No paralogue variants have been mapped to residue 4258 for RYR2.
RYR2 | EQGPRMAFFSILTVRSALFALRYNILTLMR>M<LSLKSLKKQMKKVKKMTVKDMVTAFFSSYW | 4288 |
RYR1 | EGAAGLEGTAATAAAGATARVVAAAGRALR>G<LSYRSLRRRVRRLRRLTAREAATAVAALLW | 4337 |
RYR3 | EEEEDGSLEPASAFAMACASVKRNVTDFLK>R<ATLKNLRKQYRNVKKMTAKELVKVLFSFFW | 4189 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M4258K | c.12773T>A | Unknown | SIFT: Polyphen: | ||
Reports | Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 |