No paralogue variants have been mapped to residue 2174 for RYR1.
RYR1 | ISPSSVEDTMSLLECLGQIRSLLIVQMGPQ>E<ENLMIQSIGNIMNNKVFYQHPNLMRALGMH | 2204 |
RYR2 | INGVSVEDTINLLASLGQIRSLLSVRMGKE>E<EKLMIRGLGDIMNNKVFYQHPNLMRALGMH | 2168 |
RYR3 | ISHTSVSDTINLLAALGQIRSLLSVRMGKE>E<ELLMINGLGDIMNNKVFYQHPNLMRVLGMH | 2066 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2174A | c.6521A>C | Putative Benign | SIFT: Polyphen: |