No paralogue variants have been mapped to residue 2839 for RYR1.
RYR1 | ESLKAMIAWEWTIEKAREGEEEK--TEKKK>T<RKISQSAQTYDPREGYNPQPPDLSAVTLSR | 2869 |
RYR2 | ESLKTMLAWGWRIERTREGDSMALYNRTRR>I<SQTSQV--SVDAAHGYSPRAIDMSNVTLSR | 2835 |
RYR3 | ESLKTMLAVGWTVERTKEGEALVQQRENEK>L<RSVSQA--NQ--GNSYSPAPLDLSNVVLSR | 2730 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T2839M | c.8516C>T | Putative Benign | SIFT: Polyphen: | ||
p.T2839K | c.8516C>A | Putative Benign | SIFT: Polyphen: | ||
p.T2839R | c.8516C>G | Unknown | SIFT: Polyphen: benign |