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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

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
11
Likely pathogenic
0
VUS
1,615
Likely benign
1,490
Benign
13

Patient phenotypes

Proportions of phenotypes among 11 patients carring pathogenic or likely pathogenic variants on AGBL5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
72.7%
Abnormality of the musculoskeletal system
45.5%
Abnormality of head or neck
36.4%
Abnormality of the nervous system
36.4%
Abnormality of limbs
27.3%
Abnormality of the ear
27.3%
Abnormality of the cardiovascular system
9.1%
Abnormality of the respiratory system
9.1%
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 integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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