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AMPD3

Synonyms
-
External resources
Summary
This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described.

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
26
Likely pathogenic
111
VUS
1,823
Likely benign
1,719
Benign
1

Patient phenotypes

Proportions of phenotypes among 128 patients carring pathogenic or likely pathogenic variants on AMPD3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.2%
Abnormality of the cardiovascular system
18.8%
Abnormality of head or neck
18%
Abnormality of the musculoskeletal system
18%
Abnormality of the ear
15.6%
Growth abnormality
12.5%
Abnormality of the eye
10.9%
Abnormality of the genitourinary system
9.4%
Abnormality of blood and blood-forming tissues
6.3%
Abnormality of the digestive system
5.5%
Abnormality of the integument
5.5%
Abnormality of limbs
3.9%
Abnormality of the immune system
3.9%
Neoplasm
3.9%
Abnormality of the endocrine system
1.6%
Abnormality of the respiratory system
1.6%
Abnormality of prenatal development or birth
0.8%
Constitutional symptom
0.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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