No paralogue variants have been mapped to residue 2354 for RYR2.
RYR2 | LIRRPECFGPALRGEGGNGLLAAMEEAIKI>A<EDPSRDGPSPNS-GSSKTLDTEEEEDDTIH | 2383 |
RYR1 | LIRKPECFGPALRGEGGSGLLAAIEEAIRI>S<EDPARDGPGIRRDRRREHFGEEPPEENRVH | 2417 |
RYR3 | LIRRPECFGPALRGEGGNGLLAAMQGAIKI>S<ENPALDLPSQGY-KREVSTGDDEEEEEIVH | 2280 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2354T | c.7060G>A | Putative Benign | SIFT: Polyphen: | ||
p.A2354S | c.7060G>T | Putative Benign | SIFT: Polyphen: |