No paralogue variants have been mapped to residue 1974 for RYR1.
RYR1 | EYFCDQELQHRVESLAAFAERYVDKLQANQ>R<SRYGLLIKAFSMTAAETARRTREFRSPPQE | 2004 |
RYR2 | QYLCDCQVRHRIEAIVAFSDDFVAKLQDNQ>R<FRYNEVMQALNMSAALTARKTKEFRSPPQE | 1971 |
RYR3 | SYLCDCELQHRVEAIVAFGDIYVSKLQANQ>K<FRYNELMQALNMSAALTARKTKEFRSPPQE | 1872 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1974W | c.5920C>T | Putative Benign | SIFT: Polyphen: | ||
p.R1974Q | c.5921G>A | Putative Benign | SIFT: Polyphen: |