Paralogue Annotation for RYR1 residue 2035

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2035
Reference Amino Acid: H - Histidine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2035

No paralogue variants have been mapped to residue 2035 for RYR1.

RYR1	QINMLLQFKDGTDEEDCPLPEEIRQDLLDF>H<QDLLAHCGIQLDGEEEEP--EEETTLGSRL	2063
RYR2	QINMLLNFKD--DKSECPCPEEIRDQLLDF>H<EDLMTHCGIELDEDG-SLDGNSDLTIRGRL	2029
RYR3	QINMLLNFQL--GE-NCPCPEEIREELYDF>H<EDLLLHCGVPLEEEE-EE--EEDTSWTGKL	1927
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H2035L	c.6104A>T	Other Myopathy		rs367543056	SIFT: Polyphen:
Reports		Other Myopathy		Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat. 2010 31(7):E1544-50. 20583297
		Unknown		20301436