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UniProtKB - P51608 (MECP2_HUMAN)

Protein

Methyl-CpG-binding protein 2

Gene

MECP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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
DNA bindingi185 – 197A.T hook 1Add BLAST13
DNA bindingi265 – 277A.T hook 2Add BLAST13

GO - Molecular functioni

  • DNA binding Source: GO_Central
  • double-stranded methylated DNA binding Source: MGI
  • methyl-CpG binding Source: GO_Central
  • mRNA binding Source: Ensembl
  • protein domain specific binding Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB
  • proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific Source: Ensembl
  • RNA binding Source: UniProtKB
  • siRNA binding Source: Ensembl
  • transcription corepressor activity Source: ProtInc
  • transcription factor binding Source: Ensembl
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SignaLinkiP51608
SIGNORiP51608

Names & Taxonomyi

Protein namesi
Recommended name:
Methyl-CpG-binding protein 2
Short name:
MeCp-2 protein
Short name:
MeCp2
Gene namesi
Name:MECP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000169057.19
HGNCiHGNC:6990 MECP2
MIMi300005 gene
neXtProtiNX_P51608

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Angelman syndrome (AS)1 Publication
The disease may be caused by mutations 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.
See also OMIM:105830
Mental retardation, X-linked, syndromic, 13 (MRXS13)10 Publications
The disease is caused by mutations 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.
See also OMIM:300055
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017581137E → G in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61748392EnsemblClinVar.1
Natural variantiVAR_010279140A → V in MRXS13; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin. 7 PublicationsCorresponds to variant dbSNP:rs28934908EnsemblClinVar.1
Natural variantiVAR_018192167R → W in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61748420EnsemblClinVar.1
Natural variantiVAR_037664225P → L in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61749715EnsemblClinVar.1
Natural variantiVAR_018203284K → E in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61750255EnsemblClinVar.1
Natural variantiVAR_037665322P → S in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61751449EnsemblClinVar.1
Natural variantiVAR_018220399P → L in MRXS13; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs62915962EnsemblClinVar.1
Natural variantiVAR_018225453R → Q in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61753980EnsemblClinVar.1
Rett syndrome (RTT)28 Publications
The disease is caused by mutations 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.
See also OMIM:312750
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01818010E → Q in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754421EnsemblClinVar.1
Natural variantiVAR_02355297D → E in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754449EnsemblClinVar.1
Natural variantiVAR_01818297D → Y in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754448EnsemblClinVar.1
Natural variantiVAR_023553100L → R in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754451EnsemblClinVar.1
Natural variantiVAR_017462100L → V in RTT. 3 PublicationsCorresponds to variant dbSNP:rs28935168EnsemblClinVar.1
Natural variantiVAR_018183101P → H in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754453EnsemblClinVar.1
Natural variantiVAR_018184101P → L in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754453EnsemblClinVar.1
Natural variantiVAR_010276101P → R in RTT; also in a patient with Angelman syndrome and some typical RTT features. 2 PublicationsCorresponds to variant dbSNP:rs61754453EnsemblClinVar.1
Natural variantiVAR_023554101P → S in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754452EnsemblClinVar.1
Natural variantiVAR_018185101P → T in RTT. 1 Publication1
Natural variantiVAR_018186106R → Q in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61754457EnsemblClinVar.1
Natural variantiVAR_010272106R → W in RTT. 12 PublicationsCorresponds to variant dbSNP:rs28934907EnsemblClinVar.1
Natural variantiVAR_018187111R → G in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754459EnsemblClinVar.1
Natural variantiVAR_023555120Y → D in RTT. 1 PublicationCorresponds to variant dbSNP:rs267608454EnsemblClinVar.1
Natural variantiVAR_010277124L → F in RTT. 1 PublicationCorresponds to variant dbSNP:rs61755763EnsemblClinVar.1
Natural variantiVAR_018188128Q → P in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748383EnsemblClinVar.1
Natural variantiVAR_010273133R → C in RTT; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin. 16 PublicationsCorresponds to variant dbSNP:rs28934904EnsemblClinVar.1
Natural variantiVAR_018189133R → H in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61748389EnsemblClinVar.1
Natural variantiVAR_010278134S → C in RTT. 4 PublicationsCorresponds to variant dbSNP:rs61748390EnsemblClinVar.1
Natural variantiVAR_018190135K → E in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748391EnsemblClinVar.1
Natural variantiVAR_010280152P → R in RTT. 9 PublicationsCorresponds to variant dbSNP:rs61748404EnsemblClinVar.1
Natural variantiVAR_023556155F → I in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748406EnsemblClinVar.1
Natural variantiVAR_010274155F → S in RTT. 3 PublicationsCorresponds to variant dbSNP:rs28934905EnsemblClinVar.1
Natural variantiVAR_018191156D → G in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748407EnsemblClinVar.1
Natural variantiVAR_023557158T → A in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61748411EnsemblClinVar.1
Natural variantiVAR_010275158T → M in RTT. 17 PublicationsCorresponds to variant dbSNP:rs28934906EnsemblClinVar.1
Natural variantiVAR_023558161G → V in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748417EnsemblClinVar.1
Natural variantiVAR_018197210K → I in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749730EnsemblClinVar.1
Natural variantiVAR_018198225P → R in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749715EnsemblClinVar.1
Natural variantiVAR_078720270 – 486Missing in RTT. 2 PublicationsAdd BLAST217
Natural variantiVAR_018206302P → A in RTT. 1 PublicationCorresponds to variant dbSNP:rs61751373EnsemblClinVar.1
Natural variantiVAR_018207302P → H in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749723EnsemblClinVar.1
Natural variantiVAR_018208302P → L in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749723EnsemblClinVar.1
Natural variantiVAR_018209302P → R in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61749723EnsemblClinVar.1
Natural variantiVAR_018210305K → R in RTT; abolishes interaction with TBL1X. 3 PublicationsCorresponds to variant dbSNP:rs61751441EnsemblClinVar.1
Natural variantiVAR_010282306R → C in RTT; abolishes interaction with TBL1X and TBL1XR1. 17 PublicationsCorresponds to variant dbSNP:rs28935468EnsemblClinVar.1
Natural variantiVAR_018211306R → H in RTT. 3 PublicationsCorresponds to variant dbSNP:rs61751443EnsemblClinVar.1
Natural variantiVAR_018212322P → A in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61751449EnsemblClinVar.1
Natural variantiVAR_018213322P → L in RTT. 1 PublicationCorresponds to variant dbSNP:rs61751450EnsemblClinVar.1
Natural variantiVAR_018214344R → W in RTT. 1 PublicationCorresponds to variant dbSNP:rs61752361EnsemblClinVar.1
Natural variantiVAR_018218388P → S in RTT; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs61753000EnsemblClinVar.1
Autism, X-linked 3 (AUTSX3)1 Publication
The disease may be caused by mutations 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.
See also OMIM:300496
Encephalopathy, neonatal severe, due to MECP2 mutations (ENS-MECP2)1 Publication
The disease is caused by mutations 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.
See also OMIM:300673
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017463428G → S in ENS-MECP2; uncertain pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs61753971EnsemblClinVar.1
Mental retardation, X-linked, syndromic, Lubs type (MRXSL)1 Publication
The disease is caused by mutations 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.
See also OMIM:300260

Keywords - Diseasei

Autism, Autism spectrum disorder, Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi4204
GeneReviewsiMECP2
MalaCardsiMECP2
MIMi105830 phenotype
300055 phenotype
300260 phenotype
300496 phenotype
300673 phenotype
312750 phenotype
OpenTargetsiENSG00000169057
Orphaneti3095 Atypical Rett syndrome
106 NON RARE IN EUROPE: Autism
536 NON RARE IN EUROPE: Systemic lupus erythematosus
778 Rett syndrome
209370 Severe neonatal-onset encephalopathy with microcephaly
1762 Trisomy Xq28
3077 X-linked intellectual disability-psychosis-macroorchidism syndrome
777 X-linked non-syndromic intellectual disability
PharmGKBiPA30729

Chemistry databases

ChEMBLiCHEMBL3638346

Polymorphism and mutation databases

BioMutaiMECP2
DMDMi1708973

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000963451 – 486Methyl-CpG-binding protein 2Add BLAST486

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

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

EPDiP51608
MaxQBiP51608
PaxDbiP51608
PeptideAtlasiP51608
PRIDEiP51608
ProteomicsDBi56344
56345 [P51608-2]

PTM databases

iPTMnetiP51608
PhosphoSitePlusiP51608

Expressioni

Tissue specificityi

Present in all adult somatic tissues tested.

Gene expression databases

BgeeiENSG00000169057 Expressed in 220 organ(s), highest expression level in cerebellar vermis
CleanExiHS_MECP2
ExpressionAtlasiP51608 baseline and differential
GenevisibleiP51608 HS

Organism-specific databases

HPAiCAB037264
HPA000593
HPA001341

Interactioni

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; recuits TBL1X to the heterochromatin foci (PubMed:28348241).By similarity2 Publications

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi110368, 169 interactors
CORUMiP51608
DIPiDIP-39983N
IntActiP51608, 39 interactors
MINTiP51608
STRINGi9606.ENSP00000395535

Chemistry databases

BindingDBiP51608

Structurei

Secondary structure

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

3D structure databases

DisProtiDP00539
ProteinModelPortaliP51608
SMRiP51608
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP51608

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini90 – 162MBDPROSITE-ProRule annotationAdd BLAST73

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni269 – 309Interaction with NCOR2By similarityAdd BLAST41
Regioni285 – 309Interaction with TBL1XR1By similarityAdd BLAST25

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi366 – 372His-rich7
Compositional biasi376 – 405Pro-richAdd BLAST30

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG4161 Eukaryota
ENOG41126JX LUCA
GeneTreeiENSGT00530000063687
HOGENOMiHOG000015809
HOVERGENiHBG052445
InParanoidiP51608
KOiK11588
OMAiKMPRAGS
PhylomeDBiP51608
TreeFamiTF332974

Family and domain databases

InterProiView protein in InterPro
IPR016177 DNA-bd_dom_sf
IPR017353 Me_CpG-bd_MeCP2
IPR001739 Methyl_CpG_DNA-bd
PANTHERiPTHR15074:SF4 PTHR15074:SF4, 1 hit
PfamiView protein in Pfam
PF01429 MBD, 1 hit
PIRSFiPIRSF038006 Methyl_CpG_bd_MeCP2, 1 hit
SMARTiView protein in SMART
SM00391 MBD, 1 hit
SUPFAMiSSF54171 SSF54171, 1 hit
PROSITEiView protein in PROSITE
PS50982 MBD, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 9 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 'canonical' 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
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.
Show »
Length:498
Mass (Da):53,323
Checksum:i443ECB3D5EA4DAB8
GO

Computationally mapped potential isoform sequencesi

There are 9 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:
A0A087WVW7A0A087WVW7_HUMAN
Methyl-CpG-binding protein 2
MECP2
168Annotation score:
A0A087X1U4A0A087X1U4_HUMAN
Methyl-CpG-binding protein 2
MECP2
324Annotation score:
A0A0D9SFX7A0A0D9SFX7_HUMAN
Methyl-CpG-binding protein 2
MECP2
172Annotation score:
I6LM39I6LM39_HUMAN
Methyl-CpG-binding protein 2
MECP2
271Annotation score:
C9JH89C9JH89_HUMAN
Methyl-CpG-binding protein 2
MECP2
49Annotation score:
A0A1B0GTV0A0A1B0GTV0_HUMAN
Methyl-CpG-binding protein 2
MECP2
53Annotation score:
H7BY72H7BY72_HUMAN
Methyl-CpG-binding protein 2
MECP2
37Annotation score:
A0A0D9SEX1A0A0D9SEX1_HUMAN
Methyl-CpG-binding protein 2
MECP2
41Annotation score:

Sequence cautioni

The sequence CAD97991 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:rs61754421EnsemblClinVar.1
Natural variantiVAR_01818186S → C1 PublicationCorresponds to variant dbSNP:rs61754445EnsemblClinVar.1
Natural variantiVAR_02355297D → E in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754449EnsemblClinVar.1
Natural variantiVAR_01818297D → Y in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754448EnsemblClinVar.1
Natural variantiVAR_023553100L → R in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754451EnsemblClinVar.1
Natural variantiVAR_017462100L → V in RTT. 3 PublicationsCorresponds to variant dbSNP:rs28935168EnsemblClinVar.1
Natural variantiVAR_018183101P → H in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754453EnsemblClinVar.1
Natural variantiVAR_018184101P → L in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754453EnsemblClinVar.1
Natural variantiVAR_010276101P → R in RTT; also in a patient with Angelman syndrome and some typical RTT features. 2 PublicationsCorresponds to variant dbSNP:rs61754453EnsemblClinVar.1
Natural variantiVAR_023554101P → S in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754452EnsemblClinVar.1
Natural variantiVAR_018185101P → T in RTT. 1 Publication1
Natural variantiVAR_018186106R → Q in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61754457EnsemblClinVar.1
Natural variantiVAR_010272106R → W in RTT. 12 PublicationsCorresponds to variant dbSNP:rs28934907EnsemblClinVar.1
Natural variantiVAR_018187111R → G in RTT. 1 PublicationCorresponds to variant dbSNP:rs61754459EnsemblClinVar.1
Natural variantiVAR_023555120Y → D in RTT. 1 PublicationCorresponds to variant dbSNP:rs267608454EnsemblClinVar.1
Natural variantiVAR_010277124L → F in RTT. 1 PublicationCorresponds to variant dbSNP:rs61755763EnsemblClinVar.1
Natural variantiVAR_018188128Q → P in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748383EnsemblClinVar.1
Natural variantiVAR_010273133R → C in RTT; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin. 16 PublicationsCorresponds to variant dbSNP:rs28934904EnsemblClinVar.1
Natural variantiVAR_018189133R → H in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61748389EnsemblClinVar.1
Natural variantiVAR_010278134S → C in RTT. 4 PublicationsCorresponds to variant dbSNP:rs61748390EnsemblClinVar.1
Natural variantiVAR_018190135K → E in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748391EnsemblClinVar.1
Natural variantiVAR_017581137E → G in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61748392EnsemblClinVar.1
Natural variantiVAR_010279140A → V in MRXS13; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin. 7 PublicationsCorresponds to variant dbSNP:rs28934908EnsemblClinVar.1
Natural variantiVAR_010280152P → R in RTT. 9 PublicationsCorresponds to variant dbSNP:rs61748404EnsemblClinVar.1
Natural variantiVAR_023556155F → I in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748406EnsemblClinVar.1
Natural variantiVAR_010274155F → S in RTT. 3 PublicationsCorresponds to variant dbSNP:rs28934905EnsemblClinVar.1
Natural variantiVAR_018191156D → G in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748407EnsemblClinVar.1
Natural variantiVAR_023557158T → A in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61748411EnsemblClinVar.1
Natural variantiVAR_010275158T → M in RTT. 17 PublicationsCorresponds to variant dbSNP:rs28934906EnsemblClinVar.1
Natural variantiVAR_023558161G → V in RTT. 1 PublicationCorresponds to variant dbSNP:rs61748417EnsemblClinVar.1
Natural variantiVAR_018192167R → W in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61748420EnsemblClinVar.1
Natural variantiVAR_018193181A → V1 PublicationCorresponds to variant dbSNP:rs61749705EnsemblClinVar.1
Natural variantiVAR_018194196T → S1 PublicationCorresponds to variant dbSNP:rs61749713EnsemblClinVar.1
Natural variantiVAR_018195197T → M2 PublicationsCorresponds to variant dbSNP:rs61749714EnsemblClinVar.1
Natural variantiVAR_010281201A → V2 PublicationsCorresponds to variant dbSNP:rs61748381EnsemblClinVar.1
Natural variantiVAR_018196203T → M2 PublicationsCorresponds to variant dbSNP:rs61749720EnsemblClinVar.1
Natural variantiVAR_018197210K → I in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749730EnsemblClinVar.1
Natural variantiVAR_037664225P → L in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61749715EnsemblClinVar.1
Natural variantiVAR_018198225P → R in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749715EnsemblClinVar.1
Natural variantiVAR_018199228T → S1 PublicationCorresponds to variant dbSNP:rs61749738EnsemblClinVar.1
Natural variantiVAR_018200229S → L1 PublicationCorresponds to variant dbSNP:rs61749739EnsemblClinVar.1
Natural variantiVAR_018201232G → A1 PublicationCorresponds to variant dbSNP:rs61748422EnsemblClinVar.1
Natural variantiVAR_018202251P → L1 PublicationCorresponds to variant dbSNP:rs61750229EnsemblClinVar.1
Natural variantiVAR_078720270 – 486Missing in RTT. 2 PublicationsAdd BLAST217
Natural variantiVAR_018203284K → E in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61750255EnsemblClinVar.1
Natural variantiVAR_018204287A → P1 PublicationCorresponds to variant dbSNP:rs61750257EnsemblClinVar.1
Natural variantiVAR_018205291S → A1 PublicationCorresponds to variant dbSNP:rs61751360EnsemblClinVar.1
Natural variantiVAR_018206302P → A in RTT. 1 PublicationCorresponds to variant dbSNP:rs61751373EnsemblClinVar.1
Natural variantiVAR_018207302P → H in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749723EnsemblClinVar.1
Natural variantiVAR_018208302P → L in RTT. 1 PublicationCorresponds to variant dbSNP:rs61749723EnsemblClinVar.1
Natural variantiVAR_018209302P → R in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61749723EnsemblClinVar.1
Natural variantiVAR_078221305K → N Probable disease-associated mutation 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:rs61751441EnsemblClinVar.1
Natural variantiVAR_010282306R → C in RTT; abolishes interaction with TBL1X and TBL1XR1. 17 PublicationsCorresponds to variant dbSNP:rs28935468EnsemblClinVar.1
Natural variantiVAR_018211306R → H in RTT. 3 PublicationsCorresponds to variant dbSNP:rs61751443EnsemblClinVar.1
Natural variantiVAR_018212322P → A in RTT. 2 PublicationsCorresponds to variant dbSNP:rs61751449EnsemblClinVar.1
Natural variantiVAR_018213322P → L in RTT. 1 PublicationCorresponds to variant dbSNP:rs61751450EnsemblClinVar.1
Natural variantiVAR_037665322P → S in MRXS13. 1 PublicationCorresponds to variant dbSNP:rs61751449EnsemblClinVar.1
Natural variantiVAR_018214344R → W in RTT. 1 PublicationCorresponds to variant dbSNP:rs61752361EnsemblClinVar.1
Natural variantiVAR_018215359S → P1 PublicationCorresponds to variant dbSNP:rs61752371EnsemblClinVar.1
Natural variantiVAR_018216376P → S4 Publications