No paralogue variants have been mapped to residue 2386 for RYR1.
RYR1 | LLIRKPECFGPALRGEGGSGLLAAIEEAIR>I<SEDPARDGPGIRRDRRREHFGEEPPEENRV | 2416 |
RYR2 | LLIRRPECFGPALRGEGGNGLLAAMEEAIK>I<AEDPSRDGPSPNS-GSSKTLDTEEEEDDTI | 2382 |
RYR3 | LLIRRPECFGPALRGEGGNGLLAAMQGAIK>I<SENPALDLPSQGY-KREVSTGDDEEEEEIV | 2279 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I2386N | c.7157T>A | Putative Benign | SIFT: Polyphen: |