Paralogue Annotation for RYR2 residue 210

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 210
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 210

No paralogue variants have been mapped to residue 210 for RYR2.

RYR2	DLILVSVSSERYLHLSYGNGSLHVDAAFQQ>T<LWSVAPISSGSEAAQGYLIGGDVLRLLHGH	240
RYR1	DIILVSVSSERYLHLSTASGELQVDASFMQ>T<LWNMNPICSR--CEEGFVTGGHVLRLFHGH	225
RYR3	DLILVSVSSERYLHLSVSNGNIQVDASFMQ>T<LWNVHPTCSGSSIEEGYLLGGHVVRLFHGH	230
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T210I	c.629C>T	Putative Benign		rs371086868	SIFT: deleterious Polyphen: possibly damaging