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RPN2

Synonyms
RIBIIR, RPN-II, RPNII, SWP1
External resources
Summary
This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein is similar in sequence to the yeast oligosaccharyl transferase subunit SWP1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

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
6
Likely pathogenic
656
VUS
18,482
Likely benign
1,424
Benign
0

Patient Phenotypes

Proportions of phenotypes among 661 patients carrying pathogenic or likely pathogenic variants on RPN2 gene are displayed below. The following symptoms were found in patients with a variant in RPN2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.1%
Abnormality of the musculoskeletal system
31.6%
Abnormality of the eye
28.7%
Abnormality of head or neck
22.2%
Abnormality of the cardiovascular system
19.5%
Growth abnormality
14.8%
Abnormality of the integument
14.1%
Abnormality of the ear
13.8%
Abnormality of limbs
13.2%
Abnormality of metabolism homeostasis
10.7%
Abnormality of the genitourinary system
9.4%
Abnormality of the digestive system
7.7%
Abnormality of the immune system
7.3%
Abnormality of blood and blood forming tissues
4.7%
Abnormality of the endocrine system
4.1%
Abnormality of the respiratory system
4.1%
Abnormality of prenatal development or birth
2.9%
Neoplasm
2.7%
Constitutional symptom
1.8%
Abnormal cellular phenotype
1.4%
Abnormality of the breast
1.1%
Abnormality of the voice
0.3%
Abnormality of the thoracic cavity
0%

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