No paralogue variants have been mapped to residue 120 for SCN5A.
SCN5A | -TFI-VLNKGKTIFRFSATNALYVLSPFHP>I<RRAAVKILVHSLFNMLIMCTILTNCVFMAQ | 150 |
SCN1A | -TFI-VLNKGKAIFRFSATSALYILTPFNP>L<RKIAIKILVHSLFSMLIMCTILTNCVFMTM | 147 |
SCN2A | -TFI-VLNKGKAISRFSATPALYILTPFNP>I<RKLAIKILVHSLFNMLIMCTILTNCVFMTM | 148 |
SCN3A | -TFI-VMNKGKAIFRFSATSALYILTPLNP>V<RKIAIKILVHSLFSMLIMCTILTNCVFMTL | 147 |
SCN4A | -TFI-VLNKGKAIFRFSATPALYLLSPFSV>V<RRGAIKVLIHALFSMFIMITILTNCVFMTM | 150 |
SCN7A | NTFI-VLNKNRTIFRFNAASILCTLSPFNC>I<RRTTIKVLVHPFFQLFILISVLIDCVFMSL | 137 |
SCN8A | -TFV-VLNRGKTLFRFSATPALYILSPFNL>I<RRIAIKILIHSVFSMIIMCTILTNCVFMTF | 151 |
SCN9A | -TFI-VLNKGKTIFRFNATPALYMLSPFSP>L<RRISIKILVHSLFSMLIMCTILTNCIFMTM | 145 |
SCN10A | -TFM-VLNKGRTISRFSATRALWLFSPFNL>I<RRTAIKVSVHSWFSLFITVTILVNCVCMTR | 149 |
SCN11A | -TFM-VLNRKRTIYRFSAKHALFIFGPFNS>I<RSLAIRVSVHSLFSMFIIGTVIINCVFMAT | 148 |
CACNA1A | TMAL-YNPIPVRQNCLTVNRSLFLFSEDNV>V<RKYAKKITEWPPFEYMILATIIANCIVLAL | 117 |
CACNA1B | TMAL-YNPIPVKQNCFTVNRSLFVFSEDNV>V<RKYAKRITEWPPFEYMILATIIANCIVLAL | 114 |
CACNA1C | QQYG-KPKKQGSTTATRPPRALLCLTLKNP>I<RRACISIVEWKPFEIIILLTIFANCVALAI | 143 |
CACNA1D | QQYA-KSKKQGNSSNSRPARALFCLSLNNP>I<RRACISIVEWKPFDIFILLAIFANCVALAI | 145 |
CACNA1E | TMAL-YNPIPVRQNCFTVNRSLFIFGEDNI>V<RKYAKKLIDWPPFEYMILATIIANCIVLAL | 108 |
CACNA1F | NQHS-KHKTVAVASAQRSPRALFCLTLANP>L<RRSCISIVEWKPFDILILLTIFANCVALGV | 111 |
CACNA1G | PG-SADSEAEGLPYPALAPVVFFYLSQDSR>P<RSWCLRTVCNPWFERISMLVILLNCVTLGM | 100 |
CACNA1H | AELG-ADEEQRVPYPALAATVFFCLGQTTR>P<RSWCLRLVCNPWFEHVSMLVIMLNCVTLGM | 119 |
CACNA1I | PL-D-G-ADPHVPHPDLAPIAFFCLRQTTS>P<RNWCIKMVCNPWFECVSMLVILLNCVTLGM | 98 |
CACNA1S | LRKK-QPKKPVPEILPRPPRALFCLTLENP>L<RKACISIVEWKPFETIILLTIFANCVALAV | 70 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Ile120Thr | c.359T>C | Unknown | SIFT: Polyphen: |