UniProtKB/Swiss-Prot P51608: Variant p.Glu397Lys

Methyl-CpG-binding protein 2
Gene: MECP2
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Variant information Variant position:

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

LB/B 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 Glutamate (E) to Lysine (K) at position 397 (E397K, p.Glu397Lys). 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 medium size and acidic (E) to large size and basic (K) 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
Other resources:

Links to websites of interest for the variant.

Variant rs56268439 [ dbSNP | Ensembl ]

Sequence information Variant position:

397 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:

KAPVPLLPPLPPPPPEPESS E DPTSPPEPQDLSSSVCKEEK 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                         KAPVPLLPPLPPPPPEPESSEDPTSPPEPQDLSSSVCKEEK

Mouse                         KAPMPLLP--SPPPPEPESSEDPISPPEPQDLSSSICKEEK

Rat                           KAPMPLLP--PPPPPEPQSSEDPISPPEPQDLSSSICKEEK

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	324 – 486	Disordered
Compositional bias	378 – 400	Pro residues

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; 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; 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; Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.
Moncla A.; Kpebe A.; Missirian C.; Mancini J.; Villard L.;
Eur. J. Hum. Genet. 10:86-89(2002)
Cited for: VARIANTS PRO-359 AND LYS-397;

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.