Paralogue Annotation for SCN5A residue 310

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 310
Reference Amino Acid: D - Aspartate
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 310

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN2A	D322N	Neonatal-infantile seizures	Medium	3	19783390, 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	---GS---------VEADGLVWESLDLYLS>D<-PENYLLKNGTSDVLLCGNSSDAG-T-C-P	336
SCN1A	---IN---------ETVFEF---DWKSYIQ>D<-SRYHYFLEGFLDALLCGNSSDAG-Q-C-P	346
SCN2A	---FN---------RTVSIF---NWDEYIE>D<-KSHFYFLEGQNDALLCGNSSDAG-Q-C-P	348
SCN3A	---VN---------VTMSTF---NWKDYIG>D<-DSHFYVLDGQKDPLLCGNGSDAG-Q-C-P	347
SCN4A	SWYANDTWNSHASWATNDTF---DWDAYIS>D<-EGNFYFLEGSNDALLCGNSSDAG-H-C-P	370
SCN7A	----N---------RTG-------NPYYIR>E<-TENFYYLEGERYALLCGNRTDAG-Q-C-P	317
SCN8A	---LE---------NGTKGF---DWEEYIN>N<-KTNFYTVPGMLEPLLCGNSSDAG-Q-C-P	334
SCN9A	---ES---------IMNTLE---SEEDF-->-<-RKYFYYLEGSKDALLCGFSTDSG-Q-C-P	325
SCN10A	------------------Y------S-SHR>K<-PDIYINKRGTSDPLLCGNGSDSG-H-C-P	320
SCN11A	------------------------PE---A>Y<-DHCFEKKENSPEFKMCGIWMGNS-A-C-S	323
CACNA1A	------------------------------>-<---------E--SPAPCGTEEPA-RT-C-P	282
CACNA1B	------------------------------>-<---------V--GDFPCGKEAPA-RL-C-E	278
CACNA1C	------------------------------>-<---------D--DPSPCALETGHGRQ-CQN	328
CACNA1D	------------------------------>-<---------E--DPAPCAFSGNGR-Q-CTA	328
CACNA1E	------------------------------>-<---------D--PPHPCGVQG------C-P	274
CACNA1F	------------------------------>-<---------E--DPSPCASSGSGR-A-CTL	294
CACNA1G	-------MRSCRSVPTLRGD---GGGGPPC>G<-LDYEAYNS---------SSNTTC-VNWNQ	318
CACNA1H	-------MQKCSHIPGRRE------LRMPC>T<-LGWEAYTQP--QAEGVGAARNAC-INWNQ	342
CACNA1I	-------IMGCHEIPPLKE------QGREC>C<LSKDDVYDFG--AGRQDLNASGLC-VNWNR	321
CACNA1S	------------------------------>-<---------E--EPSPCARTGSGR-R-CTI	256
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 310 for SCN5A.