ADAMTSL3

Chr 15

ADAMTS like 3

Also known as: ADAMTSL-3

NCBI Gene: 57188 ENSG00000156218 UniProt: P82987 OMIM: 609199

The protein is predicted to be involved in extracellular matrix organization and is located in intracellular membrane-bounded organelles. This gene is highly constrained against loss-of-function variants (pLI ~0, LOEUF 0.65), but specific disease associations and inheritance patterns have not been definitively established in the provided data.

OMIM ResearchSummary from RefSeq

Predicted to be involved in extracellular matrix organization. Predicted to be active in extracellular matrix. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.65

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.65LOEUF

pLI 0.000

Z-score 4.39

OE 0.51 (0.40–0.65)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.48Z-score

OE missense 0.96 (0.91–1.01)

917 obs / 958.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.51 (0.40–0.65)

0≤0.351.4

Missense OE?0.96 (0.91–1.01)

0≤0.61.4

Synonymous OE?0.98

0≤1.21.6

LoF obs/exp: 47 / 92.6Missense obs/exp: 917 / 958.4Syn Z: 0.29

Background carrier burden — how many people carry a rare variant somewhere in ADAMTSL3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 24

2,149 rare PASS variants

Rare truncating (LoF)

1 in 760

280 rare PASS variants

Rare synonymous (reference)

1 in 57

789 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ADAMTSL3. 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 33	1 in 810
South Asian	~43k	1 in 23	1 in 490
Remaining (unassigned)	~30k	1 in 20	1 in 1,000
European (Finnish)	~27k	1 in 130	1 in 1,000
Admixed American	~22k	1 in 27	1 in 600
African / African American	~21k	1 in 24	1 in 670
East Asian	~20k	1 in 24	1 in 880
Ashkenazi Jewish	~13k	1 in 260	1 in 2,200
Middle Eastern	~2,884	1 in 24	1 in 410

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 28 of 29 coding exons well covered in gnomAD exomes; exon 5 marginal. Genomes: all 29.? see exons ↓