Paralogue Annotation for RYR1 residue 3342

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3342
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3342

No paralogue variants have been mapped to residue 3342 for RYR1.

RYR1	LNSLLGNILRIIVNNLGIDEASWMKRLAVF>A<QPIVSRARPELLQSHFIPTIGRLRKRAGKV	3372
RYR2	MNTLLGNILKIIYNNLGIDEGAWMKRLAVF>S<QPIINKVKPQLLKTHFLPLMEKLKKKAATV	3333
RYR3	LSLILGNILKIINNNLGIDEASWMKRIAVY>A<QPIISKARPDLLRSHFIPTLEKLKKKAVKT	3229
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A3342V	c.10025C>T	Putative Benign		rs201501834	SIFT: Polyphen: benign
p.A3342T	c.10024G>A	Putative Benign			SIFT: Polyphen: