No paralogue variants have been mapped to residue 4838 for RYR1.
RYR1 | FFFAAHLLDIAMGVKTLRTILSSVTHNGKQ>L<VMTVGLLAVVVYLYTVVAFNFFRKFYNKSE | 4868 |
RYR2 | FFFAAHLLDIAMGFKTLRTILSSVTHNGKQ>L<VLTVGLLAVVVYLYTVVAFNFFRKFYNKSE | 4797 |
RYR3 | FFFAAHLLDIAMGFKTLRTILSSVTHNGKQ>L<VLTVGLLAVVVYLYTVVAFNFFRKFYNKSE | 4700 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L4838V | c.14512C>G | Other Myopathy | rs193922878 | SIFT: Polyphen: | |
Reports | Other Myopathy | Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients. Jpn J Pharmacol. 2002 88(2):159-66. 11928716 |