No paralogue variants have been mapped to residue 4428 for RYR2.
RYR2 | MSN-PVPMPE-V-QEKFQEQ--KA---KEE>E<KEEKEETKSEPEKAEGEDGEKEEKAKEDKG | 4458 |
RYR1 | TPAEPPTPEGSP-ILKRKLGVDGVEEELPP>E<PEPEPEPELEPEKADAENGEKEEVPEPTPE | 4520 |
RYR3 | IGKDEPPTLESTVQKKRKA---QA---AEM>K<AANEAEGKVESEKADMEDGEKEDKDKEEEQ | 4361 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4428D | c.13284A>C | Putative Benign | rs370131928 | SIFT: tolerated Polyphen: benign |