Domain mapping of disease mutations
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Domain mapping of disease mutations
metasource: Fairsharing.org
version: FAIRsharing.org: DMDM; Domain mapping of disease mutations; DOI: https://doi.org/10.25504/FAIRsharing.kz6vpp; Last edited: April 26, 2021, 3:25 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
DMDM
metasource: Fairsharing.org
version: FAIRsharing.org: DMDM; Domain mapping of disease mutations; DOI: https://doi.org/10.25504/FAIRsharing.kz6vpp; Last edited: April 26, 2021, 3:25 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
Names
More detailed information about this field from each metasource.
Domain mapping of disease mutations
metasource: Fairsharing.orgversion: FAIRsharing.org: DMDM; Domain mapping of disease mutations; DOI: https://doi.org/10.25504/FAIRsharing.kz6vpp; Last edited: April 26, 2021, 3:25 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
DMDM
metasource: Fairsharing.orgversion: FAIRsharing.org: DMDM; Domain mapping of disease mutations; DOI: https://doi.org/10.25504/FAIRsharing.kz6vpp; Last edited: April 26, 2021, 3:25 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
Names
More detailed information about this field from each metasource.
Domain mapping of disease mutations
metasource: Fairsharing.orgversion: FAIRsharing.org: DMDM; Domain mapping of disease mutations; DOI: https://doi.org/10.25504/FAIRsharing.kz6vpp; Last edited: April 26, 2021, 3:25 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
DMDM
metasource: Fairsharing.orgversion: FAIRsharing.org: DMDM; Domain mapping of disease mutations; DOI: https://doi.org/10.25504/FAIRsharing.kz6vpp; Last edited: April 26, 2021, 3:25 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
Domain mapping of disease mutations (DMDM) is a database in which each disease mutation can be displayed by its gene, protein or domain location.
Description
More detailed information about this field from each metasource.
Domain mapping of disease mutations (DMDM) is a database in which each disease mutation can be displayed by its gene, protein or domain location.
metasource: Fairsharing.orgversion: FAIRsharing.org: DMDM; Domain mapping of disease mutations; DOI: https://doi.org/10.25504/FAIRsharing.kz6vpp; Last edited: April 26, 2021, 3:25 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
Webpage:
http://bioinf.umbc.edu/dmdm/Webpage
More detailed information about this field from each metasource.
http://bioinf.umbc.edu/dmdm/
metasource: Fairsharing.orgversion: FAIRsharing.org: DMDM; Domain mapping of disease mutations; DOI: https://doi.org/10.25504/FAIRsharing.kz6vpp; Last edited: April 26, 2021, 3:25 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
Licence:
Name: DMDM Attribution requiredLicence name
More detailed information about this field from each metasource.
DMDM Attribution required
metasource: Fairsharing.orgversion: FAIRsharing.org: DMDM; Domain mapping of disease mutations; DOI: https://doi.org/10.25504/FAIRsharing.kz6vpp; Last edited: April 26, 2021, 3:25 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
Licence URL
More detailed information about this field from each metasource.
http://bioinf.umbc.edu/dmdm/
metasource: Fairsharing.orgversion: FAIRsharing.org: DMDM; Domain mapping of disease mutations; DOI: https://doi.org/10.25504/FAIRsharing.kz6vpp; Last edited: April 26, 2021, 3:25 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
Publications:
Publications
More detailed information about this field from each metasource.
DMDM: domain mapping of disease mutations
PMID: 20685956
metasource: Fairsharing.org
version: FAIRsharing.org: DMDM; Domain mapping of disease mutations; DOI: https://doi.org/10.25504/FAIRsharing.kz6vpp; Last edited: April 26, 2021, 3:25 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
Publications
More detailed information about this field from each metasource.
DMDM: domain mapping of disease mutations
PMID: 20685956
metasource: Fairsharing.org
version: FAIRsharing.org: DMDM; Domain mapping of disease mutations; DOI: https://doi.org/10.25504/FAIRsharing.kz6vpp; Last edited: April 26, 2021, 3:25 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
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DMDM: domain mapping of disease mutations
PubMed citations: 32.
32 articles citing: DMDM: domain mapping of disease mutations
Calculating and comparing codon usage values in rare disease genes highlights codon clustering with disease-and tissue- specific hierarchy. PMID:35358230
Glycosylation of Serum Clusterin in Wild-Type Transthyretin-Associated (ATTRwt) Amyloidosis: A Study of Disease-Associated Compositional Features Using Mass Spectrometry Analyses. PMID:33141553
PMEPA1 Gene Isoforms: A Potential Biomarker and Therapeutic Target in Prostate Cancer. PMID:32842649
Structural studies of serum clusterin in ATTRwt amyloidosis. PMID:31343316
Human COQ10A and COQ10B are distinct lipid-binding START domain proteins required for coenzyme Q function. PMID:31048406
Empirical null estimation using zero-inflated discrete mixture distributions and its application to protein domain data. PMID:28940296
A tripeptidyl peptidase 1 is a binding partner of the Golgi pH regulator (GPHR) in Dictyostelium. PMID:28546289
Oncodomains: A protein domain-centric framework for analyzing rare variants in tumor samples. PMID:28426665
Identification and analysis of mutational hotspots in oncogenes and tumour suppressors. PMID:28423505
Annotating Mutational Effects on Proteins and Protein Interactions: Designing Novel and Revisiting Existing Protocols. PMID:28188534
Protein Bioinformatics Databases and Resources. PMID:28150231
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. PMID:27616478
Self-regulation of functional pathways by motifs inside the disordered tails of beta-catenin. PMID:27585692
Pan-Cancer Analysis of Mutation Hotspots in Protein Domains. PMID:27135912
SLC transporters as a novel class of tumour suppressors: identity, function and molecular mechanisms. PMID:27118869
LowMACA: exploiting protein family analysis for the identification of rare driver mutations in cancer. PMID:26860319
Exploring the complete mutational space of the LDL receptor LA5 domain using molecular dynamics: linking SNPs with disease phenotypes in familial hypercholesterolemia. PMID:26755827
GWASdb v2: an update database for human genetic variants identified by genome-wide association studies. PMID:26615194
MutationAligner: a resource of recurrent mutation hotspots in protein domains in cancer. PMID:26590264
Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome. PMID:24907849
Hereditary leukemia due to rare RUNX1c splice variant (L472X) presents with eczematous phenotype. PMID:24353905
IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds. PMID:24045995
M2SG: mapping human disease-related genetic variants to protein sequences and genomic loci. PMID:24002112
Towards precision medicine: advances in computational approaches for the analysis of human variants. PMID:23962656
A protein domain-centric approach for the comparative analysis of human and yeast phenotypically relevant mutations. PMID:23819456
Chapter 15: disease gene prioritization. PMID:23633938
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. PMID:23033316
Domain landscapes of somatic mutations in cancer. PMID:22759657
Translating Mendelian and complex inheritance of Alzheimer's disease genes for predicting unique personal genome variants. PMID:22319180
Incorporating molecular and functional context into the analysis and prioritization of human variants associated with cancer. PMID:22319177
Bioinformatics for personal genome interpretation. PMID:22247263
Meet me halfway: when genomics meets structural bioinformatics. PMID:21350909
Tags:
Tags
More detailed information about this field from each metasource.
disease
metasource: Fairsharing.org
version: FAIRsharing.org: DMDM; Domain mapping of disease mutations; DOI: https://doi.org/10.25504/FAIRsharing.kz6vpp; Last edited: April 26, 2021, 3:25 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
hidden markov model
metasource: Fairsharing.org
version: FAIRsharing.org: DMDM; Domain mapping of disease mutations; DOI: https://doi.org/10.25504/FAIRsharing.kz6vpp; Last edited: April 26, 2021, 3:25 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
mutation analysis
metasource: Fairsharing.org
version: FAIRsharing.org: DMDM; Domain mapping of disease mutations; DOI: https://doi.org/10.25504/FAIRsharing.kz6vpp; Last edited: April 26, 2021, 3:25 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
protein
metasource: Fairsharing.org
version: FAIRsharing.org: DMDM; Domain mapping of disease mutations; DOI: https://doi.org/10.25504/FAIRsharing.kz6vpp; Last edited: April 26, 2021, 3:25 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
protein domain
metasource: Fairsharing.org
version: FAIRsharing.org: DMDM; Domain mapping of disease mutations; DOI: https://doi.org/10.25504/FAIRsharing.kz6vpp; Last edited: April 26, 2021, 3:25 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
Tags
More detailed information about this field from each metasource.
disease
metasource: Fairsharing.orgversion: FAIRsharing.org: DMDM; Domain mapping of disease mutations; DOI: https://doi.org/10.25504/FAIRsharing.kz6vpp; Last edited: April 26, 2021, 3:25 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
hidden markov model
metasource: Fairsharing.orgversion: FAIRsharing.org: DMDM; Domain mapping of disease mutations; DOI: https://doi.org/10.25504/FAIRsharing.kz6vpp; Last edited: April 26, 2021, 3:25 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
mutation analysis
metasource: Fairsharing.orgversion: FAIRsharing.org: DMDM; Domain mapping of disease mutations; DOI: https://doi.org/10.25504/FAIRsharing.kz6vpp; Last edited: April 26, 2021, 3:25 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
protein
metasource: Fairsharing.orgversion: FAIRsharing.org: DMDM; Domain mapping of disease mutations; DOI: https://doi.org/10.25504/FAIRsharing.kz6vpp; Last edited: April 26, 2021, 3:25 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
protein domain
metasource: Fairsharing.orgversion: FAIRsharing.org: DMDM; Domain mapping of disease mutations; DOI: https://doi.org/10.25504/FAIRsharing.kz6vpp; Last edited: April 26, 2021, 3:25 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
disease hidden markov model mutation analysis protein protein domain
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