Paralogue Annotation for SCN5A residue 307

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 307
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 307

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AY317HDravet syndromeHigh4 25459968

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---------VEADGLVWESLDL>Y<LSD-PENYLLKNGTSDVLLCGNSSDAG-T-334
SCN1A------IN---------ETVFEF---DWKS>Y<IQD-SRYHYFLEGFLDALLCGNSSDAG-Q-344
SCN2A------FN---------RTVSIF---NWDE>Y<IED-KSHFYFLEGQNDALLCGNSSDAG-Q-346
SCN3A------VN---------VTMSTF---NWKD>Y<IGD-DSHFYVLDGQKDPLLCGNGSDAG-Q-345
SCN4AGNDSWYANDTWNSHASWATNDTF---DWDA>Y<ISD-EGNFYFLEGSNDALLCGNSSDAG-H-368
SCN7A-------N---------RTG-------NPY>Y<IRE-TENFYYLEGERYALLCGNRTDAG-Q-315
SCN8A------LE---------NGTKGF---DWEE>Y<INN-KTNFYTVPGMLEPLLCGNSSDAG-Q-332
SCN9A------ES---------IMNTLE---SEED>F<----RKYFYYLEGSKDALLCGFSTDSG-Q-323
SCN10A---------------------Y------S->S<HRK-PDIYINKRGTSDPLLCGNGSDSG-H-318
SCN11A---------------------------PE->-<-AY-DHCFEKKENSPEFKMCGIWMGNS-A-321
CACNA1A------------------------------>-<------------E--SPAPCGTEEPA-RT-280
CACNA1B------------------------------>-<------------V--GDFPCGKEAPA-RL-276
CACNA1C------------------------------>-<------------D--DPSPCALETGHGRQ-325
CACNA1D------------------------------>-<------------E--DPAPCAFSGNGR-Q-325
CACNA1E------------------------------>-<------------D--PPHPCGVQG------272
CACNA1F------------------------------>-<------------E--DPSPCASSGSGR-A-291
CACNA1GENG-------MRSCRSVPTLRGD---GGGG>P<PCG-LDYEAYNS---------SSNTTC-VN315
CACNA1HDNG-------MQKCSHIPGRRE------LR>M<PCT-LGWEAYTQP--QAEGVGAARNAC-IN339
CACNA1IDNG-------IMGCHEIPPLKE------QG>R<ECCLSKDDVYDFG--AGRQDLNASGLC-VN318
CACNA1S------------------------------>-<------------E--EPSPCARTGSGR-R-253
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 307 for SCN5A.