Paralogue Annotation for RYR2 residue 1220

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1220
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1220

No paralogue variants have been mapped to residue 1220 for RYR2.

RYR2	LAFKDFDVGDGFIPVCSLGVAQVGRMNFGK>D<VSTLKYFTICGLQEGYEPFAVNTNRDITMW	1250
RYR1	TAFREIEIGDGFLPVCSLGPGQVGHLNLGQ>D<VSSLRFFAICGLQEGFEPFAINMQRPVTTW	1236
RYR3	LAFADYEIENGFVPICCLGLSQIGRMNLGT>D<ASTFKFYTMCGLQEGFEPFAVNMNRDVAMW	1236
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D1220Y	c.3658G>T	Putative Benign			SIFT: Polyphen: possibly damaging