Paralogue Annotation for RYR1 residue 4960

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4960
Reference Amino Acid: F - Phenylalanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4960

No paralogue variants have been mapped to residue 4960 for RYR1.

RYR1	LAIIQGLIIDAFGELRDQQEQVKEDMETKC>F<ICGIGSDYFDTTPHGFETHTLEEHNLANYM	4990
RYR2	LAIIQGLIIDAFGELRDQQEQVKEDMETKC>F<ICGIGNDYFDTVPHGFETHTLQEHNLANYL	4919
RYR3	LAIIQGLIIDAFGELRDQQEQVREDMETKC>F<ICGIGNDYFDTTPHGFETHTLQEHNLANYL	4822
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F4960Y	c.14879T>A	Other Myopathy		rs193922898	SIFT: Polyphen:
Reports		Other Myopathy		Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
p.F4960C	c.14879T>G	Putative Benign			SIFT: Polyphen: