No paralogue variants have been mapped to residue 1894 for RYR2.
RYR2 | ---VDDAK-LQGAGEE--EAKGGKRPKEGL>L<QMKLPEPVKLQMCLLLQYLCDCQVRHRIEA | 1924 |
RYR1 | EETAQEKEDEEKEEEEAAEGEKEEGLEEGL>L<QMKLPESVKLQMCHLLEYFCDQELQHRVES | 1957 |
RYR3 | ---VEEKA-VEAG-----EKAGKEAPVKGL>L<QTRLPESVKLQMCELLSYLCDCELQHRVEA | 1825 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1894I | c.5680C>A | Putative Benign | SIFT: deleterious Polyphen: possibly damaging | ||
Reports | Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | |||
p.Leu1894Phe | c.5680C>T | Unknown | SIFT: Polyphen: |