Paralogue Annotation for RYR1 residue 3005

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3005
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3005

No paralogue variants have been mapped to residue 3005 for RYR1.



RYR1AHLEAVVSSGRVEKSPHEQEIKFFAKILLP>L<INQYFTNHCLYFLSTPAKVLGSGGHASNKE3035
RYR2LEFDGG-SRGKGEHFPYEQEIKFFAKVVLP>L<IDQYFKNHRLYFLSAASRPLCSGGHASNKE3000
RYR3AHLEAIVSSGKTEKSPRDQEIKFFAKVLLP>L<VDQYFTSHCLYFLSSPLKPLSSSGYASHKE2896
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L3005Sc.9014T>C Putative BenignSIFT: deleterious
Polyphen: benign