ADAMTS19 Chromosome 5
ADAM metallopeptidase with thrombospondin type 1 motif 19
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What This Gene Does
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) 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 protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS16, another family member. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
ADAM metallopeptidases with thrombospondin type 1 motif
Locus Type
gene with protein product
Location
5q23.3
Ensembl
ENSG00000145808
Associated Conditions (2)
ADAMTS19-related disorder
Cardiac valvular dysplasia 2
Key Variants
RS780852099
Likely pathogenic
ADAMTS19-related disorder, ADAMTS19-related disorder
Health Risk
RS1269062522
Pathogenic
Cardiac valvular dysplasia 2, Cardiac valvular dysplasia 2
Health Risk
RS1480639715
Pathogenic
Health Risk
RS2479600524
Pathogenic
Health Risk
RS2479600850
Pathogenic
Health Risk
RS772148624
Pathogenic
Cardiac valvular dysplasia 2, Cardiac valvular dysplasia 2
Health Risk
RS780595297
Pathogenic
Cardiac valvular dysplasia 2, Cardiac valvular dysplasia 2
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS780852099 | Health Risk | Likely pathogenic | ADAMTS19-related disorder, ADAMTS19-related disorder |
| RS1269062522 | Health Risk | Pathogenic | Cardiac valvular dysplasia 2, Cardiac valvular dysplasia 2 |
| RS1480639715 | Health Risk | Pathogenic | — |
| RS2479600524 | Health Risk | Pathogenic | — |
| RS2479600850 | Health Risk | Pathogenic | — |
| RS772148624 | Health Risk | Pathogenic | Cardiac valvular dysplasia 2, Cardiac valvular dysplasia 2 |
| RS780595297 | Health Risk | Pathogenic | Cardiac valvular dysplasia 2, Cardiac valvular dysplasia 2 |