No paralogue variants have been mapped to residue 514 for RYR1.
RYR1 | SMVLNCIDRLNVYTTAAHFAEFAGEEAAES>W<KEIVNLLYELLASLIRGNRSNCALFSTNLD | 544 |
RYR2 | NLVLECIDRLHVYSSAAHFADVAGREAGES>W<KSILNSLYELLAALIRGNRKNCAQFSGSLD | 556 |
RYR3 | ALVLNCIDRLNVYNSVAHFAGIAREESGMA>W<KEILNLLYKLLAALIRGNRNNCAQFSNNLD | 543 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.W514L | c.1541G>T | Putative Benign | SIFT: Polyphen: |