No paralogue variants have been mapped to residue 2379 for RYR1.
RYR1 | NANVVVRLLIRKPECFGPALRGEGGSGLLA>A<IEEAIRISEDPARDGPGIRRDRRREHFGEE | 2409 |
RYR2 | NANVVVRLLIRRPECFGPALRGEGGNGLLA>A<MEEAIKIAEDPSRDGPSPNS-GSSKTLDTE | 2375 |
RYR3 | NASVVVKLLIRRPECFGPALRGEGGNGLLA>A<MQGAIKISENPALDLPSQGY-KREVSTGDD | 2272 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Ala2379Asp | c.7136C>A | Unknown | SIFT: Polyphen: |