Paralogue Annotation for SCN5A residue 1335

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1335
Reference Amino Acid: M - Methionine
Protein Domain: TM Domain 3

Paralogue Variants mapped to SCN5A residue 1335

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN2A	M1338T	Ohtahara syndrome	High	9	23935176
SCN1A	M1348I	Dravet syndrome	High	9	26096185

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	LRALRPLRALSRFEGMRVVVNALVGAIPSI>M<NVLLVCLIFWLIFSIMGVNLFAGKFGRCIN	1365
SCN1A	LRALRPLRALSRFEGMRVVVNALLGAIPSI>M<NVLLVCLIFWLIFSIMGVNLFAGKFYHCIN	1378
SCN2A	LRALRPLRALSRFEGMRVVVNALLGAIPSI>M<NVLLVCLIFWLIFSIMGVNLFAGKFYHCIN	1368
SCN3A	LRALRPLRALSRFEGMRVVVNALVGAIPSI>M<NVLLVCLIFWLIFSIMGVNLFAGKFYHCVN	1366
SCN4A	LRALRPLRALSRFEGMRVVVNALLGAIPSI>M<NVLLVCLIFWLIFSIMGVNLFAGKFYYCIN	1191
SCN7A	MKFLRPLRVLSQFERMKVVVRALIKTTLPT>L<NVFLVCLMIWLIFSIMGVDLFAGRFYECID	1089
SCN8A	LRALRPLRALSRFEGMRVVVNALVGAIPSI>M<NVLLVCLIFWLIFSIMGVNLFAGKYHYCFN	1358
SCN9A	LRALRPLRALSRFEGMRVVVNALIGAIPSI>M<NVLLVCLIFWLIFSIMGVNLFAGKFYECIN	1341
SCN10A	LRALRPLRALSRFEGMRVVVDALVGAIPSI>M<NVLLVCLIFWLIFSIMGVNLFAGKFWRCIN	1312
SCN11A	LRALRPLRALSQFEGMKVVVNALIGAIPAI>L<NVLLVCLIFWLVFCILGVYFFSGKFGKCIN	1209
CACNA1A	LRVLRPLKTIKRLPKLKAVFDCVVNSLKNV>F<NILIVYMLFMFIFAVVAVQLFKGKFFHCTD	1408
CACNA1B	LRVLRPLKTIKRLPKLKAVFDCVVNSLKNV>L<NILIVYMLFMFIFAVIAVQLFKGKFFYCTD	1314
CACNA1C	LRVLRPLRAINRAKGLKHVVQCVFVAIRTI>G<NIVIVTTLLQFMFACIGVQLFKGKLYTCSD	1060
CACNA1D	LRVLRPLRAINRAKGLKHVVQCVFVAIRTI>G<NIMIVTTLLQFMFACIGVQLFKGKFYRCTD	1066
CACNA1E	LRVLRPLKTIKRLPKLKAVFDCVVTSLKNV>F<NILIVYKLFMFIFAVIAVQLFKGKFFYCTD	1320
CACNA1F	LRVLRPLRAINRAKGLKHVVQCVFVAIRTI>G<NIMIVTTLLQFMFACIGVQLFKGKFYTCTD	1031
CACNA1G	LRTLRPLRVISRAQGLKLVVETLMSSLKPI>G<NIVVICCAFFIIFGILGVQLFKGKFFVCQG	1443
CACNA1H	LRTLRPLRVISRAPGLKLVVETLISSLRPI>G<NIVLICCAFFIIFGILGVQLFKGKFYYCEG	1461
CACNA1I	LRTLRPLRVISRAPGLKLVVETLISSLKPI>G<NIVLICCAFFIIFGILGVQLFKGKFYHCLG	1337
CACNA1S	LRVLRPLRAINRAKGLKHVVQCMFVAISTI>G<NIVLVTTLLQFMFACIGVQLFKGKFFRCTD	959
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M1335V	c.4003A>G	Putative Benign		rs374268607	SIFT: deleterious Polyphen: benign