No paralogue variants have been mapped to residue 2101 for RYR1.
RYR1 | RLVKKKEEKPEEERSAEESKPRSLQELVSH>M<VVRWAQEDFVQSPELVRAMFSLLHRQYDGL | 2131 |
RYR2 | TYLKKKQA--EKPVESDSKKSSTLQQLISE>T<MVRWAQESVIEDPELVRAMFVLLHRQYDGI | 2095 |
RYR3 | KGPPKPEK--EQPTEEEERCPTTLKELISQ>T<MICWAQEDQIQDSELVRMMFNLLRRQYDSI | 1993 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M2101V | c.6301A>G | Putative Benign | SIFT: Polyphen: | ||
p.M2101K | c.6302T>A | Putative Benign | SIFT: Polyphen: |