No paralogue variants have been mapped to residue 3122 for RYR1.
RYR1 | LRSFFESASEDIEKMVENLRLGKVSQARTQ>V<KGVGQNLTYTTVALLPVLTTLFQHIAQHQF | 3152 |
RYR2 | LRAFLDNAAEDLEKTMENLKQGQFTHTRNQ>P<KGVTQIINYTTVALLPMLSSLFEHIGQHQF | 3117 |
RYR3 | LRAFFENAAEDLEKTSENLKLGKFTHSRTQ>I<KGVSQNINYTTVALLPILTSIFEHVTQHQF | 3013 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V3122L | c.9364G>C | Putative Benign | SIFT: Polyphen: |