Paralogue Annotation for RYR2 residue 1005

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1005
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1005

No paralogue variants have been mapped to residue 1005 for RYR2.

RYR2	GYKPAPMDLSFIKLTPSQEAMVDKLAENAH>N<VWARDRIRQGWTYGIQQDVKNRRNPRLVPY	1035
RYR1	GYKPAPLDLSHVRLTPAQTTLVDRLAENGH>N<VWARDRVGQGWSYSAVQDIPARRNPRLVPY	1023
RYR3	GYKPAPLDLSDVKLLPPQEILVDKLAENAH>N<VWAKDRIKQGWTYGIQQDLKNKRNPRLVPY	1022
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N1005D	c.3013A>G	Putative Benign			SIFT: Polyphen: