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PSMA1

Synonyms
HC2, HEL-S-275, NU, PROS30
External resources
Summary
The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

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
337
Likely pathogenic
5
VUS
7,794
Likely benign
150
Benign
0

Patient phenotypes

Proportions of phenotypes among 342 patients carring pathogenic or likely pathogenic variants on PSMA1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
32.7%
Abnormality of the musculoskeletal system
22.8%
Abnormality of the cardiovascular system
19.3%
Abnormality of the ear
16.1%
Abnormality of head or neck
12.9%
Growth abnormality
9.4%
Abnormality of the eye
9.1%
Abnormality of blood and blood-forming tissues
8.2%
Abnormality of the genitourinary system
8.2%
Abnormality of the immune system
6.7%
Abnormality of limbs
4.4%
Abnormality of the digestive system
4.4%
Abnormality of the integument
3.8%
Abnormality of the endocrine system
2.9%
Neoplasm
2.6%
Abnormality of prenatal development or birth
1.8%
Abnormality of the respiratory system
1.2%
Abnormality of the breast
0.3%
Constitutional symptom
0.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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