No paralogue variants have been mapped to residue 4000 for RYR1.
RYR1 | GPCTGNQQSLAHSRLWDAVVGFLHVFAHMM>M<KLAQDSSQIELLKELLDLQKDMVVMLLSLL | 4030 |
RYR2 | GPCTGNQQSLAHSRLWDAVVGFLHVFAHMQ>M<KLSQDSSQIELLKELMDLQKDMVVMLLSML | 3986 |
RYR3 | GPCIGNQQSLAHSRLWDAVVGFLHVFANMQ>M<KLSQDSSQIELLKELLDLLQDMVVMLLSLL | 3882 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M4000V | c.11998A>G | Putative Benign | SIFT: Polyphen: |