No paralogue variants have been mapped to residue 2119 for RYR2.
RYR2 | HRQYDGIGGLVRALPKTYTINGVSVEDTIN>L<LASLGQIRSLLSVRMGKEEEKLMIRGLGDI | 2149 |
RYR1 | HRQYDGLGELLRALPRAYTISPSSVEDTMS>L<LECLGQIRSLLIVQMGPQEENLMIQSIGNI | 2185 |
RYR3 | RRQYDSIGELLQALRKTYTISHTSVSDTIN>L<LAALGQIRSLLSVRMGKEEELLMINGLGDI | 2047 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L2119P | c.6356T>C | Putative Benign | SIFT: Polyphen: |