Paralogue Annotation for RYR1 residue 1969

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1969
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1969

No paralogue variants have been mapped to residue 1969 for RYR1.

RYR1	MCHLLEYFCDQELQHRVESLAAFAERYVDK>L<QANQRSRYGLLIKAFSMTAAETARRTREFR	1999
RYR2	MCLLLQYLCDCQVRHRIEAIVAFSDDFVAK>L<QDNQRFRYNEVMQALNMSAALTARKTKEFR	1966
RYR3	MCELLSYLCDCELQHRVEAIVAFGDIYVSK>L<QANQKFRYNELMQALNMSAALTARKTKEFR	1867
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L1969I	c.5905C>A	Putative Benign			SIFT: Polyphen: