No paralogue variants have been mapped to residue 2388 for RYR1.
RYR1 | IRKPECFGPALRGEGGSGLLAAIEEAIRIS>E<DPARDGPGIRRDRRREHFGEEPPEENRVHL | 2418 |
RYR2 | IRRPECFGPALRGEGGNGLLAAMEEAIKIA>E<DPSRDGPSPNS-GSSKTLDTEEEEDDTIHM | 2384 |
RYR3 | IRRPECFGPALRGEGGNGLLAAMQGAIKIS>E<NPALDLPSQGY-KREVSTGDDEEEEEIVHM | 2281 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2388K | c.7162G>A | Putative Benign | SIFT: Polyphen: |