UniProtKB/Swiss-Prot P51608: Variant p.Arg306Cys

Methyl-CpG-binding protein 2
Gene: MECP2
Feedback?

Variant information Variant position:

306 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Arginine (R) to Cysteine (C) at position 306 (R306C, p.Arg306Cys). 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 large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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
Variant description:

In RTT; abolishes interaction with TBL1X and TBL1XR1. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs28935468 [ dbSNP | Ensembl ]

Sequence information Variant position:

306 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:

KAVKESSIRSVQETVLPIKK R KTRETVSIEVKEVVKPLLVS 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                         KAVKESSIRSVQETVLPIKKRKTRETVSIEVKEVVKPLLVS

Mouse                         KAVKESSIRSVHETVLPIKKRKTRETVSIEVKEVVKPLLVS

Rat                           KAVKESSIRSVQETVLPIKKRKTRETVSIEVKEVVKPLLVS

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.

Type	Positions	Description
Chain	1 – 486	Methyl-CpG-binding protein 2
Region	269 – 309	Interaction with NCOR2
Region	285 – 309	Interaction with TBL1XR1
Modified residue	321 – 321	N6-acetyllysine

Literature citations
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.
Wan M.; Lee S.S.J.; Zhang X.; Houwink-Manville I.; Song H.-R.; Amir R.E.; Budden S.; Naidu S.; Pereira J.L.P.; Lo I.F.M.; Zoghbi H.Y.; Schanen N.C.; Francke U.;
Am. J. Hum. Genet. 65:1520-1529(1999)
Cited for: VARIANTS RTT TRP-106; CYS-133; SER-155; MET-158 AND CYS-306; VARIANT LYS-397; Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.
Buyse I.M.; Fang P.; Hoon K.T.; Amir R.E.; Zoghbi H.Y.; Roa B.B.;
Am. J. Hum. Genet. 67:1428-1436(2000)
Cited for: VARIANTS RTT VAL-100; GLN-106; TRP-106; CYS-133; ARG-152; SER-155; MET-158; ARG-305; CYS-306 AND HIS-306; VARIANTS CYS-86; MET-203; PRO-287; ALA-291; LYS-397; ILE-412 AND THR-444; 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; MECP2 mutations account for most cases of typical forms of Rett syndrome.
Bienvenu T.; Carrie A.; de Roux N.; Vinet M.-C.; Jonveaux P.; Couvert P.; Villard L.; Arzimanoglou A.; Beldjord C.; Fontes M.; Tardieu M.; Chelly J.;
Hum. Mol. Genet. 9:1377-1384(2000)
Cited for: VARIANTS RTT GLN-106; MET-158; ARG-302; CYS-306 AND ALA-322; Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.
Amano K.; Nomura Y.; Segawa M.; Yamakawa K.;
J. Hum. Genet. 45:231-236(2000)
Cited for: VARIANTS RTT MET-158; HIS-302 AND CYS-306; VARIANTS VAL-201; ALA-232; LEU-251 AND SER-376; Mutation screening in Rett syndrome patients.
Xiang F.; Buervenich S.; Nicolao P.; Bailey M.E.; Zhang Z.; Anvret M.;
J. Med. Genet. 37:250-255(2000)
Cited for: VARIANTS RTT GLU-97; TRP-106; CYS-133; ILE-155; MET-158 AND CYS-306; 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; Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.
Hampson K.; Woods C.G.; Latif F.; Webb T.;
J. Med. Genet. 37:610-612(2000)
Cited for: VARIANTS RTT ARG-101; TRP-106; MET-158 AND CYS-306; VARIANT LYS-397; Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.
Inui K.; Akagi M.; Ono J.; Tsukamoto H.; Shimono K.; Mano T.; Imai K.; Yamada M.; Muramatsu T.; Sakai N.; Okada S.;
Brain Dev. 23:212-215(2001)
Cited for: VARIANTS RTT ASP-120; CYS-133; 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 spectrum in patients with Rett syndrome in the German population: evidence of hot spot regions.
Laccone F.; Huppke P.; Hanefeld F.; Meins M.;
Hum. Mutat. 17:183-190(2001)
Cited for: VARIANTS RTT TRP-106; GLY-111; CYS-133; GLU-135; ARG-152; GLY-156; MET-158; ILE-210; ARG-302 AND CYS-306; MeCP2 mutations in children with and without the phenotype of Rett syndrome.
Hoffbuhr K.; Devaney J.M.; LaFleur B.; Sirianni N.; Scacheri C.; Giron J.; Schuette J.; Innis J.; Marino M.; Philippart M.; Narayanan V.; Umansky R.; Kronn D.; Hoffman E.P.; Naidu S.;
Neurology 56:1486-1495(2001)
Cited for: VARIANTS RTT TYR-97; TRP-106; HIS-133; CYS-133; ARG-152; MET-158; ARG-305; CYS-306 AND LEU-322; VARIANT MET-197; Mutation analysis of the MECP2 gene in patients with Rett syndrome.
Conforti F.L.; Mazzei R.; Magariello A.; Patitucci A.L.; Gabriele A.L.; Muglia M.; Quattrone A.; Fiumara A.; Pavone L.; Barone R.; Nistico R.; Mangone L.;
Am. J. Med. Genet. A 117:184-187(2003)
Cited for: VARIANTS RTT CYS-133; MET-158; CYS-306 AND SER-388; VARIANT SER-376; Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.
Smeets E.; Schollen E.; Moog U.; Matthijs G.; Herbergs J.; Smeets H.; Curfs L.; Schrander-Stumpel C.; Fryns J.-P.;
Am. J. Med. Genet. A 122:227-233(2003)
Cited for: VARIANTS RTT GLN-10; PRO-128; CYS-133; ARG-152; MET-158 AND CYS-306; Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.
Schanen C.; Houwink E.J.F.; Dorrani N.; Lane J.; Everett R.; Feng A.; Cantor R.M.; Percy A.;
Am. J. Med. Genet. A 126:129-140(2004)
Cited for: VARIANTS RTT ARG-100; VAL-100; TRP-106; CYS-133; ARG-152; ALA-158; MET-158; VAL-161; CYS-306 AND HIS-306; Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Trump N.; McTague A.; Brittain H.; Papandreou A.; Meyer E.; Ngoh A.; Palmer R.; Morrogh D.; Boustred C.; Hurst J.A.; Jenkins L.; Kurian M.A.; Scott R.H.;
J. Med. Genet. 53:310-317(2016)
Cited for: VARIANTS RTT 270-ARG--SER-486 DEL AND CYS-306; Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.
Kruusvee V.; Lyst M.J.; Taylor C.; Tarnauskaite Z.; Bird A.P.; Cook A.G.;
Proc. Natl. Acad. Sci. U.S.A. 114:E3243-E3250(2017)
Cited for: VARIANTS RTT ARG-305 AND CYS-306; CHARACTERIZATION OF VARIANTS RTT ARG-305 AND CYS-306; SUBCELLULAR LOCATION; INTERACTION WITH TBL1XR1 AND TBL1X;

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.