No paralogue variants have been mapped to residue 146 for SCN5A.
SCN5A | PFHPIRRAAVKILVHSLFNMLIMCTILTNC>V<FMAQH------D-PPPWT--KYVEYTFTA- | 166 |
SCN1A | PFNPLRKIAIKILVHSLFSMLIMCTILTNC>V<FMTMS------N-PPDWT--KNVEYTFTG- | 163 |
SCN2A | PFNPIRKLAIKILVHSLFNMLIMCTILTNC>V<FMTMS------N-PPDWT--KNVEYTFTG- | 164 |
SCN3A | PLNPVRKIAIKILVHSLFSMLIMCTILTNC>V<FMTLS------N-PPDWT--KNVEYTFTG- | 163 |
SCN4A | PFSVVRRGAIKVLIHALFSMFIMITILTNC>V<FMTMS------D-PPPWS--KNVEYTFTG- | 166 |
SCN7A | PFNCIRRTTIKVLVHPFFQLFILISVLIDC>V<FMSLT------N-LPKWR--PVLENTLLG- | 153 |
SCN8A | PFNLIRRIAIKILIHSVFSMIIMCTILTNC>V<FMTFS------N-PPDWS--KNVEYTFTG- | 167 |
SCN9A | PFSPLRRISIKILVHSLFSMLIMCTILTNC>I<FMTMN------N-PPDWT--KNVEYTFTG- | 161 |
SCN10A | PFNLIRRTAIKVSVHSWFSLFITVTILVNC>V<CMTRT------D-LPE-----KIEYVFTV- | 162 |
SCN11A | PFNSIRSLAIRVSVHSLFSMFIIGTVIINC>V<FMATGPA-K--NSNSNNT--DIAECVFTG- | 168 |
CACNA1A | EDNVVRKYAKKITEWPPFEYMILATIIANC>I<VLALEQHLPDDDKTPMSERLDDTEPYFIG- | 142 |
CACNA1B | EDNVVRKYAKRITEWPPFEYMILATIIANC>I<VLALEQHLPDGDKTPMSERLDDTEPYFIG- | 139 |
CACNA1C | LKNPIRRACISIVEWKPFEIIILLTIFANC>V<ALAIYIPFPEDDSNATNSNLERVEYLFLI- | 168 |
CACNA1D | LNNPIRRACISIVEWKPFDIFILLAIFANC>V<ALAIYIPFPEDDSNSTNHNLEKVEYAFLI- | 170 |
CACNA1E | EDNIVRKYAKKLIDWPPFEYMILATIIANC>I<VLALEQHLPEDDKTPMSRRLEKTEPYFIG- | 133 |
CACNA1F | LANPLRRSCISIVEWKPFDILILLTIFANC>V<ALGVYIPFPEDDSNTANHNLEQVEYVFLV- | 136 |
CACNA1G | QDSRPRSWCLRTVCNPWFERISMLVILLNC>V<TLGMFRPCEDIACDSQRCRILQAFDDFIFA | 126 |
CACNA1H | QTTRPRSWCLRLVCNPWFEHVSMLVIMLNC>V<TLGMFRPCEDVECGSERCNILEAFDAFIFA | 145 |
CACNA1I | QTTSPRNWCIKMVCNPWFECVSMLVILLNC>V<TLGMYQPCDDMDCLSDRCKILQVFDDFIFI | 124 |
CACNA1S | LENPLRKACISIVEWKPFETIILLTIFANC>V<ALAVYLPMPEDDNNSLNLGLEKLEYFFLI- | 95 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V146M | c.436G>A | Inherited Arrhythmia | BrS | rs199473061 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | 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 |