UniProtKB/Swiss-Prot P51608: Variant p.Pro376Ser

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

376 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 Proline (P) to Serine (S) at position 376 (P376S, p.Pro376Ser). 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 hydrophobic (P) to small size and polar (S) 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 rs61752387 [ dbSNP | Ensembl ]

Sequence information Variant position:

376 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:

SSASSPPKKEHHHHHHHSES P KAPVPLLPPLPPPPPEPESS 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                         SSASSPPKKEHHHHHHHSESPKAPVPLLPPLPPPPPEPESS

Mouse                         SSASSPPKKEHHHHHHHSESTKAPMPLLP--SPPPPEPESS

Rat                           SSASSPPKKEHHHHHHHAESPKAPMPLLP--PPPPPEPQSS

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

Literature citations
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 analysis of the coding sequence of the MECP2 gene in infantile autism.
Beyer K.S.; Blasi F.; Bacchelli E.; Klauck S.M.; Maestrini E.; Poustka A.;
Hum. Genet. 111:305-309(2002)
Cited for: VARIANTS VAL-181; SER-376; PRO-388 DEL AND LEU-402; MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.
Laccone F.; Zoll B.; Huppke P.; Hanefeld F.; Pepinski W.; Trappe R.;
J. Med. Genet. 39:586-588(2002)
Cited for: VARIANT MRXS13 VAL-140; VARIANT RTT TRP-344; VARIANTS MET-197; SER-376; LEU-399 AND SER-428; DISCUSSION OF PATHOGENIC ROLE; 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;

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.