The Pharmacogenetics and Pharmacogenomics Knowledge Base More.PharmGKB i Orphanet a database dedicated to information on rare diseases and orphan drugs More.Orphanet iĩ8824, Atypical chronic myeloid leukemia 420702, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 86829, Chronic neutrophilic leukemia 279943, Hereditary neutrophilia MalaCards human disease database More.MalaCards i Keywords - Disease i Disease variant Organism-specific databases Keywords - Cellular component i Cell membrane, Membrane, SecretedĬited for: INVOLVEMENT IN SCN7, VARIANT SCN7 CYS-308, CHARACTERIZATION OF VARIANT SCN7 CYS-308, SUBCELLULAR LOCATION, GLYCOSYLATION.Ĭorresponds to variant dbSNP:rs606231473 Ensembl ClinVar. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane i This subsection of the 'Subcellular location' section describes the extent of a membrane-spanning region of the protein. This subsection of the 'Subcellular location' section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is domain iĮxtracellular Sequence analysis Add BLAST NeXtProt the human protein knowledge platform More.neXtProt iĮukaryotic Pathogen, Vector and Host Database Resources More.VEuPathDB iĬomplete GO annotation on QuickGO. Online Mendelian Inheritance in Man (OMIM) More.MIM i Human Gene Nomenclature Database More.HGNC i of a set of proteins thought to be expressed by organisms whose genomes have been completely iĪ UniProt proteome can consist of several components.The component name refers to the genomic component encoding a set of proteins.More. This subsection of the Names and taxonomy section is present for entries that are part of a proteome, i.e. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed lineage iĬellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
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This subsection of the Names and taxonomy section contains the taxonomic hierarchical classification lineage of the source organism. This is known as the 'taxonomic identifier' or 'taxid'.More.Taxonomic identifier i This subsection of the Names and taxonomy section shows the unique identifier assigned by the NCBI to the source organism of the protein. This subsection of the Names and taxonomy section provides information on the name(s) of the organism that is the source of the protein i Inferred from biological aspect of ancestor i
Heyco 836 m3200gbh 3d content central code#
More information in the GO evidence code guide Inferred from Biological aspect of AncestorĪ type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene. The Gene Ontology (GO) project provides a set of hierarchical controlled vocabulary split into 3 categories:More.GO - Molecular function i Constitutive mutations leading to hyporesponsive forms of the receptor are responsible for the refractoriness to CSF3 treatment observed in some SCN patients. Patients carrying these mutations are at risk for developing myelodysplastic syndromes and/or acute myeloid leukemia. Mutations in CSF3R acquired in multipotent hematopoietic progenitor cells and resulting in truncated hyper-responsive forms of the receptor, have been identified in most cases of severe congenital neutropenia (SCN). TPSPKSYENLWFQASPLGTLVTPAPSQEDDCVFGPLLNFPLLQGIRVHGMEALGSFĪlign Format Add to basket Added to basket History PTLVQTYVLQGDPRAVSTQPQSQSGTSDQVLYGQLLGSPTSPGPGHYLRCDSTQPLLAGL SVPDPAHSSLGSWVPTIMEEDAFQLPGLGTPPITKLTVLEEDEKKPVPWESHNSSETCGL
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MAASQAGATNSTVLTLMTLTPEGSELHIILGLFGLLLLLTCLCGTAWLCCSPNRKNPLWP TWAQLEWVPEPPELGKSPLTHYTIFWTNAQNQSFSAILNASSRGFVLHGLEPASLYHIHL QNGRATGFLLKENIRPFQLYEIIVTPLYQDTMGPSQHVYAYSQEMAPSHAPELHLKHIGK PVVFSESRGPALTRLHAMARDPHSLWVGWEPPNPWPQGYVIEWGLGPPSASNSNKTWRME LEEDSGRIQGYVVSWRPSGQAGAILPLCNTTELSCTFHLPSEAQEVALVAYNSAGTSRPT TAYTLQIRCIRWPLPGHWSDWSPSLELRTTERAPTVRLDTWWRQRQLDPRTVQLFWKPVP YPPAIPHNLSCLMNLTTSSLICQWEPGPETHLPTSFTLKSFKSRGNCQTQGDSILDCVPKĭGQSHCCIPRKHLLLYQNMGIWVQAENALGTSMSPQLCLDPMDVVKLEPPMLRTMDPSPEĪAPPQAGCLQLCWEPWQPGLHINQKCELRHKPQRGEASWALVGPLPLEALQYELCGLLPA ILWRLGAELQPGGRQQRLSDGTQESIITLPHLNHTQAFLSCCLNWGNSLQILDQVELRAG MARLGNCSLTWAALIILLLPGSLEECGHISVSAPIVHLGDPITASCIIKQNCSHLDPEPQ BLAST >sp|Q99062|CSF3R_HUMAN Granulocyte colony-stimulating factor receptor OS=Homo sapiens OX=9606 GN=CSF3R PE=1 SV=1