This is the location of the mutation sites within the COPA protein.

This information is based on published, peer-reviewed case studies describing the clinical presentations of patients who have been diagnosed with COPA Syndrome and sequenced for a causative mutation. The number of patients with each mutation varies greatly, and specific symptom information is not available for all patients.

K230N

Three patients with this mutation have been studied.

This is the structure of position 230 in persons unaffected by this mutation.

This is the structure of position 230 in COPA Syndrome patients with a K230N mutation.

Interstitial Lung Disease

Chronic lung inflammation

At least one patient is affected.

Lung Restriction

Decreased lung capacity

At least one patient is affected.

Pulmonary Hemorrhage

Leakage of blood into the lungs

One patient is affected.

Arthritis

Joint inflammation

At least one patient is affected.

Glomerulonephritis

Inflammation of blood-filtering structures (glomeruli) in the kidneys

One patient is affected.

Renal Fibrosis

Excessive scarring of kidney tissue

One patient is affected.

Dyskinesia

Involuntary movements

Two patients are affected.

Angiitis

Blood vessel inflammation

One patient is affected.

Asymptomatic

One patient is asymptomatic.

R233H

Twelve patients with this mutation have been studied.

This is the structure of position 233 in persons unaffected by this mutation.

This is the structure of position 233 in COPA Syndrome patients with an R233H mutation.

Interstitial Lung Disease

Chronic lung inflammation

At least eight patients are affected.

Lung Restriction

Decreased lung capacity

At least six patients are affected.

Pulmonary Hemorrhage

Leakage of blood into the lungs

Three patients are affected.

Emphysema

Damage to air sacs (alveoli) in the lungs

One patient is affected.

Lung Cancer

Uncontrolled abnormal cell growth in the lungs

One patient is affected.

Arthritis

Joint inflammation

At least six patients are affected.

Glomerulonephritis

Inflammation of blood-filtering structures (glomeruli) in the kidneys

Two patients are affected.

Renal Fibrosis

Excessive scarring of kidney tissue

Two patients are affected.

Pyelonephritis

Inflammation of the kidney via the urinary tract

One patient is affected.

Thyroid Disease

Dysfunctional hormone production by the thyroid gland

One patient is affected.

Anemia

Lack of healthy red blood cells for oxygen transport

One patient is affected.

Asymptomatic

One patient is asymptomatic.

A239P

Several patients have been identified with this mutation, but none have been clincally characterized.

This is the structure of position 239 in persons unaffected by this mutation.

This is the structure of position 239 in COPA Syndrome patients with an A239P mutation.

W240R

One patient with this mutation has been studied.

This is the structure of position 240 in persons unaffected by this mutation.

This is the structure of position 240 in COPA Syndrome patients with a W240R mutation.

Joint Pain

Soreness of joints without an arthritis diagnosis

One patient is affected.

Lung Restriction

Decreased lung capacity

One patient is affected.

E241K

Eleven patients with this mutation have been studied.

This is the structure of position 241 in persons unaffected by this mutation.

This is the structure of position 241 in COPA Syndrome patients with an E241K mutation.

Interstitial Lung Disease

Chronic lung inflammation

Four to eight patients are affected.

Lung Restriction

Decreased lung capacity

Two to six patients are affected.

Pulmonary Hemorrhage

Leakage of blood into the lungs

Two patients are affected.

Emphysema

Damage to air sacs (alveoli) in the lungs

One patient is affected.

Chronic Bronchiolitis

Persistent infections of the small airways (bronchioles) leading to inflammation

Three patients are affected.

Arthritis

Joint inflammation

Two to six patients are affected.

Lymphoid Hyperplasia

Cell growths in the lymph nodes of the immune system

One patient is affected.

Neuroendocrine Hyperplasia

Growth of hormone-producing cells in the lungs

One patient is affected.

Asymptomatic

Three patients are asymptomatic.

De Novo E241A Mutation

One patient has this mutation, which likely arose spontaneously in their genome.

This patient experiences low bone density, lung hemorrhage, and emphysema.

D243G

Six patients with this mutation have been studied.

This is the structure of position 243 in persons unaffected by this mutation.

This is the structure of position 243 in COPA Syndrome patients with a D243G mutation.

Interstitial Lung Disease

Chronic lung inflammation

Two patients are affected.

Lung Restriction

Decreased lung capacity

One patient is affected.

Pulmonary Hemorrhage

Leakage of blood into the lungs

One patient is affected.

Cystic Fibrosis

Genetic lung infection

One patient is affected.

Arthritis

Joint inflammation

Two patients are affected.

Lupus

Autoimmune disease (immune response mounted against the body’s own tissue)

One patient is affected.