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DMDM specifications


Unique identifier OMICS_10750
Alternative name Domain Mapping of Disease Mutations
Restrictions to use None
Maintained Yes


  • Primates
    • Homo sapiens


  • person_outline Maricel Kann

Publication for Domain Mapping of Disease Mutations

DMDM citations


Self regulation of functional pathways by motifs inside the disordered tails of beta catenin

BMC Genomics
PMCID: 5009561
PMID: 27585692
DOI: 10.1186/s12864-016-2825-9

[…] strate the conserved patterns of amino acids. (2) Mutation analysis: Amino acid substitutions in human beta-Catenin were retrieved from UniprotKB, COSMIC (Catalogue of Somatic Mutation in Cancer) [], DMDM (Domain Mapping of Disease Mutations) [], and BioMuta [] databases. These four databases have 20, 278, 20, and 138 mutations, respectively. Both of the UniProtKB and DMDM databases contain one un […]


Num1 anchors mitochondria to the plasma membrane via two domains with different lipid binding specificities

PMCID: 4896055
PMID: 27241910
DOI: 10.1083/jcb.201511021
call_split See protocol

[…] Odyssey Infrared Imaging System (LI-COR Biosciences) and quantified using the accompanying software.To visualize CC-GFP, CC-GFP-CC, and CC-GFP-PH, W303 GAL4-EstrogenBD-VP16 Δnum1::HIS and Δnum1::HIS Δmdm36::NAT strains harboring p414-GalL::Num1CC-GFP, p414-GalL::Num1CC-GFP-Num1CC, or p414-GalL::Num1CC-GFP-Num1PH, respectively, and pXY142-mito-dsRED were grown in SC-LEU-TRP + DEX media with 2× Ade […]


Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome

Orphanet J Rare Dis
PMCID: 4070100
PMID: 24907849
DOI: 10.1186/1750-1172-9-80

[…] s or what tissues express the two isoforms affected by the c.C5054G/p.S1685W mutation. To date, twenty polymorphisms for ZNF407 have been reported in the Domain Mapping of Disease Mutations database (DMDM) []. The natural variants reported in the UniProt database entry Q9C0G0 (N69S, G512R, N972T, S1259L, A1913T) are included in DMDM. None of these, though, have been associated with known diseases. […]


Chapter 15: Disease Gene Prioritization

PLoS Comput Biol
PMCID: 3635969
PMID: 23633938
DOI: 10.1371/journal.pcbi.1002902

[…] d. In fact, most methods estimate that only 25–30% of the nsSNPs negatively affect protein function . Databases like OMIM , and more explicitly, SNPdbe , SNPeffect , PolyDoms , [email protected] Glance and DMDM map SNPs to known structural/functional effects and diseases. Computational tools that make predictions about functional and disease-associated effects of SNPs include SNAP , , SIFT , , PolyPhen […]


Remodeling of Oxidative Energy Metabolism by Galactose Improves Glucose Handling and Metabolic Switching in Human Skeletal Muscle Cells

PLoS One
PMCID: 3613401
PMID: 23560061
DOI: 10.1371/journal.pone.0059972

[…] After proliferation and differentiation in DMDM-media with 5.5 mM glucose or 5.5 mM galactose, cells were harvested and total RNA was isolated by RNeasy Mini kit (Qiagen Sciences, Oslo, Norway) according to the supplier’s total RNA isolation p […]


Annotation of functional sites with the Conserved Domain Database

PMCID: 3308149
PMID: 22434827
DOI: 10.1093/database/bar058

[…] nteractions Server (IBIS) resource (), where such clusters can be used to infer interactions for proteins sequence similar to those with known 3D structure. CDD site annotation is also visible in the domain mapping of disease mutations (DMDMs) resource, where it can be contrasted with known disease mutations and polymorphisms (). Figure 1.SwissProt, as maintained by the UniProt Knowledgebase (), i […]


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DMDM institution(s)
Department of Biological Sciences, University of Maryland, Baltimore County, Baltimore, MD, USA
DMDM funding source(s)
National Institutes of Health (NIH) [1K22CA143148; R01LM009722]

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