No paralogue variants have been mapped to residue 3350 for RYR1.
RYR1 | LRIIVNNLGIDEASWMKRLAVFAQPIVSRA>R<PELLQSHFIPTIGRLRKRAGKVVSEEEQLR | 3380 |
RYR2 | LKIIYNNLGIDEGAWMKRLAVFSQPIINKV>K<PQLLKTHFLPLMEKLKKKAATVVSEEDHLK | 3341 |
RYR3 | LKIINNNLGIDEASWMKRIAVYAQPIISKA>R<PDLLRSHFIPTLEKLKKKAVKTVQEEEQLK | 3237 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3350L | c.10049G>T | Putative Benign | SIFT: tolerated Polyphen: benign | ||
p.R3350Q | c.10049G>A | Putative Benign | SIFT: Polyphen: |