PRSS27

Chr 16

serine protease 27

Also known as: CAPH2, MPN

NCBI Gene: 83886 ENSG00000172382 UniProt: Q9BQR3 OMIM: 608018

The encoded protein is a secreted tryptic serine protease expressed mainly in the pancreas. Mutations in this gene cause autosomal recessive enterokinase deficiency, a rare disorder presenting in infancy with failure to thrive, diarrhea, and malabsorption due to impaired pancreatic enzyme activation. The gene is highly tolerant to loss-of-function variants in the general population (pLI = 0.00008), consistent with the recessive inheritance pattern.

OMIM ResearchSummary from RefSeq

This gene is located within a large protease gene cluster on chromosome 16. It belongs to the group-1 subfamily of serine proteases. The encoded protein is a secreted tryptic serine protease and is expressed mainly in the pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.18

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.18LOEUF

pLI 0.000

Z-score 1.13

OE 0.65 (0.38–1.18)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.78Z-score

OE missense 0.83 (0.73–0.96)

145 obs / 173.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.65 (0.38–1.18)

0≤0.351.4

Missense OE?0.83 (0.73–0.96)

0≤0.61.4

Synonymous OE?0.92

0≤1.21.6

LoF obs/exp: 8 / 12.3Missense obs/exp: 145 / 173.9Syn Z: 0.57

Background carrier burden — how many people carry a rare variant somewhere in PRSS27?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 89

421 rare PASS variants

Rare truncating (LoF)

1 in 2,500

60 rare PASS variants

Rare synonymous (reference)

1 in 130

191 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PRSS27. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 110	1 in 2,700
South Asian	~43k	1 in 94	1 in 1,200
Remaining (unassigned)	~30k	1 in 130	1 in 4,200
European (Finnish)	~27k	1 in 140	1 in 4,500
Admixed American	~22k	1 in 110	1 in 2,400
African / African American	~21k	1 in 110	1 in 2,400
East Asian	~20k	1 in 130	1 in 620
Ashkenazi Jewish	~13k	1 in 240	≈ 1 in 6,300
Middle Eastern	~2,884	1 in 150	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 6 coding exons well covered in gnomAD exomes and genomes.? see exons ↓