No paralogue variants have been mapped to residue 3119 for RYR1.
RYR1 | KAGLRSFFESASEDIEKMVENLRLGKVSQA>R<TQVKGVGQNLTYTTVALLPVLTTLFQHIAQ | 3149 |
RYR2 | KSALRAFLDNAAEDLEKTMENLKQGQFTHT>R<NQPKGVTQIINYTTVALLPMLSSLFEHIGQ | 3114 |
RYR3 | KAGLRAFFENAAEDLEKTSENLKLGKFTHS>R<TQIKGVSQNINYTTVALLPILTSIFEHVTQ | 3010 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3119H | c.9356G>A | Other Myopathy | rs193922833 | SIFT: Polyphen: | |
Reports | Other Myopathy | Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943 | |||
p.R3119C | c.9355C>T | Putative Benign | rs61739911 | SIFT: Polyphen: possibly damaging | |
p.R3119P | c.9356G>C | Putative Benign | SIFT: Polyphen: |