Paralogue Annotation for RYR1 residue 4014

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4014
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4014

No paralogue variants have been mapped to residue 4014 for RYR1.

RYR1	LWDAVVGFLHVFAHMMMKLAQDSSQIELLK>E<LLDLQKDMVVMLLSLLEGNVVNGMIARQMV	4044
RYR2	LWDAVVGFLHVFAHMQMKLSQDSSQIELLK>E<LMDLQKDMVVMLLSMLEGNVVNGTIGKQMV	4000
RYR3	LWDAVVGFLHVFANMQMKLSQDSSQIELLK>E<LLDLLQDMVVMLLSLLEGNVVNGTIGKQMV	3896
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4014D	c.12042G>C	Putative Benign			SIFT: Polyphen: