No paralogue variants have been mapped to residue 4405 for RYR2.
RYR2 | ----IFGLDLKREGGQYKLIPHNPNAGLSD>L<MSN-PVPMPE-V-QEKFQEQ--KA---KEE | 4427 |
RYR1 | GPGGADGAVAVTDGGPFRPEGAGGLGDMGD>T<TPAEPPTPEGSP-ILKRKLGVDGVEEELPP | 4489 |
RYR3 | ----LFGLHPKKEGS-LKHGPEVGLGDLSE>I<IGKDEPPTLESTVQKKRKA---QA---AEM | 4330 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L4405F | c.13213C>T | Putative Benign | SIFT: tolerated Polyphen: possibly damaging |