No paralogue variants have been mapped to residue 3129 for RYR1.
RYR1 | ASEDIEKMVENLRLGKVSQARTQVKGVGQN>L<TYTTVALLPVLTTLFQHIAQHQFGDDVILD | 3159 |
RYR2 | AAEDLEKTMENLKQGQFTHTRNQPKGVTQI>I<NYTTVALLPMLSSLFEHIGQHQFGEDLILE | 3124 |
RYR3 | AAEDLEKTSENLKLGKFTHSRTQIKGVSQN>I<NYTTVALLPILTSIFEHVTQHQFGMDLLLG | 3020 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L3129F | c.9385C>T | Putative Benign | rs143445685 | SIFT: Polyphen: benign | |
p.L3129V | c.9385C>G | Putative Benign | SIFT: Polyphen: |