Paralogue Annotation for RYR1 residue 1035

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1035
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1035

No paralogue variants have been mapped to residue 1035 for RYR1.

RYR1	SYSAVQDIPARRNPRLVPYRLLDEATKRSN>R<DSLCQAVRTLLGYGYNIEPPDQEP-SQVEN	1064
RYR2	TYGIQQDVKNRRNPRLVPYTLLDDRTKKSN>K<DSLREAVRTLLGYGYNLEAPDQDHAARAEV	1077
RYR3	TYGIQQDLKNKRNPRLVPYALLDERTKKSN>R<DSLREAVRTFVGYGYNIEPSDQEL-ADSAV	1063
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1035W	c.3103C>T	Putative Benign		rs368384162	SIFT: deleterious Polyphen: probably damaging
p.R1035Q	c.3104G>A	Putative Benign			SIFT: Polyphen: