No paralogue variants have been mapped to residue 2385 for RYR1.
RYR1 | RLLIRKPECFGPALRGEGGSGLLAAIEEAI>R<ISEDPARDGPGIRRDRRREHFGEEPPEENR | 2415 |
RYR2 | RLLIRRPECFGPALRGEGGNGLLAAMEEAI>K<IAEDPSRDGPSPNS-GSSKTLDTEEEEDDT | 2381 |
RYR3 | KLLIRRPECFGPALRGEGGNGLLAAMQGAI>K<ISENPALDLPSQGY-KREVSTGDDEEEEEI | 2278 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2385C | c.7153C>T | Putative Benign | rs202111332 | SIFT: Polyphen: possibly damaging | |
p.R2385H | c.7154G>A | Putative Benign | SIFT: Polyphen: |