Paralogue Annotation for RYR2 residue 3120

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3120
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3120

No paralogue variants have been mapped to residue 3120 for RYR2.

RYR2	VTQIINYTTVALLPMLSSLFEHIGQHQFGE>D<LILEDVQVSCYRILTSLYALGTSKSIYVER	3150
RYR1	VGQNLTYTTVALLPVLTTLFQHIAQHQFGD>D<VILDDVQVSCYRTLCSIYSLGTTKNTYVEK	3185
RYR3	VSQNINYTTVALLPILTSIFEHVTQHQFGM>D<LLLGDVQISCYHILCSLYSLGTGKNIYVER	3046
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Asp3120His	c.9358G>C	Unknown			SIFT: Polyphen: