Home > Gene Browser > AMPD3

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

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
170
VUS
2,651
Likely benign
2,673
Benign
0

Patient phenotypes

Proportions of phenotypes among 170 patients carrying pathogenic or likely pathogenic variants on AMPD3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
30.6%
Abnormality of the nervous system
30.6%
Abnormality of the musculoskeletal system
13.5%
Abnormality of head or neck
12.9%
Abnormality of the ear
11.2%
Growth abnormality
10%
Abnormality of the genitourinary system
8.8%
Abnormality of the eye
8.2%
Abnormality of blood and blood-forming tissues
4.7%
Abnormality of the digestive system
4.7%
Abnormality of limbs
3.5%
Abnormality of the integument
3.5%
Abnormality of the immune system
2.9%
Neoplasm
2.4%
Abnormality of the endocrine system
1.8%
Abnormality of the respiratory system
1.2%
Constitutional symptom
1.2%
Abnormality of prenatal development or birth
0.6%
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%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes