Paralogue Annotation for RYR1 residue 4404

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4404
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4404

No paralogue variants have been mapped to residue 4404 for RYR1.

RYR1	VTVTELLAGMPDPTSDEVHGEQPAGPGGDA>D<GEGASEGAGDAAEGAGDEEEAVHEAGPGGA	4434
RYR2	IKVAELLANMPDPTQDEVRGDGEEGERKP->L<EAALPSEDLTDLKELTEESDLLSD-----I	4379
RYR3	IRVTKILGDMPDPTQFGIHDDTMEAERAEV>M<EPGITTELVHFIKGEKGDTDIMSD-----L	4281
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D4404N	c.13210G>A	Benign			SIFT: Polyphen: