Paralogue Annotation for RYR2 residue 1942

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1942
Reference Amino Acid: F - Phenylalanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1942

No paralogue variants have been mapped to residue 1942 for RYR2.

RYR2	YLCDCQVRHRIEAIVAFSDDFVAKLQDNQR>F<RYNEVMQALNMSAALTARKTKEFRSPPQEQ	1972
RYR1	YFCDQELQHRVESLAAFAERYVDKLQANQR>S<RYGLLIKAFSMTAAETARRTREFRSPPQEQ	2005
RYR3	YLCDCELQHRVEAIVAFGDIYVSKLQANQK>F<RYNELMQALNMSAALTARKTKEFRSPPQEQ	1873
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F1942L	c.5824T>C	Putative Benign		rs368669045	SIFT: tolerated Polyphen: possibly damaging
p.F1942C	c.5825T>G	Putative Benign			SIFT: Polyphen: