DDAH1
Basic information
Region (hg38): 1:85318481-85578363
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | 10 | 10 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 1 | |||||
| Total | 0 | 0 | 10 | 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:
| 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:
- 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