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AGBL5

Synonyms
CCP5, RP75
External resources
Summary
This gene encodes a metallocarboxypeptidase involved in protein deglutamylation and a member of the peptidase M14 family of proteins. The encoded protein has been described as a 'dual-functional' deglutamylase that can remove glutamate residues from both carboxyl termini and side chains of protein substrates. This deglutamylase activity may be important in antiviral immunity. Mutations in this gene are associated with retinitis pigmentosa.

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
17
Likely pathogenic
0
VUS
2,599
Likely benign
1,893
Benign
35

Patient phenotypes

Proportions of phenotypes among 17 patients carrying pathogenic or likely pathogenic variants on AGBL5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
47.1%
Abnormality of the musculoskeletal system
41.2%
Abnormality of head or neck
29.4%
Abnormality of limbs
29.4%
Abnormality of the ear
29.4%
Abnormality of the nervous system
23.5%
Abnormality of the cardiovascular system
11.8%
Abnormality of the integument
11.8%
Abnormality of the respiratory system
5.9%
Growth abnormality
5.9%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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