Paralogue Annotation for SCN5A residue 316

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 316
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 316

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN2A	F328V	Neonatal-infantile seizures	Medium	6	19783390, 19786696, 23195492, 25156649, 25525159

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	-------VEADGLVWESLDLYLSD-PENYL>L<KNGTSDVLLCGNSSDAG-T-C-PEGYRCLK	343
SCN1A	-------ETVFEF---DWKSYIQD-SRYHY>F<LEGFLDALLCGNSSDAG-Q-C-PEGYMCVK	353
SCN2A	-------RTVSIF---NWDEYIED-KSHFY>F<LEGQNDALLCGNSSDAG-Q-C-PEGYICVK	355
SCN3A	-------VTMSTF---NWKDYIGD-DSHFY>V<LDGQKDPLLCGNGSDAG-Q-C-PEGYICVK	354
SCN4A	WNSHASWATNDTF---DWDAYISD-EGNFY>F<LEGSNDALLCGNSSDAG-H-C-PEGYECIK	377
SCN7A	-------RTG-------NPYYIRE-TENFY>Y<LEGERYALLCGNRTDAG-Q-C-PEGYVCVK	324
SCN8A	-------NGTKGF---DWEEYINN-KTNFY>T<VPGMLEPLLCGNSSDAG-Q-C-PEGYQCMK	341
SCN9A	-------IMNTLE---SEEDF----RKYFY>Y<LEGSKDALLCGFSTDSG-Q-C-PEGYTCVK	332
SCN10A	-----------Y------S-SHRK-PDIYI>N<KRGTSDPLLCGNGSDSG-H-C-PDGYICLK	327
SCN11A	-----------------PE---AY-DHCFE>K<KENSPEFKMCGIWMGNS-A-C-SIQYECKH	330
CACNA1A	------------------------------>-<--E--SPAPCGTEEPA-RT-C-PNGTKCQP	289
CACNA1B	------------------------------>-<--V--GDFPCGKEAPA-RL-C-EGDTECRE	285
CACNA1C	------------------------------>-<--D--DPSPCALETGHGRQ-CQN-GTVCKP	334
CACNA1D	------------------------------>-<--E--DPAPCAFSGNGR-Q-CTANGTECRS	335
CACNA1E	------------------------------>-<--D--PPHPCGVQG------C-PAGYEC-K	280
CACNA1F	------------------------------>-<--E--DPSPCASSGSGR-A-CTLNQTECRG	301
CACNA1G	MRSCRSVPTLRGD---GGGGPPCG-LDYEA>Y<NS---------SSNTTC-VNWNQYYTNCSA	325
CACNA1H	MQKCSHIPGRRE------LRMPCT-LGWEA>Y<TQP--QAEGVGAARNAC-INWNQYYNVCRS	349
CACNA1I	IMGCHEIPPLKE------QGRECCLSKDDV>Y<DFG--AGRQDLNASGLC-VNWNRYYNVCRT	328
CACNA1S	------------------------------>-<--E--EPSPCARTGSGR-R-CTINGSECRG	263
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 316 for SCN5A.