No paralogue variants have been mapped to residue 112 for SCN5A.
SCN5A | DPFYSTQK-TFI-VLNKGKTIFRFSATNAL>Y<VLSPFHPIRRAAVKILVHSLFNMLIMCTIL | 142 |
SCN1A | DPYYINKK-TFI-VLNKGKAIFRFSATSAL>Y<ILTPFNPLRKIAIKILVHSLFSMLIMCTIL | 139 |
SCN2A | DPYYINKK-TFI-VLNKGKAISRFSATPAL>Y<ILTPFNPIRKLAIKILVHSLFNMLIMCTIL | 140 |
SCN3A | DPYYINKK-TFI-VMNKGKAIFRFSATSAL>Y<ILTPLNPVRKIAIKILVHSLFSMLIMCTIL | 139 |
SCN4A | DPYYSNKK-TFI-VLNKGKAIFRFSATPAL>Y<LLSPFSVVRRGAIKVLIHALFSMFIMITIL | 142 |
SCN7A | DPYYYKKKNTFI-VLNKNRTIFRFNAASIL>C<TLSPFNCIRRTTIKVLVHPFFQLFILISVL | 129 |
SCN8A | DPYYLTQK-TFV-VLNRGKTLFRFSATPAL>Y<ILSPFNLIRRIAIKILIHSVFSMIIMCTIL | 143 |
SCN9A | DPYYADKK-TFI-VLNKGKTIFRFNATPAL>Y<MLSPFSPLRRISIKILVHSLFSMLIMCTIL | 137 |
SCN10A | DPFYSTHR-TFM-VLNKGRTISRFSATRAL>W<LFSPFNLIRRTAIKVSVHSWFSLFITVTIL | 141 |
SCN11A | DPFYRNHK-TFM-VLNRKRTIYRFSAKHAL>F<IFGPFNSIRSLAIRVSVHSLFSMFIIGTVI | 140 |
CACNA1A | QSMAQRARTMAL-YNPIPVRQNCLTVNRSL>F<LFSEDNVVRKYAKKITEWPPFEYMILATII | 109 |
CACNA1B | QSIAQRARTMAL-YNPIPVKQNCFTVNRSL>F<VFSEDNVVRKYAKRITEWPPFEYMILATII | 106 |
CACNA1C | SST-QRKRQQYG-KPKKQGSTTATRPPRAL>L<CLTLKNPIRRACISIVEWKPFEIIILLTIF | 135 |
CACNA1D | GSLSQRKRQQYA-KSKKQGNSSNSRPARAL>F<CLSLNNPIRRACISIVEWKPFDIFILLAIF | 137 |
CACNA1E | QTKAQRARTMAL-YNPIPVRQNCFTVNRSL>F<IFGEDNIVRKYAKKLIDWPPFEYMILATII | 100 |
CACNA1F | GLGTPKRRNQHS-KHKTVAVASAQRSPRAL>F<CLTLANPLRRSCISIVEWKPFDILILLTIF | 103 |
CACNA1G | -----EKDPG-SADSEAEGLPYPALAPVVF>F<YLSQDSRPRSWCLRTVCNPWFERISMLVIL | 92 |
CACNA1H | -----ERGAELG-ADEEQRVPYPALAATVF>F<CLGQTTRPRSWCLRLVCNPWFEHVSMLVIM | 111 |
CACNA1I | -----LEEPL-D-G-ADPHVPHPDLAPIAF>F<CLRQTTSPRNWCIKMVCNPWFECVSMLVIL | 90 |
CACNA1S | -SSPQDEGLRKK-QPKKPVPEILPRPPRAL>F<CLTLENPLRKACISIVEWKPFETIILLTIF | 62 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y112C | c.335A>G | Putative Benign | SIFT: Polyphen: |