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PYCR1

Synonyms
ARCL2B, ARCL3B, P5C, P5CR, PIG45, PP222, PRO3, PYCR
External resources
Summary
This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants.

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
24
Likely pathogenic
9
VUS
4,193
Likely benign
4,419
Benign
0

Patient phenotypes

Proportions of phenotypes among 26 patients carrying pathogenic or likely pathogenic variants on PYCR1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.3%
Abnormality of head or neck
26.9%
Abnormality of the musculoskeletal system
26.9%
Abnormality of the eye
23.1%
Abnormality of the cardiovascular system
19.2%
Abnormality of the integument
19.2%
Abnormality of the immune system
15.4%
Growth abnormality
15.4%
Abnormality of blood and blood-forming tissues
11.5%
Abnormality of the ear
11.5%
Abnormality of the digestive system
7.7%
Abnormality of the endocrine system
7.7%
Abnormality of the respiratory system
7.7%
Abnormality of limbs
3.8%
Abnormality of prenatal development or birth
3.8%
Abnormality of the genitourinary system
3.8%
Abnormality of the voice
3.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Neoplasm
0%

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