Paralogue Annotation for SCN5A residue 149

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 149
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 149

No paralogue variants have been mapped to residue 149 for SCN5A.



SCN5APIRRAAVKILVHSLFNMLIMCTILTNCVFM>A<QH------D-PPPWT--KYVEYTFTA-IYT169
SCN1APLRKIAIKILVHSLFSMLIMCTILTNCVFM>T<MS------N-PPDWT--KNVEYTFTG-IYT166
SCN2APIRKLAIKILVHSLFNMLIMCTILTNCVFM>T<MS------N-PPDWT--KNVEYTFTG-IYT167
SCN3APVRKIAIKILVHSLFSMLIMCTILTNCVFM>T<LS------N-PPDWT--KNVEYTFTG-IYT166
SCN4AVVRRGAIKVLIHALFSMFIMITILTNCVFM>T<MS------D-PPPWS--KNVEYTFTG-IYT169
SCN7ACIRRTTIKVLVHPFFQLFILISVLIDCVFM>S<LT------N-LPKWR--PVLENTLLG-IYT156
SCN8ALIRRIAIKILIHSVFSMIIMCTILTNCVFM>T<FS------N-PPDWS--KNVEYTFTG-IYT170
SCN9APLRRISIKILVHSLFSMLIMCTILTNCIFM>T<MN------N-PPDWT--KNVEYTFTG-IYT164
SCN10ALIRRTAIKVSVHSWFSLFITVTILVNCVCM>T<RT------D-LPE-----KIEYVFTV-IYT165
SCN11ASIRSLAIRVSVHSLFSMFIIGTVIINCVFM>A<TGPA-K--NSNSNNT--DIAECVFTG-IYI171
CACNA1AVVRKYAKKITEWPPFEYMILATIIANCIVL>A<LEQHLPDDDKTPMSERLDDTEPYFIG-IFC145
CACNA1BVVRKYAKRITEWPPFEYMILATIIANCIVL>A<LEQHLPDGDKTPMSERLDDTEPYFIG-IFC142
CACNA1CPIRRACISIVEWKPFEIIILLTIFANCVAL>A<IYIPFPEDDSNATNSNLERVEYLFLI-IFT171
CACNA1DPIRRACISIVEWKPFDIFILLAIFANCVAL>A<IYIPFPEDDSNSTNHNLEKVEYAFLI-IFT173
CACNA1EIVRKYAKKLIDWPPFEYMILATIIANCIVL>A<LEQHLPEDDKTPMSRRLEKTEPYFIG-IFC136
CACNA1FPLRRSCISIVEWKPFDILILLTIFANCVAL>G<VYIPFPEDDSNTANHNLEQVEYVFLV-IFT139
CACNA1GRPRSWCLRTVCNPWFERISMLVILLNCVTL>G<MFRPCEDIACDSQRCRILQAFDDFIFAFFA129
CACNA1HRPRSWCLRLVCNPWFEHVSMLVIMLNCVTL>G<MFRPCEDVECGSERCNILEAFDAFIFAFFA148
CACNA1ISPRNWCIKMVCNPWFECVSMLVILLNCVTL>G<MYQPCDDMDCLSDRCKILQVFDDFIFIFFA127
CACNA1SPLRKACISIVEWKPFETIILLTIFANCVAL>A<VYLPMPEDDNNSLNLGLEKLEYFFLI-VFS98
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A149Vc.446C>T Other Cardiac PhenotypeSIFT:
Polyphen:
ReportsOther Cardiac Phenotype Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775