No paralogue variants have been mapped to residue 2418 for RYR1.
RYR1 | EDPARDGPGIRRDRRREHFGEEPPEENRVH>L<GHAIMSFYAALIDLLGRCAPEMHLIQAGKG | 2448 |
RYR2 | EDPSRDGPSPNS-GSSKTLDTEEEEDDTIH>M<GNAIMTFYSALIDLLGRCAPEMHLIHAGKG | 2414 |
RYR3 | ENPALDLPSQGY-KREVSTGDDEEEEEIVH>M<GNAIMSFYSALIDLLGRCAPEMHLIQTGKG | 2311 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L2418P | c.7253T>C | Putative Benign | SIFT: Polyphen: |