No paralogue variants have been mapped to residue 2422 for RYR1.
RYR1 | RDGPGIRRDRRREHFGEEPPEENRVHLGHA>I<MSFYAALIDLLGRCAPEMHLIQAGKGEALR | 2452 |
RYR2 | RDGPSPNS-GSSKTLDTEEEEDDTIHMGNA>I<MTFYSALIDLLGRCAPEMHLIHAGKGEAIR | 2418 |
RYR3 | LDLPSQGY-KREVSTGDDEEEEEIVHMGNA>I<MSFYSALIDLLGRCAPEMHLIQTGKGEAIR | 2315 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I2422V | c.7264A>G | Putative Benign | SIFT: Polyphen: |