No paralogue variants have been mapped to residue 482 for RYR1.
RYR1 | EPPSEDLQHEEKQSKLRSLRNRQSLFQEEG>M<LSMVLNCIDRLNVYTTAAHFAEFAGEEAAE | 512 |
RYR2 | HPPDEHLEHEDKQNRLRALKNRQNLFQEEG>M<INLVLECIDRLHVYSSAAHFADVAGREAGE | 524 |
RYR3 | QPPEEEMRHEDKQNKLRSLKNRQNLFKEEG>M<LALVLNCIDRLNVYNSVAHFAGIAREESGM | 511 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M482L | c.1444A>T | Putative Benign | rs372809720 | SIFT: deleterious Polyphen: possibly damaging |