No paralogue variants have been mapped to residue 2817 for RYR1.
RYR1 | THPMLRPYKTFSEKDKEIYRWPIKESLKAM>I<AWEWTIEKAREGEEEK--TEKKKTRKISQS | 2845 |
RYR2 | VQPLMKPYKLLSEKEKEIYRWPIKESLKTM>L<AWGWRIERTREGDSMALYNRTRRISQTSQV | 2813 |
RYR3 | THPLIRPFKTLTEKEKEIYRWPARESLKTM>L<AVGWTVERTKEGEALVQQRENEKLRSVSQA | 2710 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I2817T | c.8450T>C | Putative Benign | rs369194674 | SIFT: deleterious Polyphen: benign |