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PAM

Synonyms
PAL, PHM
External resources
Summary
This gene encodes a multifunctional protein. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme includes two domains with distinct catalytic activities, a peptidylglycine alpha-hydroxylating monooxygenase (PHM) domain and a peptidyl-alpha-hydroxyglycine alpha-amidating lyase (PAL) domain. These catalytic domains work sequentially to catalyze the conversion of neuroendocrine peptides to active alpha-amidated products. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed.

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
20
Likely pathogenic
0
VUS
2,483
Likely benign
608
Benign
0

Patient phenotypes

Proportions of phenotypes among 19 patients carring pathogenic or likely pathogenic variants on PAM gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
36.8%
Abnormality of the nervous system
36.8%
Abnormality of the musculoskeletal system
31.6%
Abnormality of head or neck
26.3%
Abnormality of limbs
21.1%
Abnormality of the cardiovascular system
15.8%
Abnormality of the genitourinary system
15.8%
Abnormality of the digestive system
10.5%
Abnormality of the ear
10.5%
Growth abnormality
10.5%
Abnormality of blood and blood-forming tissues
5.3%
Abnormality of prenatal development or birth
5.3%
Abnormality of the endocrine system
5.3%
Abnormality of the integument
5.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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