Paralogue Annotation for RYR1 residue 3119

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3119
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3119

No paralogue variants have been mapped to residue 3119 for RYR1.

RYR1	KAGLRSFFESASEDIEKMVENLRLGKVSQA>R<TQVKGVGQNLTYTTVALLPVLTTLFQHIAQ	3149
RYR2	KSALRAFLDNAAEDLEKTMENLKQGQFTHT>R<NQPKGVTQIINYTTVALLPMLSSLFEHIGQ	3114
RYR3	KAGLRAFFENAAEDLEKTSENLKLGKFTHS>R<TQIKGVSQNINYTTVALLPILTSIFEHVTQ	3010
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3119H	c.9356G>A	Other Myopathy		rs193922833	SIFT: Polyphen:
Reports		Other Myopathy		Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
p.R3119C	c.9355C>T	Putative Benign		rs61739911	SIFT: Polyphen: possibly damaging
p.R3119P	c.9356G>C	Putative Benign			SIFT: Polyphen: