ADAMTS3

Chr 4

ADAM metallopeptidase with thrombospondin type 1 motif 3

Also known as: ADAMTS-4, HKLLS3

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease, a member of the procollagen aminopropeptidase subfamily of proteins, may play a role in the processing of type II fibrillar collagen in articular cartilage. [provided by RefSeq, Feb 2016]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHennekam lymphangiectasia-lymphedema syndrome 3
2
Active trials
17
Pubs (1 yr)
P/LP submissions
P/LP missense
0.60
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.60LOEUF
pLI 0.000
Z-score 4.13
OE 0.44 (0.330.60)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.55Z-score
OE missense 0.94 (0.881.00)
641 obs / 681.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.44 (0.330.60)
00.351.4
Missense OE?0.94 (0.881.00)
00.61.4
Synonymous OE?0.97
01.21.6
LoF obs/exp: 28 / 63.5Missense obs/exp: 641 / 681.0Syn Z: 0.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ADAMTS3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.