ADAM19

ADAM metallopeptidase domain 19, the group of ADAM metallopeptidase domain containing

Basic information

Region (hg38): 5:157395534-157575775

Links

ENSG00000135074 ∙ NCBI:8728 ∙ OMIM:603640 ∙ HGNC:197 ∙ Uniprot:Q9H013 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ADAM19 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAM19 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	1	2
missense			55	3	4	62
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					2	2
non coding			5			5
Total	0	0	60	4	5

Variants in ADAM19

This is a list of pathogenic ClinVar variants found in the ADAM19 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
5-157459690-C-T			Benign (Jun 19, 2021)
5-157459811-G-C			Benign (Jun 20, 2021)
5-157459842-A-G			Benign (Nov 12, 2018)
5-157459885-C-T			Benign (Jun 20, 2021)
5-157460014-C-A		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 12, 2018)
5-157460037-C-T		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 12, 2018)
5-157460094-C-T		Autosomal recessive congenital ichthyosis 6	Likely benign (Jan 13, 2018)
5-157460111-C-A		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)
5-157460125-A-G		Autosomal recessive congenital ichthyosis 6 • not specified	Benign (Jan 13, 2018)
5-157460136-T-C		Autosomal recessive congenital ichthyosis 6	Pathogenic (May 16, 2019)
5-157460148-C-A		Inborn genetic diseases	Uncertain significance (May 20, 2024)
5-157460192-C-T		Inborn genetic diseases	Uncertain significance (May 17, 2023)
5-157460193-C-A		Inborn genetic diseases	Uncertain significance (Jan 30, 2024)
5-157460197-G-A		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)
5-157460205-A-T		Inborn genetic diseases	Uncertain significance (May 24, 2024)
5-157460209-C-T			Benign (May 23, 2023)
5-157460212-C-A		Autosomal recessive congenital ichthyosis 6	Benign/Likely benign (Oct 27, 2021)
5-157460218-CTCGC-T		not specified	Uncertain significance (Dec 23, 2021)
5-157460220-C-A			Uncertain significance (Nov 30, 2023)
5-157460228-A-C		Inborn genetic diseases	Uncertain significance (Mar 21, 2023)
5-157460241-A-G			Uncertain significance (Aug 05, 2019)
5-157460250-G-A		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Nov 06, 2017)
5-157460262-C-T			Benign (Apr 08, 2022)
5-157460300-G-A		Inborn genetic diseases	Uncertain significance (Dec 20, 2023)
5-157460324-G-T		Lamellar ichthyosis	Likely pathogenic (Sep 16, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADAM19	protein_coding	protein_coding	ENST00000257527	23	180242

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000680	1.00	125701	0	47	125748	0.000187

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.88	409	531	0.770	0.0000304	5970
Missense in Polyphen		133	206.89	0.64286		2345
Synonymous	0.465	203	212	0.959	0.0000133	1806
Loss of Function	4.40	17	50.9	0.334	0.00000293	557

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000392	0.000366
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000274	0.000264
Middle Eastern	0.000109	0.000109
South Asian	0.0000980	0.0000980
Other	0.000358	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Participates in the proteolytic processing of beta-type neuregulin isoforms which are involved in neurogenesis and synaptogenesis, suggesting a regulatory role in glial cell. Also cleaves alpha-2 macroglobulin. May be involved in osteoblast differentiation and/or osteoblast activity in bone (By similarity). {ECO:0000250}.
• Pathway: Mesodermal Commitment Pathway;Invadopodia formation;Extracellular matrix organization (Consensus)

Recessive Scores

• pRec: 0.131

Intolerance Scores

• loftool: 0.452
• rvis_EVS: 0.92
• rvis_percentile_EVS: 89.57

Haploinsufficiency Scores

• pHI: 0.715
• hipred: Y
• hipred_score: 0.682
• ghis: 0.504

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.440

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Adam19
• Phenotype: endocrine/exocrine gland phenotype; muscle phenotype; homeostasis/metabolism phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: placenta development;membrane protein ectodomain proteolysis;positive regulation of gene expression;extracellular matrix organization;positive regulation of cell-cell adhesion mediated by cadherin
• Cellular component: nucleus;Golgi apparatus;plasma membrane;integral component of membrane;collagen-containing extracellular matrix
• Molecular function: metalloendopeptidase activity;protein binding;SH3 domain binding;metal ion binding