No paralogue variants have been mapped to residue 4817 for RYR1.
RYR1 | DNSFLYLGWYMVMSLLGHYNNFFFAAHLLD>I<AMGVKTLRTILSSVTHNGKQLVMTVGLLAV | 4847 |
RYR2 | DNSFLYLAWYMTMSVLGHYNNFFFAAHLLD>I<AMGFKTLRTILSSVTHNGKQLVLTVGLLAV | 4776 |
RYR3 | DNSFLYLAWYTTMSVLGHYNNFFFAAHLLD>I<AMGFKTLRTILSSVTHNGKQLVLTVGLLAV | 4679 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I4817F | c.14449A>T | Other Myopathy | rs143988412 | SIFT: Polyphen: | |
Reports | Other Myopathy | Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943 | |||
p.I4817V | c.14449A>G | Putative Benign | rs143988412 | SIFT: Polyphen: |