No paralogue variants have been mapped to residue 119 for SCN5A.
SCN5A | K-TFI-VLNKGKTIFRFSATNALYVLSPFH>P<IRRAAVKILVHSLFNMLIMCTILTNCVFMA | 149 |
SCN1A | K-TFI-VLNKGKAIFRFSATSALYILTPFN>P<LRKIAIKILVHSLFSMLIMCTILTNCVFMT | 146 |
SCN2A | K-TFI-VLNKGKAISRFSATPALYILTPFN>P<IRKLAIKILVHSLFNMLIMCTILTNCVFMT | 147 |
SCN3A | K-TFI-VMNKGKAIFRFSATSALYILTPLN>P<VRKIAIKILVHSLFSMLIMCTILTNCVFMT | 146 |
SCN4A | K-TFI-VLNKGKAIFRFSATPALYLLSPFS>V<VRRGAIKVLIHALFSMFIMITILTNCVFMT | 149 |
SCN7A | KNTFI-VLNKNRTIFRFNAASILCTLSPFN>C<IRRTTIKVLVHPFFQLFILISVLIDCVFMS | 136 |
SCN8A | K-TFV-VLNRGKTLFRFSATPALYILSPFN>L<IRRIAIKILIHSVFSMIIMCTILTNCVFMT | 150 |
SCN9A | K-TFI-VLNKGKTIFRFNATPALYMLSPFS>P<LRRISIKILVHSLFSMLIMCTILTNCIFMT | 144 |
SCN10A | R-TFM-VLNKGRTISRFSATRALWLFSPFN>L<IRRTAIKVSVHSWFSLFITVTILVNCVCMT | 148 |
SCN11A | K-TFM-VLNRKRTIYRFSAKHALFIFGPFN>S<IRSLAIRVSVHSLFSMFIIGTVIINCVFMA | 147 |
CACNA1A | RTMAL-YNPIPVRQNCLTVNRSLFLFSEDN>V<VRKYAKKITEWPPFEYMILATIIANCIVLA | 116 |
CACNA1B | RTMAL-YNPIPVKQNCFTVNRSLFVFSEDN>V<VRKYAKRITEWPPFEYMILATIIANCIVLA | 113 |
CACNA1C | RQQYG-KPKKQGSTTATRPPRALLCLTLKN>P<IRRACISIVEWKPFEIIILLTIFANCVALA | 142 |
CACNA1D | RQQYA-KSKKQGNSSNSRPARALFCLSLNN>P<IRRACISIVEWKPFDIFILLAIFANCVALA | 144 |
CACNA1E | RTMAL-YNPIPVRQNCFTVNRSLFIFGEDN>I<VRKYAKKLIDWPPFEYMILATIIANCIVLA | 107 |
CACNA1F | RNQHS-KHKTVAVASAQRSPRALFCLTLAN>P<LRRSCISIVEWKPFDILILLTIFANCVALG | 110 |
CACNA1G | DPG-SADSEAEGLPYPALAPVVFFYLSQDS>R<PRSWCLRTVCNPWFERISMLVILLNCVTLG | 99 |
CACNA1H | GAELG-ADEEQRVPYPALAATVFFCLGQTT>R<PRSWCLRLVCNPWFEHVSMLVIMLNCVTLG | 118 |
CACNA1I | EPL-D-G-ADPHVPHPDLAPIAFFCLRQTT>S<PRNWCIKMVCNPWFECVSMLVILLNCVTLG | 97 |
CACNA1S | GLRKK-QPKKPVPEILPRPPRALFCLTLEN>P<LRKACISIVEWKPFETIILLTIFANCVALA | 69 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P119S | c.355C>T | Putative Benign | rs368058564 | SIFT: tolerated Polyphen: probably damaging | |
p.P119L | c.356C>T | Putative Benign | SIFT: Polyphen: |