No paralogue variants have been mapped to residue 3718 for RYR2.
RYR2 | ADIMAKSCHDEED-D--DGEEE-VKSFEEK>E<MEKQKLLYQQARLHDRGAAEMVLQTISASK | 3748 |
RYR1 | ADIMAKSCHLEEGGENGEAEEEVEVSFEEK>Q<MEKQRLLYQQARLHTRGAAEMVLQMISACK | 3786 |
RYR3 | SSMMAKSCQSGED-E--EEDEDKEKTFEEK>E<MEKQKTLYQQARLHERGAAEMVLQMISASK | 3638 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Glu3718Lys | c.11152G>A | Unknown | SIFT: Polyphen: |