Paralogue Annotation for RYR1 residue 1207

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1207
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1207

No paralogue variants have been mapped to residue 1207 for RYR1.

RYR1	AFREIEIGDGFLPVCSLGPGQVGHLNLGQD>V<SSLRFFAICGLQEGFEPFAINMQRPVTTWF	1237
RYR2	AFKDFDVGDGFIPVCSLGVAQVGRMNFGKD>V<STLKYFTICGLQEGYEPFAVNTNRDITMWL	1251
RYR3	AFADYEIENGFVPICCLGLSQIGRMNLGTD>A<STFKFYTMCGLQEGFEPFAVNMNRDVAMWF	1237
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1207M	c.3619G>A	Putative Benign			SIFT: Polyphen: