Paralogue Annotation for SCN5A residue 146

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 146
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 146

No paralogue variants have been mapped to residue 146 for SCN5A.



SCN5APFHPIRRAAVKILVHSLFNMLIMCTILTNC>V<FMAQH------D-PPPWT--KYVEYTFTA-166
SCN1APFNPLRKIAIKILVHSLFSMLIMCTILTNC>V<FMTMS------N-PPDWT--KNVEYTFTG-163
SCN2APFNPIRKLAIKILVHSLFNMLIMCTILTNC>V<FMTMS------N-PPDWT--KNVEYTFTG-164
SCN3APLNPVRKIAIKILVHSLFSMLIMCTILTNC>V<FMTLS------N-PPDWT--KNVEYTFTG-163
SCN4APFSVVRRGAIKVLIHALFSMFIMITILTNC>V<FMTMS------D-PPPWS--KNVEYTFTG-166
SCN7APFNCIRRTTIKVLVHPFFQLFILISVLIDC>V<FMSLT------N-LPKWR--PVLENTLLG-153
SCN8APFNLIRRIAIKILIHSVFSMIIMCTILTNC>V<FMTFS------N-PPDWS--KNVEYTFTG-167
SCN9APFSPLRRISIKILVHSLFSMLIMCTILTNC>I<FMTMN------N-PPDWT--KNVEYTFTG-161
SCN10APFNLIRRTAIKVSVHSWFSLFITVTILVNC>V<CMTRT------D-LPE-----KIEYVFTV-162
SCN11APFNSIRSLAIRVSVHSLFSMFIIGTVIINC>V<FMATGPA-K--NSNSNNT--DIAECVFTG-168
CACNA1AEDNVVRKYAKKITEWPPFEYMILATIIANC>I<VLALEQHLPDDDKTPMSERLDDTEPYFIG-142
CACNA1BEDNVVRKYAKRITEWPPFEYMILATIIANC>I<VLALEQHLPDGDKTPMSERLDDTEPYFIG-139
CACNA1CLKNPIRRACISIVEWKPFEIIILLTIFANC>V<ALAIYIPFPEDDSNATNSNLERVEYLFLI-168
CACNA1DLNNPIRRACISIVEWKPFDIFILLAIFANC>V<ALAIYIPFPEDDSNSTNHNLEKVEYAFLI-170
CACNA1EEDNIVRKYAKKLIDWPPFEYMILATIIANC>I<VLALEQHLPEDDKTPMSRRLEKTEPYFIG-133
CACNA1FLANPLRRSCISIVEWKPFDILILLTIFANC>V<ALGVYIPFPEDDSNTANHNLEQVEYVFLV-136
CACNA1GQDSRPRSWCLRTVCNPWFERISMLVILLNC>V<TLGMFRPCEDIACDSQRCRILQAFDDFIFA126
CACNA1HQTTRPRSWCLRLVCNPWFEHVSMLVIMLNC>V<TLGMFRPCEDVECGSERCNILEAFDAFIFA145
CACNA1IQTTSPRNWCIKMVCNPWFECVSMLVILLNC>V<TLGMYQPCDDMDCLSDRCKILQVFDDFIFI124
CACNA1SLENPLRKACISIVEWKPFETIILLTIFANC>V<ALAVYLPMPEDDNNSLNLGLEKLEYFFLI-95
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V146Mc.436G>A Inherited ArrhythmiaBrSrs199473061SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283