Paralogue Annotation for RYR1 residue 1678

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1678
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1678

No paralogue variants have been mapped to residue 1678 for RYR1.

RYR1	DILELSERLDLQRFHSHTLRLYRAVCALGN>N<RVAHALCSHVDQAQLLHALEDAHLPGPLRA	1708
RYR2	DILELTEQEELLKFHYHTLRLYSAVCALGN>H<RVAHALCSHVDEPQLLYAIENKYMPGLLRA	1700
RYR3	DILELCEQEDLMRFHYHTLRLYSAVCALGN>S<RVAYALCSHVDLSQLFYAIDNKYLPGLLRS	1604
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N1678S	c.5033A>G	Putative Benign			SIFT: Polyphen: