Paralogue Annotation for RYR1 residue 207

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 207
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 207

No paralogue variants have been mapped to residue 207 for RYR1.

RYR1	RYLHLSTASGELQVDASFMQTLWNMNPICS>R<--CEEGFVTGGHVLRLFHGHMDECLTISPA	235
RYR2	RYLHLSYGNGSLHVDAAFQQTLWSVAPISS>G<SEAAQGYLIGGDVLRLLHGHMDECLTVPSG	250
RYR3	RYLHLSVSNGNIQVDASFMQTLWNVHPTCS>G<SSIEEGYLLGGHVVRLFHGH-DECLTIPST	239
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R207C	c.619C>T	Putative Benign			SIFT: Polyphen:
p.R207L	c.620G>T	Putative Benign			SIFT: Polyphen:
p.R207H	c.620G>A	Putative Benign			SIFT: Polyphen: