No paralogue variants have been mapped to residue 950 for RYR2.
RYR2 | EFSKLPEQERNYNLQMSLETLKTLLALGCH>V<GISDEHAEDKVKKMKLPKNYQLTSGYKPAP | 980 |
RYR1 | DFHSLPEPERNYNLQMSGETLKTLLALGCH>V<GMADEKAEDNLKKTKLPKTYMMSNGYKPAP | 968 |
RYR3 | EFSKLPETEKNYNLQMSTETLKTLLALGCH>I<AHVNPAAEEDLKKVKLPKNYMMSNGYKPAP | 967 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Val950Leu | c.2848G>T | Unknown | SIFT: Polyphen: |