Paralogue Annotation for SCN5A residue 348

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 348
Reference Amino Acid: P - Proline
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 348

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	P358T	Myoclonic epilepsy of infancy	High	9	17561957
SCN1A	P358S	Dravet syndrome	High	9	24168886
SCN4A	P382T	Myopathy, congenital	High	9	26700687

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	SDVLLCGNSSDAG-T-C-PEGYRCLKAGEN>P<DHGYTSFDSFAWAFLALFRLMTQDCWERLY	378
SCN1A	LDALLCGNSSDAG-Q-C-PEGYMCVKAGRN>P<NYGYTSFDTFSWAFLSLFRLMTQDFWENLY	388
SCN2A	NDALLCGNSSDAG-Q-C-PEGYICVKAGRN>P<NYGYTSFDTFSWAFLSLFRLMTQDFWENLY	390
SCN3A	KDPLLCGNGSDAG-Q-C-PEGYICVKAGRN>P<NYGYTSFDTFSWAFLSLFRLMTQDYWENLY	389
SCN4A	NDALLCGNSSDAG-H-C-PEGYECIKTGRN>P<NYGYTSYDTFSWAFLALFRLMTQDYWENLF	412
SCN7A	RYALLCGNRTDAG-Q-C-PEGYVCVKAGIN>P<DQGFTNFDSFGWALFALFRLMAQDYPEVLY	359
SCN8A	LEPLLCGNSSDAG-Q-C-PEGYQCMKAGRN>P<NYGYTSFDTFSWAFLALFRLMTQDYWENLY	376
SCN9A	KDALLCGFSTDSG-Q-C-PEGYTCVKIGRN>P<DYGYTSFDTFSWAFLALFRLMTQDYWENLY	367
SCN10A	SDPLLCGNGSDSG-H-C-PDGYICLKTSDN>P<DFNYTSFDSFAWAFLSLFRLMTQDSWERLY	362
SCN11A	PEFKMCGIWMGNS-A-C-SIQYECKHTKIN>P<DYNYTNFDNFGWSFLAMFRLMTQDSWEKLY	365
CACNA1A	-SPAPCGTEEPA-RT-C-PNGTKCQPYWEG>P<NNGITQFDNILFAVLTVFQCITMEGWTDLL	324
CACNA1B	-GDFPCGKEAPA-RL-C-EGDTECREYWPG>P<NFGITNFDNILFAILTVFQCITMEGWTDIL	320
CACNA1C	-DPSPCALETGHGRQ-CQN-GTVCKPGWDG>P<KHGITNFDNFAFAMLTVFQCITMEGWTDVL	369
CACNA1D	-DPAPCAFSGNGR-Q-CTANGTECRSGWVG>P<NGGITNFDNFAFAMLTVFQCITMEGWTDVL	370
CACNA1E	-PPHPCGVQG------C-PAGYEC-KDWIG>P<NDGITQFDNILFAVLTVFQCITMEGWTTVL	315
CACNA1F	-DPSPCASSGSGR-A-CTLNQTECRGRWPG>P<NGGITNFDNFFFAMLTVFQCVTMEGWTDVL	336
CACNA1G	-------SSNTTC-VNWNQYYTNCSAGEHN>P<FKGAINFDNIGYAWIAIFQVITLEGWVDIM	360
CACNA1H	-QAEGVGAARNAC-INWNQYYNVCRSGDSN>P<HNGAINFDNIGYAWIAIFQVITLEGWVDIM	384
CACNA1I	-AGRQDLNASGLC-VNWNRYYNVCRTGSAN>P<HKGAINFDNIGYAWIVIFQVITLEGWVEIM	363
CACNA1S	-EPSPCARTGSGR-R-CTINGSECRGGWPG>P<NHGITHFDNFGFSMLTVYQCITMEGWTDVL	298
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P348A	c.1042C>G	Putative Benign		rs375386714	SIFT: deleterious Polyphen: probably damaging