Paralogue Annotation for RYR1 residue 1592

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1592
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1592

No paralogue variants have been mapped to residue 1592 for RYR1.

RYR1	QFELGKQKNIMPLSAAMFQSERKNPAPQCP>P<RLEMQMLMPVSWSRMPNHFLQVETRRAGER	1622
RYR2	QFELGRIKNVMPLSAGLFKSEHKNPVPQCP>P<RLHVQFLSHVLWSRMPNQFLKVDVSRISER	1614
RYR3	QFELGKLKNAMPLSAAIFRSEEKNPVPQCP>P<RLDVQTIQPVLWSRMPNSFLKVETERVSER	1518
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1592L	c.4775C>T	Other Myopathy		rs193922777	SIFT: Polyphen:
Reports		Other Myopathy		Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943