No paralogue variants have been mapped to residue 2060 for RYR1.
RYR1 | LDFHQDLLAHCGIQLDGEEEEP--EEETTL>G<SRLMSLLEKVRLVKKKEEKPEEERSAEESK | 2090 |
RYR2 | LDFHEDLMTHCGIELDEDG-SLDGNSDLTI>R<GRLLSLVEKVTYLKKKQA--EKPVESDSKK | 2054 |
RYR3 | YDFHEDLLLHCGVPLEEEE-EE--EEDTSW>T<GKLCALVYKIKGPPKPEK--EQPTEEEERC | 1952 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G2060C | c.6178G>T | Benign | rs35364374 | SIFT: Polyphen: benign |