No paralogue variants have been mapped to residue 2842 for RYR1.
RYR1 | KAMIAWEWTIEKAREGEEEK--TEKKKTRK>I<SQSAQTYDPREGYNPQPPDLSAVTLSRELQ | 2872 |
RYR2 | KTMLAWGWRIERTREGDSMALYNRTRRISQ>T<SQV--SVDAAHGYSPRAIDMSNVTLSRDLH | 2838 |
RYR3 | KTMLAVGWTVERTKEGEALVQQRENEKLRS>V<SQA--NQ--GNSYSPAPLDLSNVVLSRELQ | 2733 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I2842M | c.8526A>G | Putative Benign | SIFT: Polyphen: |