DEFB131B

Chr 11

defensin beta 131B

NCBI Gene: 100129216 ENSG00000225805 UniProt: A0A096LNP1

Predicted to be involved in defense response to bacterium and innate immune response. Predicted to be located in extracellular region. Predicted to be active in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in DEFB131B?

gnomAD v4 · ~730k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 820

85 rare PASS variants

Rare truncating (LoF)

1 in 2,900

13 rare PASS variants

Rare synonymous (reference)

1 in 3,800

29 rare PASS variants

Rare missense and truncating variants are carried at similar rates in DEFB131B; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 8 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 1,300	1 in 50,000
South Asian	~43k	1 in 250	≈ 1 in 40,000
Remaining (unassigned)	~30k	1 in 360	1 in 1,400
European (Finnish)	~27k	1 in 3,000	none seen
Admixed American	~22k	1 in 1,200	≈ 1 in 5,700
African / African American	~21k	1 in 600	1 in 880
East Asian	~20k	1 in 520	1 in 2,800
Middle Eastern	~2,068	≈ 1 in 2,100	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 2 coding exons well covered in gnomAD exomes and genomes.? see exons ↓