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UniProtKB/Swiss-Prot P51608: Variant p.Ser134Cys

Methyl-CpG-binding protein 2
Gene: MECP2
Chromosomal location: Xq28
Variant information

Variant position:  134
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Serine (S) to Cysteine (C) at position 134 (S134C, p.Ser134Cys).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from small size and polar (S) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Rett syndrome (RTT) [MIM:312750]: An 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. {ECO:0000269|PubMed:10508514, ECO:0000269|PubMed:10577905, ECO:0000269|PubMed:10745042, ECO:0000269|PubMed:10767337, ECO:0000269|PubMed:10814719, ECO:0000269|PubMed:10944854, ECO:0000269|PubMed:10991688, ECO:0000269|PubMed:10991689, ECO:0000269|PubMed:11055898, ECO:0000269|PubMed:11241840, ECO:0000269|PubMed:11269512, ECO:0000269|PubMed:11283202, ECO:0000269|PubMed:11376998, ECO:0000269|PubMed:11402105, ECO:0000269|PubMed:11706982, ECO:0000269|PubMed:11738883, ECO:0000269|PubMed:12161600, ECO:0000269|PubMed:12567420, ECO:0000269|PubMed:12966522, ECO:0000269|PubMed:12966523, ECO:0000269|PubMed:15034579, ECO:0000269|PubMed:15057977, ECO:0000269|PubMed:17296936, ECO:0000269|PubMed:23662938, ECO:0000269|PubMed:25818041, ECO:0000269|PubMed:26993267, ECO:0000269|PubMed:27864847, ECO:0000269|PubMed:28348241, ECO:0000269|PubMed:28709814}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In RTT.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  134
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  486
The length of the canonical sequence.

Location on the sequence:   GRSAGKYDVYLINPQGKAFR  S KVELIAYFEKVGDTSLDPND
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         GRSAGKYDVYLINPQGKAFRSKVELIAYFEKVGDTSLDPND

Mouse                         GRSAGKYDVYLINPQGKAFRSKVELIAYFEKVGDTSLDPND

Rat                           GRSAGKYDVYLINPQGKAFRSKVELIAYFEKVGDTSLDPND

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Chain 1 – 486 Methyl-CpG-binding protein 2
Domain 90 – 162 MBD
Modified residue 116 – 116 Phosphoserine
Beta strand 130 – 134


Literature citations

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.
Cheadle J.P.; Gill H.; Fleming N.; Maynard J.; Kerr A.; Leonard H.; Krawczak M.; Cooper D.N.; Lynch S.; Thomas N.; Hughes H.; Hulten M.; Ravine D.; Sampson J.R.; Clarke A.;
Hum. Mol. Genet. 9:1119-1129(2000)
Cited for: VARIANTS RTT LEU-101; HIS-101; THR-101; TRP-106; CYS-133; CYS-134; ARG-152; MET-158; ARG-225; LEU-302; CYS-306 AND HIS-306; VARIANTS LEU-229 AND THR-439;

Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome.
Obata K.; Matsuishi T.; Yamashita Y.; Fukuda T.; Kuwajima K.; Horiuchi I.; Nagamitsu S.; Iwanaga R.; Kimura A.; Omori I.; Endo S.; Mori K.; Kondo I.;
J. Med. Genet. 37:608-610(2000)
Cited for: VARIANTS RTT TRP-106; PHE-124; CYS-133; CYS-134; ARG-152; MET-158 AND CYS-306;

Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation.
Giunti L.; Pelagatti S.; Lazzerini V.; Guarducci S.; Lapi E.; Coviello S.; Cecconi A.; Ombroni L.; Andreucci E.; Sani I.; Brusaferri A.; Lasagni A.; Ricotti G.; Giometto B.; Nicolao P.; Gasparini P.; Granatiero M.; Giovannucci Uzielli M.L.;
Brain Dev. 23:S242-S245(2001)
Cited for: VARIANTS RTT TRP-106; CYS-134; ARG-152; MET-158; ALA-302; CYS-306 AND ALA-322; VARIANTS VAL-201 AND LYS-397;

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
Vacca M.; Filippini F.; Budillon A.; Rossi V.; Mercadante G.; Manzati E.; Gualandi F.; Bigoni S.; Trabanelli C.; Pini G.; Calzolari E.; Ferlini A.; Meloni I.; Hayek G.; Zappella M.; Renieri A.; D'Urso M.; D'Esposito M.; MacDonald F.; Kerr A.; Dhanjal S.; Hulten M.;
J. Mol. Med. 78:648-655(2001)
Cited for: VARIANTS RTT SER-101; TRP-106; CYS-133; CYS-134; ARG-152; ALA-158 AND MET-158;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.