No paralogue variants have been mapped to residue 3083 for RYR2.
RYR2 | VKSALRAFLDNAAEDLEKTMENLKQGQFTH>T<RNQPKGVTQIINYTTVALLPMLSSLFEHIG | 3113 |
RYR1 | VKAGLRSFFESASEDIEKMVENLRLGKVSQ>A<RTQVKGVGQNLTYTTVALLPVLTTLFQHIA | 3148 |
RYR3 | VKAGLRAFFENAAEDLEKTSENLKLGKFTH>S<RTQIKGVSQNINYTTVALLPILTSIFEHVT | 3009 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T3083N | c.9248C>A | Putative Benign | SIFT: tolerated Polyphen: benign |