No paralogue variants have been mapped to residue 4443 for RYR2.
RYR2 | KFQEQ--KA---KEEEKEEKEETKSEPEKA>E<GEDGEKEEKAKEDKGKQKLR--------QL | 4465 |
RYR1 | KRKLGVDGVEEELPPEPEPEPEPELEPEKA>D<AENGEKEEVPEPTPEPPKKQ---------A | 4526 |
RYR3 | KRKA---QA---AEMKAANEAEGKVESEKA>D<MEDGEKEDKDKEEEQAEYLWTEVTKKKKRR | 4376 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4443D | c.13329G>T | Putative Benign | rs77959278 | SIFT: tolerated Polyphen: possibly damaging |