No paralogue variants have been mapped to residue 3453 for RYR1.
RYR1 | WLTEPNPSAEELFRMVGEIFIYWSKSHNFK>R<EEQNFVVQNEINNMSFLTADNKSKMAKAGD | 3483 |
RYR2 | WLKEPNPEAEELFRMVAEVFIYWSKSHNFK>R<EEQNFVVQNEINNMSFLITDTKSKMSKAA- | 3443 |
RYR3 | WLKSPDADSDQLFRMVAEVFILWCKSHNFK>R<EEQNFVIQNEINNLAFLTGDSKSKMSKAMQ | 3340 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3453H | c.10358G>A | Putative Benign | rs187802601 | SIFT: Polyphen: benign |