLRALRPLRALSRFEGMRVVVNALVGA>I<PSIMNVLLVCLIFWLIFSIMGVNLFAGKFY	1362
SCN4A	SLRTLRALRPLRALSRFEGMRVVVNALLGA>I<PSIMNVLLVCLIFWLIFSIMGVNLFAGKFY	1187
SCN7A	PLISMKFLRPLRVLSQFERMKVVVRALIKT>T<LPTLNVFLVCLMIWLIFSIMGVDLFAGRFY	1085
SCN8A	SLRTLRALRPLRALSRFEGMRVVVNALVGA>I<PSIMNVLLVCLIFWLIFSIMGVNLFAGKYH	1354
SCN9A	SLRTLRALRPLRALSRFEGMRVVVNALIGA>I<PSIMNVLLVCLIFWLIFSIMGVNLFAGKFY	1337
SCN10A	ALRTLRALRPLRALSRFEGMRVVVDALVGA>I<PSIMNVLLVCLIFWLIFSIMGVNLFAGKFW	1308
SCN11A	SFRTLRALRPLRALSQFEGMKVVVNALIGA>I<PAILNVLLVCLIFWLVFCILGVYFFSGKFG	1205
CACNA1A	SLRVLRVLRPLKTIKRLPKLKAVFDCVVNS>L<KNVFNILIVYMLFMFIFAVVAVQLFKGKFF	1404
CACNA1B	SLRVLRVLRPLKTIKRLPKLKAVFDCVVNS>L<KNVLNILIVYMLFMFIFAVIAVQLFKGKFF	1310
CACNA1C	ILRVLRVLRPLRAINRAKGLKHVVQCVFVA>I<RTIGNIVIVTTLLQFMFACIGVQLFKGKLY	1056
CACNA1D	ILRVLRVLRPLRAINRAKGLKHVVQCVFVA>I<RTIGNIMIVTTLLQFMFACIGVQLFKGKFY	1062
CACNA1E	SLRVLRVLRPLKTIKRLPKLKAVFDCVVTS>L<KNVFNILIVYKLFMFIFAVIAVQLFKGKFF	1316
CACNA1F	ILRVLRVLRPLRAINRAKGLKHVVQCVFVA>I<RTIGNIMIVTTLLQFMFACIGVQLFKGKFY	1027
CACNA1G	VLRLLRTLRPLRVISRAQGLKLVVETLMSS>L<KPIGNIVVICCAFFIIFGILGVQLFKGKFF	1439
CACNA1H	VLRLLRTLRPLRVISRAPGLKLVVETLISS>L<RPIGNIVLICCAFFIIFGILGVQLFKGKFY	1457
CACNA1I	VLRLLRTLRPLRVISRAPGLKLVVETLISS>L<KPIGNIVLICCAFFIIFGILGVQLFKGKFY	1333
CACNA1S	ILRVLRVLRPLRAINRAKGLKHVVQCMFVA>I<STIGNIVLVTTLLQFMFACIGVQLFKGKFF	955
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I1331M	c.3993C>G	Putative Benign		rs376561306	SIFT: deleterious Polyphen: probably damaging