No paralogue variants have been mapped to residue 4079 for RYR2.
RYR2 | HKAMESHKHYTQSETEFLLSCAETDENETL>D<YEEFVKRFHEPAKDIGFNVAVLLTNLSEHM | 4109 |
RYR1 | QKAMDSQKQFSGPEIQFLLSCSEADENEMI>N<CEEFANRFQEPARDIGFNVAVLLTNLSEHV | 4153 |
RYR3 | QKAMEGQKQYTQSEIDFLLSCAEADENDMF>N<YVDFVDRFHEPAKDIGFNVAVLLTNLSEHM | 4005 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D4079G | c.12236A>G | Putative Benign | SIFT: Polyphen: |