No paralogue variants have been mapped to residue 4127 for RYR2.
RYR2 | NVAVLLTNLSEHMPNDTRLQTFLELAESVL>N<YFQPFLGRIEIMGSAKRIERVYFEISESSR | 4157 |
RYR1 | NVAVLLTNLSEHVPHDPRLHNFLELAESIL>E<YFRPYLGRIEIMGASRRIERIYFEISETNR | 4201 |
RYR3 | NVAVLLTNLSEHMPNDSRLKCLLDPAESVL>N<YFEPYLGRIEIMGGAKKIERVYFEISESSR | 4053 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Asn4127His | c.12379A>C | Unknown | SIFT: Polyphen: |