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MRPL58

Synonyms
DS-1, DS1, ICT1, MRP-L58
External resources
Summary
The protein encoded by this gene is a peptidyl-tRNA hydrolase and a vital component of the large mitochondrial ribosome. The encoded protein serves as a ribosome release factor for this ribosome, which translates mitochondrial genes. This protein may be responsible for degrading prematurely-terminated polypeptides and for reusing stalled ribosomes. Two transcript variants encoding different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
641
Likely benign
300
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on MRPL58 gene.

Phenotype class
Patients in 3billion (%)

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