No paralogue variants have been mapped to residue 2141 for RYR1.
RYR1 | VQSPELVRAMFSLLHRQYDGLGELLRALPR>A<YTISPSSVEDTMSLLECLGQIRSLLIVQMG | 2171 |
RYR2 | IEDPELVRAMFVLLHRQYDGIGGLVRALPK>T<YTINGVSVEDTINLLASLGQIRSLLSVRMG | 2135 |
RYR3 | IQDSELVRMMFNLLRRQYDSIGELLQALRK>T<YTISHTSVSDTINLLAALGQIRSLLSVRMG | 2033 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2141V | c.6422C>T | Putative Benign | rs201293931 | SIFT: Polyphen: benign |