No paralogue variants have been mapped to residue 1941 for RYR2.
RYR2 | QYLCDCQVRHRIEAIVAFSDDFVAKLQDNQ>R<FRYNEVMQALNMSAALTARKTKEFRSPPQE | 1971 |
RYR1 | EYFCDQELQHRVESLAAFAERYVDKLQANQ>R<SRYGLLIKAFSMTAAETARRTREFRSPPQE | 2004 |
RYR3 | SYLCDCELQHRVEAIVAFGDIYVSKLQANQ>K<FRYNELMQALNMSAALTARKTKEFRSPPQE | 1872 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1941H | c.5822G>A | Putative Benign | rs373600053 | SIFT: tolerated Polyphen: probably damaging | |
p.R1941C | c.5821C>T | Putative Benign | SIFT: Polyphen: | ||
p.R1941S | c.5821C>A | Putative Benign | SIFT: Polyphen: |