Paralogue Annotation for RYR1 residue 2000

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2000
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2000

No paralogue variants have been mapped to residue 2000 for RYR1.

RYR1	QANQRSRYGLLIKAFSMTAAETARRTREFR>S<PPQEQINMLLQFKDGTDEEDCPLPEEIRQD	2030
RYR2	QDNQRFRYNEVMQALNMSAALTARKTKEFR>S<PPQEQINMLLNFKD--DKSECPCPEEIRDQ	1995
RYR3	QANQKFRYNELMQALNMSAALTARKTKEFR>S<PPQEQINMLLNFQL--GE-NCPCPEEIREE	1895
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S2000F	c.5999C>T	Putative Benign			SIFT: Polyphen: