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UniProtKB - P51608 (MECP2_HUMAN)

Entry version 244 (23 Feb 2022)
Sequence version 1 (01 Oct 1996)
Previous versions | rss
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Protein

Methyl-CpG-binding protein 2

Gene

MECP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A. Binds both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC).

By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi185 – 197A.T hook 1Add BLAST13
DNA bindingi265 – 277A.T hook 2Add BLAST13

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P51608

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-8986944, Transcriptional Regulation by MECP2
R-HSA-9022534, Loss of MECP2 binding ability to 5hmC-DNA
R-HSA-9022535, Loss of phosphorylation of MECP2 at T308
R-HSA-9022537, Loss of MECP2 binding ability to the NCoR/SMRT complex
R-HSA-9022538, Loss of MECP2 binding ability to 5mC-DNA
R-HSA-9022692, Regulation of MECP2 expression and activity
R-HSA-9022699, MECP2 regulates neuronal receptors and channels
R-HSA-9022702, MECP2 regulates transcription of neuronal ligands
R-HSA-9022707, MECP2 regulates transcription factors
R-HSA-9022927, MECP2 regulates transcription of genes involved in GABA signaling
R-HSA-9725371, Nuclear events stimulated by ALK signaling in cancer

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P51608

SIGNOR Signaling Network Open Resource

More...SIGNORi		P51608

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Methyl-CpG-binding protein 2
Short name:
MeCp-2 protein
Short name:
MeCp2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MECP2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:6990, MECP2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		300005, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P51608

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000169057

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Angelman syndrome (AS)1 Publication
The disease may be caused by variants affecting the gene represented in this entry.
Disease descriptionA neurodevelopmental disorder characterized by severe motor and intellectual retardation, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, open-mouthed expression revealing the tongue.
Related information in OMIM
Intellectual developmental disorder, X-linked, syndromic 13 (MRXS13)10 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS13 patients manifest mental retardation associated with other variable features such as spasticity, episodes of manic depressive psychosis, increased tone and macroorchidism.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_017581137E → G in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61748392Ensembl.1
Natural variantiVAR_010279140A → V in MRXS13; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin. 7 PublicationsCorresponds to variant dbSNP:rs28934908Ensembl.1
Natural variantiVAR_018192167R → W in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61748420Ensembl.1
Natural variantiVAR_037664225P → L in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61749715Ensembl.1
Natural variantiVAR_018203284K → E in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61750255Ensembl.1
Natural variantiVAR_037665322P → S in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61751449Ensembl.1
Natural variantiVAR_018220399P → L in MRXS13; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs62915962Ensembl.1
Natural variantiVAR_018225453R → Q in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61753980Ensembl.1
Rett syndrome (RTT)29 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn X-linked dominant neurodevelopmental disorder, and one of the most common causes of mental retardation in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements, and develop microcephaly, seizures, autism, ataxia, mental retardation and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01818010E → Q in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754421Ensembl.1
Natural variantiVAR_02355297D → E in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754449Ensembl.1
Natural variantiVAR_01818297D → Y in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754448Ensembl.1
Natural variantiVAR_023553100L → R in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754451Ensembl.1
Natural variantiVAR_017462100L → V in RTT. 3 PublicationsCorresponds to variant dbSNP:rs28935168Ensembl.1
Natural variantiVAR_018183101P → H in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754453Ensembl.1
Natural variantiVAR_018184101P → L in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754453Ensembl.1
Natural variantiVAR_010276101P → R in RTT; also in a patient with Angelman syndrome and some typical RTT features. 2 PublicationsCorresponds to variant dbSNP:rs61754453Ensembl.1
Natural variantiVAR_023554101P → S in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754452Ensembl.1
Natural variantiVAR_018185101P → T in RTT. 1 Publication1
Natural variantiVAR_018186106R → Q in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61754457Ensembl.1
Natural variantiVAR_010272106R → W in RTT. 12 PublicationsCorresponds to variant dbSNP:rs28934907Ensembl.1
Natural variantiVAR_018187111R → G in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754459Ensembl.1
Natural variantiVAR_023555120Y → D in RTT. 1 PublicationCorresponds to variant dbSNP:rs267608454Ensembl.1
Natural variantiVAR_010277124L → F in RTT. 1 PublicationCorresponds to variant dbSNP:rs61755763Ensembl.1
Natural variantiVAR_018188128Q → P in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748383Ensembl.1
Natural variantiVAR_010273133R → C in RTT; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin. 16 PublicationsCorresponds to variant dbSNP:rs28934904Ensembl.1
Natural variantiVAR_018189133R → H in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61748389Ensembl.1
Natural variantiVAR_010278134S → C in RTT. 4 PublicationsCorresponds to variant dbSNP:rs61748390Ensembl.1
Natural variantiVAR_018190135K → E in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748391Ensembl.1
Natural variantiVAR_010280152P → R in RTT. 9 PublicationsCorresponds to variant dbSNP:rs61748404Ensembl.1
Natural variantiVAR_023556155F → I in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748406Ensembl.1
Natural variantiVAR_010274155F → S in RTT. 3 PublicationsCorresponds to variant dbSNP:rs28934905Ensembl.1
Natural variantiVAR_018191156D → G in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748407Ensembl.1
Natural variantiVAR_023557158T → A in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61748411Ensembl.1
Natural variantiVAR_010275158T → M in RTT. 17 PublicationsCorresponds to variant dbSNP:rs28934906Ensembl.1
Natural variantiVAR_023558161G → V in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748417Ensembl.1
Natural variantiVAR_018197210K → I in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749730Ensembl.1
Natural variantiVAR_018198225P → R in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749715Ensembl.1
Natural variantiVAR_078720270 – 486Missing in RTT. 2 PublicationsAdd BLAST217
Natural variantiVAR_018206302P → A in RTT. 1 PublicationCorresponds to variant dbSNP:rs61751373Ensembl.1
Natural variantiVAR_018207302P → H in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749723Ensembl.1
Natural variantiVAR_018208302P → L in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749723Ensembl.1
Natural variantiVAR_018209302P → R in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61749723Ensembl.1
Natural variantiVAR_018210305K → R in RTT; abolishes interaction with TBL1X. 3 PublicationsCorresponds to variant dbSNP:rs61751441Ensembl.1
Natural variantiVAR_010282306R → C in RTT; abolishes interaction with TBL1X and TBL1XR1. 17 PublicationsCorresponds to variant dbSNP:rs28935468Ensembl.1
Natural variantiVAR_018211306R → H in RTT. 3 PublicationsCorresponds to variant dbSNP:rs61751443Ensembl.1
Natural variantiVAR_018212322P → A in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61751449Ensembl.1
Natural variantiVAR_018213322P → L in RTT. 1 PublicationCorresponds to variant dbSNP:rs61751450Ensembl.1
Natural variantiVAR_018214344R → W in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61752361Ensembl.1
Natural variantiVAR_018218388P → S in RTT; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs61753000Ensembl.1
Autism, X-linked 3 (AUTSX3)1 Publication
The disease may be caused by variants affecting the gene represented in this entry.
Disease descriptionA complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.
Related information in OMIM
Encephalopathy, neonatal severe, due to MECP2 mutations (ENS-MECP2)1 Publication
The disease is caused by variants affecting the gene represented in this entry. The MECP2 gene is mutated in Rett syndrome, a severe neurodevelopmental disorder that almost always occurs in females. Although it was first thought that MECP2 mutations causing Rett syndrome were lethal in males, later reports identified a severe neonatal encephalopathy in surviving male sibs of patients with Rett syndrome. Additional reports have confirmed a severe phenotype in males with Rett syndrome-associated MECP2 mutations.
Disease descriptionA neurodevelopmental disorder characterized by severe neonatal encephalopathy, developmental delay, mental retardation, microcephaly, seizures. Additional features include respiratory insufficiency and central hypoventilation, gastroesophageal reflux, axial hypotonia, hyperreflexia and dyskinetic movements.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017463428G → S in ENS-MECP2; uncertain pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs61753971Ensembl.1
Intellectual developmental disorder, X-linked, syndromic, Lubs type (MRXSL)1 Publication
The disease is caused by variants affecting the gene represented in this entry. Increased dosage of MECP2 due to gene duplication appears to be responsible for the mental retardation phenotype.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSL patients manifest mental retardation associated with variable features. They include swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections, hypotonia, mild myopathy and characteristic facies such as downslanting palpebral fissures, hypertelorism and a short nose with a low nasal bridge.
Related information in OMIM

Keywords - Diseasei

Autism, Autism spectrum disorder, Disease variant, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		4204

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		MECP2

MalaCards human disease database

More...MalaCardsi		MECP2
MIMi105830, phenotype
300055, phenotype
300260, phenotype
300496, phenotype
300673, phenotype
312750, phenotype

Open Targets

More...OpenTargetsi		ENSG00000169057

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		3095, Atypical Rett syndrome
106, NON RARE IN EUROPE: Autism
1762, Proximal Xq28 duplication syndrome
778, Rett syndrome
209370, Severe neonatal-onset encephalopathy with microcephaly
536, Systemic lupus erythematosus
3077, X-linked intellectual disability-psychosis-macroorchidism syndrome
777, X-linked non-syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30729

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P51608, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3638346

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MECP2

Domain mapping of disease mutations (DMDM)

More...DMDMi		1708973

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000963451 – 486Methyl-CpG-binding protein 2Add BLAST486

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei13PhosphoserineBy similarity1
Modified residuei80PhosphoserineCombined sources1
Modified residuei116PhosphoserineCombined sources1
Modified residuei162Omega-N-methylarginineBy similarity1
Modified residuei216PhosphoserineCombined sources1
Modified residuei229PhosphoserineCombined sources1
Modified residuei321N6-acetyllysineBy similarity1
Modified residuei423PhosphoserineBy similarity1
Modified residuei426PhosphoserineCombined sources1
Modified residuei449N6-acetyllysineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated on Ser-423 in brain upon synaptic activity, which attenuates its repressor activity and seems to regulate dendritic growth and spine maturation.By similarity

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P51608

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P51608

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P51608

MaxQB - The MaxQuant DataBase

More...MaxQBi		P51608

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P51608

PeptideAtlas

More...PeptideAtlasi		P51608

PRoteomics IDEntifications database

More...PRIDEi		P51608

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		56344 [P51608-1]
56345 [P51608-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P51608, 2 sites, 1 O-linked glycan (2 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P51608

MetOSite database of methionine sulfoxide sites

More...MetOSitei		P51608

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P51608

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Present in all adult somatic tissues tested.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000169057, Expressed in cerebellar vermis and 231 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P51608, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P51608, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000169057, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with FNBP3 (By similarity).

Interacts with CDKL5 (PubMed:15917271).

Interacts with ATRX; MECP2 recruits ATRX to pericentric heterochromatin in neuronal cells (By similarity).

Interacts with NCOR2 (By similarity).

Interacts with TBL1XR1; bridges interaction between MECP2 and NCOR1 (PubMed:28348241).

Interacts with TBL1X; recruits TBL1X to the heterochromatin foci (PubMed:28348241).

By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

P51608
With#Exp.IntAct
ABHD17C [Q6PCB6]3EBI-1189067,EBI-22011868
AP2B1 - isoform 2 [P63010-2]3EBI-1189067,EBI-11529439
ASB3 - isoform 3 [Q9Y575-3]3EBI-1189067,EBI-14199987
ATP5IF1 [Q9UII2]3EBI-1189067,EBI-718459
BRK1 [Q8WUW1]3EBI-1189067,EBI-2837444
COPS3 [Q9UNS2]3EBI-1189067,EBI-350590
CTNNB1 [P35222]3EBI-1189067,EBI-491549
CYFIP1 [Q7L576]3EBI-1189067,EBI-1048143
DDX20 [Q9UHI6]3EBI-1189067,EBI-347658
DEAF1 [O75398]3EBI-1189067,EBI-718185
EYA3 [Q99504]3EBI-1189067,EBI-9089567
FOXR1 [Q6PIV2]3EBI-1189067,EBI-10253815
HIPK2 [Q9H2X6]2EBI-1189067,EBI-348345
HSPB1 [P04792]3EBI-1189067,EBI-352682
HTT [P42858]18EBI-1189067,EBI-466029
IQSEC1 - isoform 2 [Q6DN90-2]3EBI-1189067,EBI-21911304
KAT5 - isoform 1 [Q92993-2]3EBI-1189067,EBI-20795332
KLHL20 [Q9Y2M5]3EBI-1189067,EBI-714379
KRTAP8-1 [Q8IUC2]3EBI-1189067,EBI-10261141
LYN [P07948]3EBI-1189067,EBI-79452
MAX [P61244]2EBI-1189067,EBI-751711
MGARP [Q8TDB4]3EBI-1189067,EBI-4397720
MSH5 - isoform 2 [O43196-2]3EBI-1189067,EBI-25844576
NAP1L3 [Q99457]3EBI-1189067,EBI-8645631
NEFL [P07196]3EBI-1189067,EBI-475646
OPTN [Q96CV9]3EBI-1189067,EBI-748974
OTUB1 [Q96FW1]3EBI-1189067,EBI-1058491
OTUD7B - isoform 2 [Q6GQQ9-2]3EBI-1189067,EBI-25830200
PIAS1 [O75925]3EBI-1189067,EBI-629434
PRPS1 [P60891]3EBI-1189067,EBI-749195
RAB38 [P57729]3EBI-1189067,EBI-6552718
RASSF1 - isoform C [Q9NS23-4]3EBI-1189067,EBI-438710
RASSF5 - isoform 2 [Q8WWW0-2]3EBI-1189067,EBI-960502
RNF112 [Q9ULX5]3EBI-1189067,EBI-25829984
RNF183 [Q96D59]3EBI-1189067,EBI-743938
SIN3A [Q96ST3]2EBI-1189067,EBI-347218
SMARCA2 [P51531]4EBI-1189067,EBI-679562
SMARCB1 [Q12824]3EBI-1189067,EBI-358419
SMN2 - isoform SMN-delta7 [Q16637-3]3EBI-1189067,EBI-395447
SPATA12 [Q7Z6I5]3EBI-1189067,EBI-10696971
STX11 [O75558]3EBI-1189067,EBI-714135
TRIM69 - isoform 2 [Q86WT6-2]3EBI-1189067,EBI-11525489
TRIM74 - isoform 2 [Q86UV6-2]3EBI-1189067,EBI-10259086
TXN [P10599]3EBI-1189067,EBI-594644
WFS1 [O76024]3EBI-1189067,EBI-720609
Hipk2 [Q9QZR5] from Mus musculus.3EBI-1189067,EBI-366905
Ncor1 [Q60974] from Mus musculus.4EBI-1189067,EBI-349004
Ncor2 [Q9WU42] from Mus musculus.4EBI-1189067,EBI-6673326
Tbl1x [Q9QXE7] from Mus musculus.3EBI-1189067,EBI-8821270
Tbl1xr1 [Q8BHJ5] from Mus musculus.4EBI-1189067,EBI-1216384
Isoform A [P51608-1]
With#Exp.IntAct
Dnmt3a [O88508] from Mus musculus.10EBI-26687319,EBI-995154

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110368, 237 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P51608

Database of interacting proteins

More...DIPi		DIP-39983N

Protein interaction database and analysis system

More...IntActi		P51608, 187 interactors

Molecular INTeraction database

More...MINTi		P51608

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000395535

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P51608

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P51608, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1486
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Biological Magnetic Resonance Data Bank

More...BMRBi		P51608

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P51608

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P51608

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini90 – 162MBDPROSITE-ProRule annotationAdd BLAST73

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 119DisorderedSequence analysisAdd BLAST119
Regioni147 – 275DisorderedSequence analysisAdd BLAST129
Regioni269 – 309Interaction with NCOR2By similarityAdd BLAST41
Regioni285 – 309Interaction with TBL1XR1By similarityAdd BLAST25
Regioni324 – 486DisorderedSequence analysisAdd BLAST163

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi8 – 49Basic and acidic residuesSequence analysisAdd BLAST42
Compositional biasi83 – 109Basic and acidic residuesSequence analysisAdd BLAST27
Compositional biasi251 – 267Basic and acidic residuesSequence analysisAdd BLAST17
Compositional biasi378 – 400Pro residuesSequence analysisAdd BLAST23
Compositional biasi448 – 486Basic and acidic residuesSequence analysisAdd BLAST39

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4161, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00530000063687

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_045066_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P51608

Identification of Orthologs from Complete Genome Data

More...OMAi		CTKEPAK

Database of Orthologous Groups

More...OrthoDBi		912212at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P51608

TreeFam database of animal gene trees

More...TreeFami		TF332974

Family and domain databases

Database of protein disorder

More...DisProti		DP00539

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR016177, DNA-bd_dom_sf
IPR017353, Me_CpG-bd_MeCP2
IPR045138, MeCP2/MBD4
IPR001739, Methyl_CpG_DNA-bd

The PANTHER Classification System

More...PANTHERi		PTHR15074, PTHR15074, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01429, MBD, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF038006, Methyl_CpG_bd_MeCP2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00391, MBD, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF54171, SSF54171, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50982, MBD, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform A (identifier: P51608-1) [UniParc]FASTAAdd to basket
Also known as: Beta

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MVAGMLGLRE EKSEDQDLQG LKDKPLKFKK VKKDKKEEKE GKHEPVQPSA 
        60         70         80         90        100
HHSAEPAEAG KAETSEGSGS APAVPEASAS PKQRRSIIRD RGPMYDDPTL 
       110        120        130        140        150
PEGWTRKLKQ RKSGRSAGKY DVYLINPQGK AFRSKVELIA YFEKVGDTSL 
       160        170        180        190        200
DPNDFDFTVT GRGSPSRREQ KPPKKPKSPK APGTGRGRGR PKGSGTTRPK 
       210        220        230        240        250
AATSEGVQVK RVLEKSPGKL LVKMPFQTSP GGKAEGGGAT TSTQVMVIKR 
       260        270        280        290        300
PGRKRKAEAD PQAIPKKRGR KPGSVVAAAA AEAKKKAVKE SSIRSVQETV 
       310        320        330        340        350
LPIKKRKTRE TVSIEVKEVV KPLLVSTLGE KSGKGLKTCK SPGRKSKESS 
       360        370        380        390        400
PKGRSSSASS PPKKEHHHHH HHSESPKAPV PLLPPLPPPP PEPESSEDPT 
       410        420        430        440        450
SPPEPQDLSS SVCKEEKMPR GGSLESDGCP KEPAKTQPAV ATAATAAEKY 
       460        470        480 
KHRGEGERKD IVSSSMPRPN REEPVDSRTP VTERVS
Length:486
Mass (Da):52,441
Last modified:October 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iEB6A33233AEDA566
GO
Isoform B (identifier: P51608-2) [UniParc]FASTAAdd to basket
Also known as: Alpha

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: MVAGMLGLR → MAAAAAAAPSGGGGGGEEERL

Note: Ten times higher expression levels than isoform A in brain.Curated
Show »
Length:498
Mass (Da):53,323
Checksum:i443ECB3D5EA4DAB8
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B5MCB4B5MCB4_HUMAN
Methyl-CpG-binding protein 2
MECP2
184Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SFX7A0A0D9SFX7_HUMAN
Methyl-CpG-binding protein 2
MECP2
172Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JH89C9JH89_HUMAN
Methyl-CpG-binding protein 2
MECP2
49Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SEX1A0A0D9SEX1_HUMAN
Methyl-CpG-binding protein 2
MECP2
41Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTV0A0A1B0GTV0_HUMAN
Methyl-CpG-binding protein 2
MECP2
53Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PF93A0A6Q8PF93_HUMAN
Methyl-CpG-binding protein 2
MECP2
61Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PHQ3A0A6Q8PHQ3_HUMAN
Methyl-CpG-binding protein 2
MECP2
58Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7BY72H7BY72_HUMAN
Methyl-CpG-binding protein 2
MECP2
37Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence CAD97991 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti72 – 75PAVP → RLC in CAA61599 (PubMed:8672133).Curated4
Sequence conflicti290E → G in CAA68001 (PubMed:8976388).Curated1
Sequence conflicti466M → V in CAD97991 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01818010E → Q in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754421Ensembl.1
Natural variantiVAR_01818186S → C1 PublicationCorresponds to variant dbSNP:rs61754445Ensembl.1
Natural variantiVAR_02355297D → E in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754449Ensembl.1
Natural variantiVAR_01818297D → Y in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754448Ensembl.1
Natural variantiVAR_023553100L → R in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754451Ensembl.1
Natural variantiVAR_017462100L → V in RTT. 3 PublicationsCorresponds to variant dbSNP:rs28935168Ensembl.1
Natural variantiVAR_018183101P → H in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754453Ensembl.1
Natural variantiVAR_018184101P → L in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754453Ensembl.1
Natural variantiVAR_010276101P → R in RTT; also in a patient with Angelman syndrome and some typical RTT features. 2 PublicationsCorresponds to variant dbSNP:rs61754453Ensembl.1
Natural variantiVAR_023554101P → S in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754452Ensembl.1
Natural variantiVAR_018185101P → T in RTT. 1 Publication1
Natural variantiVAR_018186106R → Q in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61754457Ensembl.1
Natural variantiVAR_010272106R → W in RTT. 12 PublicationsCorresponds to variant dbSNP:rs28934907Ensembl.1
Natural variantiVAR_018187111R → G in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754459Ensembl.1
Natural variantiVAR_023555120Y → D in RTT. 1 PublicationCorresponds to variant dbSNP:rs267608454Ensembl.1
Natural variantiVAR_010277124L → F in RTT. 1 PublicationCorresponds to variant dbSNP:rs61755763Ensembl.1
Natural variantiVAR_018188128Q → P in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748383Ensembl.1
Natural variantiVAR_010273133R → C in RTT; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin. 16 PublicationsCorresponds to variant dbSNP:rs28934904Ensembl.1
Natural variantiVAR_018189133R → H in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61748389Ensembl.1
Natural variantiVAR_010278134S → C in RTT. 4 PublicationsCorresponds to variant dbSNP:rs61748390Ensembl.1
Natural variantiVAR_018190135K → E in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748391Ensembl.1
Natural variantiVAR_017581137E → G in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61748392Ensembl.1
Natural variantiVAR_010279140A → V in MRXS13; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin. 7 PublicationsCorresponds to variant dbSNP:rs28934908Ensembl.1
Natural variantiVAR_010280152P → R in RTT. 9 PublicationsCorresponds to variant dbSNP:rs61748404Ensembl.1
Natural variantiVAR_023556155F → I in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748406Ensembl.1
Natural variantiVAR_010274155F → S in RTT. 3 PublicationsCorresponds to variant dbSNP:rs28934905Ensembl.1
Natural variantiVAR_018191156D → G in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748407Ensembl.1
Natural variantiVAR_023557158T → A in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61748411Ensembl.1
Natural variantiVAR_010275158T → M in RTT. 17 PublicationsCorresponds to variant dbSNP:rs28934906Ensembl.1
Natural variantiVAR_023558161G → V in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748417Ensembl.1
Natural variantiVAR_018192167R → W in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61748420Ensembl.1
Natural variantiVAR_018193181A → V1 PublicationCorresponds to variant dbSNP:rs61749705Ensembl.1
Natural variantiVAR_018194196T → S1 PublicationCorresponds to variant dbSNP:rs61749713Ensembl.1
Natural variantiVAR_018195197T → M2 PublicationsCorresponds to variant dbSNP:rs61749714Ensembl.1
Natural variantiVAR_010281201A → V2 PublicationsCorresponds to variant dbSNP:rs61748381Ensembl.1
Natural variantiVAR_018196203T → M2 PublicationsCorresponds to variant dbSNP:rs61749720Ensembl.1
Natural variantiVAR_018197210K → I in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749730Ensembl.1
Natural variantiVAR_037664225P → L in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61749715Ensembl.1
Natural variantiVAR_018198225P → R in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749715Ensembl.1
Natural variantiVAR_018199228T → S1 PublicationCorresponds to variant dbSNP:rs61749738Ensembl.1
Natural variantiVAR_018200229S → L1 PublicationCorresponds to variant dbSNP:rs61749739Ensembl.1
Natural variantiVAR_018201232G → A1 PublicationCorresponds to variant dbSNP:rs61748422Ensembl.1
Natural variantiVAR_018202251P → L1 PublicationCorresponds to variant dbSNP:rs61750229Ensembl.1
Natural variantiVAR_078720270 – 486Missing in RTT. 2 PublicationsAdd BLAST217
Natural variantiVAR_018203284K → E in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61750255Ensembl.1
Natural variantiVAR_018204287A → P1 PublicationCorresponds to variant dbSNP:rs61750257Ensembl.1
Natural variantiVAR_018205291S → A1 PublicationCorresponds to variant dbSNP:rs61751360Ensembl.1
Natural variantiVAR_018206302P → A in RTT. 1 PublicationCorresponds to variant dbSNP:rs61751373Ensembl.1
Natural variantiVAR_018207302P → H in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749723Ensembl.1
Natural variantiVAR_018208302P → L in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749723Ensembl.1
Natural variantiVAR_018209302P → R in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61749723Ensembl.1
Natural variantiVAR_078221305K → N Probable disease-associated variant found in a patient with drug-resistant epilepsy with intellectual disability, parkinsonism and other neurologic symptoms. 1 PublicationCorresponds to variant dbSNP:rs1057519543Ensembl.1
Natural variantiVAR_018210305K → R in RTT; abolishes interaction with TBL1X. 3 PublicationsCorresponds to variant dbSNP:rs61751441Ensembl.1
Natural variantiVAR_010282306R → C in RTT; abolishes interaction with TBL1X and TBL1XR1. 17 Publications