No paralogue variants have been mapped to residue 4083 for RYR2.
RYR2 | ESHKHYTQSETEFLLSCAETDENETLDYEE>F<VKRFHEPAKDIGFNVAVLLTNLSEHMPNDT | 4113 |
RYR1 | DSQKQFSGPEIQFLLSCSEADENEMINCEE>F<ANRFQEPARDIGFNVAVLLTNLSEHVPHDP | 4157 |
RYR3 | EGQKQYTQSEIDFLLSCAEADENDMFNYVD>F<VDRFHEPAKDIGFNVAVLLTNLSEHMPNDS | 4009 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F4083L | c.12249C>A | Putative Benign | rs371599450 | SIFT: deleterious Polyphen: probably damaging |