DDAH1

dimethylarginine dimethylaminohydrolase 1

Basic information

Region (hg38): 1:85318480-85578363

Links

ENSG00000153904 ∙ NCBI:23576 ∙ OMIM:604743 ∙ HGNC:2715 ∙ Uniprot:O94760 ∙ 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 DDAH1 gene.

• Inborn genetic diseases (8 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DDAH1 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						0
missense			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	8	0	1

Variants in DDAH1

This is a list of pathogenic ClinVar variants found in the DDAH1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-85321524-C-T		not specified	Uncertain significance (May 11, 2022)
1-85321544-T-C		not specified	Uncertain significance (Dec 19, 2022)
1-85324771-C-T		not specified	Uncertain significance (May 03, 2023)
1-85324784-C-T		not specified	Uncertain significance (Sep 16, 2021)
1-85324862-G-A		not specified	Uncertain significance (May 18, 2023)
1-85464756-C-T		not specified	Uncertain significance (Jun 05, 2023)
1-85464772-G-C		not specified	Uncertain significance (Sep 29, 2023)
1-85464888-A-G		not specified	Uncertain significance (Dec 14, 2023)
1-85464927-A-G		not specified	Uncertain significance (May 24, 2023)
1-85465026-G-C		not specified	Uncertain significance (Feb 22, 2023)
1-85465439-T-TGCAC			Benign (Apr 19, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DDAH1	protein_coding	protein_coding	ENST00000284031	6	259770

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00280	0.944	125737	0	9	125746	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.49	98	149	0.657	0.00000731	1839
Missense in Polyphen		30	58.478	0.51301		750
Synonymous	0.279	58	60.8	0.955	0.00000321	550
Loss of Function	1.69	6	12.4	0.482	7.16e-7	139

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000545	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.0000545	0.0000544
South Asian	0.0000328	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Hydrolyzes N(G),N(G)-dimethyl-L-arginine (ADMA) and N(G)-monomethyl-L-arginine (MMA) which act as inhibitors of NOS. Has therefore a role in the regulation of nitric oxide generation.
• Pathway: Mesodermal Commitment Pathway;Metabolism of nitric oxide;eNOS activation;eNOS activation and regulation;Metabolism (Consensus)

Intolerance Scores

• loftool: 0.148
• rvis_EVS: -0.1
• rvis_percentile_EVS: 46.49

Haploinsufficiency Scores

• pHI: 0.501
• hipred: Y
• hipred_score: 0.592
• ghis: 0.644

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.185

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ddah1
• Phenotype: homeostasis/metabolism phenotype; muscle phenotype; skeleton phenotype; immune system phenotype; 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); hematopoietic system 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)

Gene ontology

• Biological process: citrulline metabolic process;regulation of systemic arterial blood pressure;arginine metabolic process;arginine catabolic process;nitric oxide mediated signal transduction;negative regulation of cell population proliferation;negative regulation of vascular permeability;positive regulation of nitric oxide biosynthetic process;positive regulation of angiogenesis;regulation of nitric-oxide synthase activity;negative regulation of cellular response to hypoxia
• Cellular component: cytosol;extracellular exosome
• Molecular function: catalytic activity;dimethylargininase activity;amino acid binding;metal ion binding