Paralogue Annotation for RYR1 residue 1042

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1042
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1042

No paralogue variants have been mapped to residue 1042 for RYR1.

RYR1	IPARRNPRLVPYRLLDEATKRSNRDSLCQA>V<RTLLGYGYNIEPPDQEP-SQVEN-QSRCDR	1070
RYR2	VKNRRNPRLVPYTLLDDRTKKSNKDSLREA>V<RTLLGYGYNLEAPDQDHAARAEVCSGTGER	1084
RYR3	LKNKRNPRLVPYALLDERTKKSNRDSLREA>V<RTFVGYGYNIEPSDQEL-ADSAVEKVSIDK	1070
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1042M	c.3124G>A	Putative Benign			SIFT: deleterious Polyphen: probably damaging
p.V1042L	c.3124G>T	Putative Benign			SIFT: Polyphen: