No paralogue variants have been mapped to residue 4904 for RYR2.
RYR2 | RDQQEQVKEDMETKCFICGIGNDYFDTVPH>G<FETHTLQEHNLANYLFFLMYLINKDETEHT | 4934 |
RYR1 | RDQQEQVKEDMETKCFICGIGSDYFDTTPH>G<FETHTLEEHNLANYMFFLMYLINKDETEHT | 5005 |
RYR3 | RDQQEQVREDMETKCFICGIGNDYFDTTPH>G<FETHTLQEHNLANYLFFLMYLINKDETEHT | 4837 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G4904D | c.14711G>A | Other Cardiac Phenotype | SIFT: Polyphen: | ||
Reports | Other Cardiac Phenotype | Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders. Hum Genomics. 2016 10(1):24. doi: 10.1186/s40246-016-0080-4. 27353043 | |||
p.Gly4904Asp | c.14711G>A | Unknown | SIFT: Polyphen: |