No paralogue variants have been mapped to residue 730 for RYR2.
RYR2 | TEGYSPYPGGGEEWGGNGVGDDLFSYGFDG>L<HLWSGCIARTVSSPNQHLLRTDDVISCCLD | 760 |
RYR1 | TEGYTPYPGAGEGWGGNGVGDDLYSYGFDG>L<HLWTGHVARPVTSPGQHLLAPEDVISCCLD | 748 |
RYR3 | SSGYAPYPGGGEGWGGNGVGDDLYSYGFDG>L<HLWSGRIPRAVASINQHLLRSDDVVSCCLD | 747 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L730F | c.2188C>T | Putative Benign | SIFT: Polyphen: |