No paralogue variants have been mapped to residue 2372 for RYR2.
RYR2 | LLAAMEEAIKIAEDPSRDGPSPNS-GSSKT>L<DTEEEEDDTIHMGNAIMTFYSALIDLLGRC | 2402 |
RYR1 | LLAAIEEAIRISEDPARDGPGIRRDRRREH>F<GEEPPEENRVHLGHAIMSFYAALIDLLGRC | 2436 |
RYR3 | LLAAMQGAIKISENPALDLPSQGY-KREVS>T<GDDEEEEEIVHMGNAIMSFYSALIDLLGRC | 2299 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L2372I | c.7114C>A | Putative Benign | SIFT: Polyphen: | ||
p.L2372F | c.7114C>T | Putative Benign | SIFT: Polyphen: |