Paralogue Annotation for RYR2 residue 1502

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1502
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1502

No paralogue variants have been mapped to residue 1502 for RYR2.

RYR2	GKVHESIKRSNCYMVCAGESMSPGQ-G-RN>N<NGLEIGCVVDAASGLLTFIANGKELSTYYQ	1532
RYR1	GNVHSSLKCSNCYMVWGGDFVSPGQQGRIS>H<TDLVIGCLVDLATGLMTFTANGKESNTFFQ	1540
RYR3	GRVHESVKRSNCYMVWGGDIVASSQRSNRS>N<VDLEIGCLVDLAMGMLSFSANGKELGTCYQ	1436
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N1502D	c.4504A>G	Putative Benign			SIFT: Polyphen: