Paralogue Annotation for RYR1 residue 4994

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4994
Reference Amino Acid: M - Methionine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4994

No paralogue variants have been mapped to residue 4994 for RYR1.



RYR1IGSDYFDTTPHGFETHTLEEHNLANYMFFL>M<YLINKDETEHTGQESYVWKMYQERCWDFFP5024
RYR2IGNDYFDTVPHGFETHTLQEHNLANYLFFL>M<YLINKDETEHTGQESYVWKMYQERCWEFFP4953
RYR3IGNDYFDTTPHGFETHTLQEHNLANYLFFL>M<YLINKDETEHTGQESYVWKMYQERCWDFFP4856
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M4994Ic.14982G>A Putative BenignSIFT:
Polyphen:
p.Met4994Thrc.14981T>C UnknownSIFT:
Polyphen: