No paralogue variants have been mapped to residue 123 for SCN5A.
SCN5A | I-VLNKGKTIFRFSATNALYVLSPFHPIRR>A<AVKILVHSLFNMLIMCTILTNCVFMAQH-- | 151 |
SCN1A | I-VLNKGKAIFRFSATSALYILTPFNPLRK>I<AIKILVHSLFSMLIMCTILTNCVFMTMS-- | 148 |
SCN2A | I-VLNKGKAISRFSATPALYILTPFNPIRK>L<AIKILVHSLFNMLIMCTILTNCVFMTMS-- | 149 |
SCN3A | I-VMNKGKAIFRFSATSALYILTPLNPVRK>I<AIKILVHSLFSMLIMCTILTNCVFMTLS-- | 148 |
SCN4A | I-VLNKGKAIFRFSATPALYLLSPFSVVRR>G<AIKVLIHALFSMFIMITILTNCVFMTMS-- | 151 |
SCN7A | I-VLNKNRTIFRFNAASILCTLSPFNCIRR>T<TIKVLVHPFFQLFILISVLIDCVFMSLT-- | 138 |
SCN8A | V-VLNRGKTLFRFSATPALYILSPFNLIRR>I<AIKILIHSVFSMIIMCTILTNCVFMTFS-- | 152 |
SCN9A | I-VLNKGKTIFRFNATPALYMLSPFSPLRR>I<SIKILVHSLFSMLIMCTILTNCIFMTMN-- | 146 |
SCN10A | M-VLNKGRTISRFSATRALWLFSPFNLIRR>T<AIKVSVHSWFSLFITVTILVNCVCMTRT-- | 150 |
SCN11A | M-VLNRKRTIYRFSAKHALFIFGPFNSIRS>L<AIRVSVHSLFSMFIIGTVIINCVFMATGPA | 151 |
CACNA1A | L-YNPIPVRQNCLTVNRSLFLFSEDNVVRK>Y<AKKITEWPPFEYMILATIIANCIVLALEQH | 120 |
CACNA1B | L-YNPIPVKQNCFTVNRSLFVFSEDNVVRK>Y<AKRITEWPPFEYMILATIIANCIVLALEQH | 117 |
CACNA1C | G-KPKKQGSTTATRPPRALLCLTLKNPIRR>A<CISIVEWKPFEIIILLTIFANCVALAIYIP | 146 |
CACNA1D | A-KSKKQGNSSNSRPARALFCLSLNNPIRR>A<CISIVEWKPFDIFILLAIFANCVALAIYIP | 148 |
CACNA1E | L-YNPIPVRQNCFTVNRSLFIFGEDNIVRK>Y<AKKLIDWPPFEYMILATIIANCIVLALEQH | 111 |
CACNA1F | S-KHKTVAVASAQRSPRALFCLTLANPLRR>S<CISIVEWKPFDILILLTIFANCVALGVYIP | 114 |
CACNA1G | SADSEAEGLPYPALAPVVFFYLSQDSRPRS>W<CLRTVCNPWFERISMLVILLNCVTLGMFRP | 103 |
CACNA1H | G-ADEEQRVPYPALAATVFFCLGQTTRPRS>W<CLRLVCNPWFEHVSMLVIMLNCVTLGMFRP | 122 |
CACNA1I | D-G-ADPHVPHPDLAPIAFFCLRQTTSPRN>W<CIKMVCNPWFECVSMLVILLNCVTLGMYQP | 101 |
CACNA1S | K-QPKKPVPEILPRPPRALFCLTLENPLRK>A<CISIVEWKPFETIILLTIFANCVALAVYLP | 73 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A123V | c.368C>T | Putative Benign | SIFT: Polyphen: |