Paralogue Annotation for RYR1 residue 205

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 205
Reference Amino Acid: C - Cysteine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 205

No paralogue variants have been mapped to residue 205 for RYR1.

RYR1	SERYLHLSTASGELQVDASFMQTLWNMNPI>C<SR--CEEGFVTGGHVLRLFHGHMDECLTIS	233
RYR2	SERYLHLSYGNGSLHVDAAFQQTLWSVAPI>S<SGSEAAQGYLIGGDVLRLLHGHMDECLTVP	248
RYR3	SERYLHLSVSNGNIQVDASFMQTLWNVHPT>C<SGSSIEEGYLLGGHVVRLFHGH-DECLTIP	237
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.C205S	c.614G>C	Putative Benign		rs201834803	SIFT: Polyphen: benign
p.C205R	c.613T>C	Putative Benign			SIFT: Polyphen:
p.C205Y	c.614G>A	Putative Benign			SIFT: Polyphen: