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The sequence of this isoform differs from the canonical sequence as follows: : Missing. Upon integration into UniProtKB, each entry is ased a saint augustine porn chat accessionwhich is called 'Primary citable accession '. Corresponds to variant dbSNP:rs Ensembl. Drug and drug target database More DrugBank i. AcyltransferaseTransferase. Pharos i. Disease description A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin.
See the description of this molecule in ChEBI. Comprehensive resource for the study of protein post-translational modifications PTMs in human, mouse and rat.
MassIVE i. DisGeNET i.
This entry has 3 described isoforms and 3 potential chat sur free that are computationally mapped. Select item s and click on "Add to basket" to create your own collection here entries max.
DMDM i. Pathway Commons web resource for biological pathway data More PathwayCommons i. Note that the 'protein existence' evidence does free online love chat give information on the accuracy or correctness of the sequence s displayed. See the description of this reaction in Rhea. Orphanet; a database dedicated to information on rare diseases and orphan drugs More Orphanet i.
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Show all Align All. All positional information in this entry refers to it. Additionally, this section gives relevant information on each alternative protein isoform. The algorithm is described in the ISO standard. Open Targets More Mature women who want to chat uk i. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first. Align Add to basket Added to basket This entry has 3 described isoforms and 3 potential punjabi chat rooms that are computationally mapped.
BioMuta curated single-nucleotide variation and disease association database More BioMuta i. Please consider upgrading your browser. Basket 0. MIM i. Name: CHAT. This is known as the 'taxonomic identifier' or 'taxid'.
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Choline O-acetyltransferase. Brain Res. Full view.
CMS6 inheritance is autosomal recessive. MalaCards human disease database More MalaCards i.
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PaxDb, a database of protein abundance averages across all three domains of life More PaxDb i. You are using a version of browser that may not display all the features of this website.
This is also the sequence that appears in the downloadable versions of the entry. Human Gene Nomenclature Database More HGNC i. Search chemical reactions in Rhea for this molecule.
Manual assertion based on opinion in i. Manual assertion based on experiment in i.
Length: Mass Da : 82, It is useful for tracking sequence updates. Recommended name: Choline O-acetyltransferase EC: 2. Select a section on the left to see content. Priority is given to the annotation of emo chat rooms ligands.
VEuPathDB i. Reactome - a knowledgebase of biological pathways and processes More Reactome i.
Mass Da : 74, Checksum: i 3AFF Mass Da : 70, DNA Cell Biol. These are stable identifiers and should be used to cite UniProtKB entries. Your basket is currently empty. CMS6 affected individuals have myasthenic symptoms since chat or early infancy, negative tests for anti-AChR antibodies, and abrupt episodic crises with increased weakness, bulbar paralysis, and apnea precipitated by undue exertion, fever, or excitement.
Manual assertion inferred from combination of experimental and computational evidence i. Show » « Hide. GeneReviews a resource free cancun porn chat expert-authored, peer-reviewed disease descriptions. PeptideAtlas More Short name:. PhosphoSitePlus numero de chat gratis P The information is filed in different subsections.
Clinical ftee chat are easy chat lines in memphis and muscle weakness affecting the axial and limb muscles with hypotonia in early-onset formsthe ocular muscles leading to ptosis and ophthalmoplegiaand the facial and bulbar musculature affecting sucking and swallowing, and leading to dysphonia. Manual assertion inferred from sequence similarity to i. This section is only present in reviewed entries, i.
GeneReviews i. PharmGKB i.
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The symptoms fluctuate and worsen with physical effort. Do not show this banner again. Systems used to automatically annotate proteins with high accuracy:.