No paralogue variants have been mapped to residue 387 for RYR2.
RYR2 | GDSVCYIQHVDTGLWLTYQSVDVKSVRMGS>I<QRKAIMHHEGHMDDGISLSRSQHEESRTAR | 417 |
RYR1 | GESLCFVQHVASGLWLTYAAPDPKALRLGV>L<KKKAMLHQEGHMDDALSLTRCQQEESQAAR | 401 |
RYR3 | GDSVCFVQHIASGLWVTYKAQDAKTSRLGP>L<KRKVILHQEGHMDDGLTLQRCQREESQAAR | 409 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I387L | c.1159A>C | Putative Benign | SIFT: Polyphen: |