No paralogue variants have been mapped to residue 4329 for RYR1.
RYR1 | AAAGRALRGLSYRSLRRRVRRLRRLTAREA>A<TAVAALLWAAVTRAGAAGAGAAAGALGLLW | 4359 |
RYR2 | YNILTLMRMLSLKSLKKQMKKVKKMTVKDM>V<TAFFSSYWSIFMTLLHFVASVFRGFFRIIC | 4310 |
RYR3 | RNVTDFLKRATLKNLRKQYRNVKKMTAKEL>V<KVLFSFFWMLFVGLFQLLFTILGGIFQILW | 4211 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A4329D | c.12986C>A | Other Myopathy | rs118192129 | SIFT: Polyphen: | |
Reports | Other Myopathy | Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain. 2007 130(Pt 8):2024-36. 17483490 | |||
Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 |