No paralogue variants have been mapped to residue 511 for RYR1.
RYR1 | GMLSMVLNCIDRLNVYTTAAHFAEFAGEEA>A<ESWKEIVNLLYELLASLIRGNRSNCALFST | 541 |
RYR2 | GMINLVLECIDRLHVYSSAAHFADVAGREA>G<ESWKSILNSLYELLAALIRGNRKNCAQFSG | 553 |
RYR3 | GMLALVLNCIDRLNVYNSVAHFAGIAREES>G<MAWKEILNLLYKLLAALIRGNRNNCAQFSN | 540 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A511S | c.1531G>T | Putative Benign | SIFT: Polyphen: | ||
p.Ala511Asp | c.1532C>A | Unknown | SIFT: Polyphen: |