No paralogue variants have been mapped to residue 1994 for RYR1.
RYR1 | RYVDKLQANQRSRYGLLIKAFSMTAAETAR>R<TREFRSPPQEQINMLLQFKDGTDEEDCPLP | 2024 |
RYR2 | DFVAKLQDNQRFRYNEVMQALNMSAALTAR>K<TKEFRSPPQEQINMLLNFKD--DKSECPCP | 1989 |
RYR3 | IYVSKLQANQKFRYNELMQALNMSAALTAR>K<TKEFRSPPQEQINMLLNFQL--GE-NCPCP | 1889 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1994C | c.5980C>T | Putative Benign | rs369167120 | SIFT: deleterious Polyphen: possibly damaging | |
p.R1994H | c.5981G>A | Putative Benign | SIFT: deleterious Polyphen: benign |