No paralogue variants have been mapped to residue 3806 for RYR1.
RYR1 | EMVLQMISACKGETGAMVSSTLKLGISILN>G<GNAEVQQKMLDYLKDKKEVGFFQSIQALMQ | 3836 |
RYR2 | EMVLQTISASKGETGPMVAATLKLGIAILN>G<GNSTVQQKMLDYLKEKKDVGFFQSLAGLMQ | 3798 |
RYR3 | EMVLQMISASKGEMSPMVVETLKLGIAILN>G<GNAGVQQKMLDYLKEKKDAGFFQSLSGLMQ | 3688 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G3806R | c.11416G>A | Other Myopathy | rs111565359 | SIFT: Polyphen: | |
Reports | Other Myopathy | Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat. 2009 30(4):590-8. 19191329 |