No paralogue variants have been mapped to residue 258 for RYR1.
RYR1 | CLTISPAD-SDDQRRLVYYEGGAVCTHARS>L<WRLEPLRISWSGSHLRWGQPLRVRHVTTGQ | 288 |
RYR2 | CLTVPSGEHGEEQRRTVHYEGGAVSVHARS>L<WRLETLRVAWSGSHIRWGQPFRLRHVTTGK | 304 |
RYR3 | CLTIPSTDQNDSQHRRIFYEAGGAGTRARS>L<WRVEPLRISWSGSNIRWGQAFRLRHLTTGH | 293 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L258F | c.772C>T | Putative Benign | SIFT: Polyphen: |