No paralogue variants have been mapped to residue 2042 for RYR1.
RYR1 | FKDGTDEEDCPLPEEIRQDLLDFHQDLLAH>C<GIQLDGEEEEP--EEETTLGSRLMSLLEKV | 2070 |
RYR2 | FKD--DKSECPCPEEIRDQLLDFHEDLMTH>C<GIELDEDG-SLDGNSDLTIRGRLLSLVEKV | 2036 |
RYR3 | FQL--GE-NCPCPEEIREELYDFHEDLLLH>C<GVPLEEEE-EE--EEDTSWTGKLCALVYKI | 1934 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C2042Y | c.6125G>A | Putative Benign | SIFT: Polyphen: |