No paralogue variants have been mapped to residue 4972 for RYR1.
RYR1 | GELRDQQEQVKEDMETKCFICGIGSDYFDT>T<PHGFETHTLEEHNLANYMFFLMYLINKDET | 5002 |
RYR2 | GELRDQQEQVKEDMETKCFICGIGNDYFDT>V<PHGFETHTLQEHNLANYLFFLMYLINKDET | 4931 |
RYR3 | GELRDQQEQVREDMETKCFICGIGNDYFDT>T<PHGFETHTLQEHNLANYLFFLMYLINKDET | 4834 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T4972I | c.14915C>T | Putative Benign | rs199866740 | SIFT: Polyphen: | |
p.T4972S | c.14914A>T | Putative Benign | SIFT: Polyphen: |