No paralogue variants have been mapped to residue 2157 for RYR1.
RYR1 | QYDGLGELLRALPRAYTISPSSVEDTMSLL>E<CLGQIRSLLIVQMGPQEENLMIQSIGNIMN | 2187 |
RYR2 | QYDGIGGLVRALPKTYTINGVSVEDTINLL>A<SLGQIRSLLSVRMGKEEEKLMIRGLGDIMN | 2151 |
RYR3 | QYDSIGELLQALRKTYTISHTSVSDTINLL>A<ALGQIRSLLSVRMGKEEELLMINGLGDIMN | 2049 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2157K | c.6469G>A | Putative Benign | SIFT: tolerated Polyphen: benign | ||
p.E2157V | c.6470A>T | Putative Benign | SIFT: Polyphen: |