Paralogue Annotation for SCN5A residue 332

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 332
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 332

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	A342V	Dravet syndrome C ?	Medium	3	21248271, 24168886
SCN1A	A342S	Dravet syndrome	Medium	3	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	SLDLYLSD-PENYLLKNGTSDVLLCGNSSD>A<G-T-C-PEGYRCLKAGENPDHGYTSFDSFA	359
SCN1A	DWKSYIQD-SRYHYFLEGFLDALLCGNSSD>A<G-Q-C-PEGYMCVKAGRNPNYGYTSFDTFS	369
SCN2A	NWDEYIED-KSHFYFLEGQNDALLCGNSSD>A<G-Q-C-PEGYICVKAGRNPNYGYTSFDTFS	371
SCN3A	NWKDYIGD-DSHFYVLDGQKDPLLCGNGSD>A<G-Q-C-PEGYICVKAGRNPNYGYTSFDTFS	370
SCN4A	DWDAYISD-EGNFYFLEGSNDALLCGNSSD>A<G-H-C-PEGYECIKTGRNPNYGYTSYDTFS	393
SCN7A	-NPYYIRE-TENFYYLEGERYALLCGNRTD>A<G-Q-C-PEGYVCVKAGINPDQGFTNFDSFG	340
SCN8A	DWEEYINN-KTNFYTVPGMLEPLLCGNSSD>A<G-Q-C-PEGYQCMKAGRNPNYGYTSFDTFS	357
SCN9A	SEEDF----RKYFYYLEGSKDALLCGFSTD>S<G-Q-C-PEGYTCVKIGRNPDYGYTSFDTFS	348
SCN10A	--S-SHRK-PDIYINKRGTSDPLLCGNGSD>S<G-H-C-PDGYICLKTSDNPDFNYTSFDSFA	343
SCN11A	-PE---AY-DHCFEKKENSPEFKMCGIWMG>N<S-A-C-SIQYECKHTKINPDYNYTNFDNFG	346
CACNA1A	-----------------E--SPAPCGTEEP>A<-RT-C-PNGTKCQPYWEGPNNGITQFDNIL	305
CACNA1B	-----------------V--GDFPCGKEAP>A<-RL-C-EGDTECREYWPGPNFGITNFDNIL	301
CACNA1C	-----------------D--DPSPCALETG>H<GRQ-CQN-GTVCKPGWDGPKHGITNFDNFA	350
CACNA1D	-----------------E--DPAPCAFSGN>G<R-Q-CTANGTECRSGWVGPNGGITNFDNFA	351
CACNA1E	-----------------D--PPHPCGVQG->-<----C-PAGYEC-KDWIGPNDGITQFDNIL	296
CACNA1F	-----------------E--DPSPCASSGS>G<R-A-CTLNQTECRGRWPGPNGGITNFDNFF	317
CACNA1G	GGGGPPCG-LDYEAYNS---------SSNT>T<C-VNWNQYYTNCSAGEHNPFKGAINFDNIG	341
CACNA1H	--LRMPCT-LGWEAYTQP--QAEGVGAARN>A<C-INWNQYYNVCRSGDSNPHNGAINFDNIG	365
CACNA1I	--QGRECCLSKDDVYDFG--AGRQDLNASG>L<C-VNWNRYYNVCRTGSANPHKGAINFDNIG	344
CACNA1S	-----------------E--EPSPCARTGS>G<R-R-CTINGSECRGGWPGPNHGITHFDNFG	279
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A332T	c.994G>A	Putative Benign			SIFT: Polyphen: