UniProtKB/Swiss-Prot Q09472: Variant p.Asn1511Ile

Histone acetyltransferase p300
Gene: EP300
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Variant information Variant position:

1511 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 Asparagine (N) to Isoleucine (I) at position 1511 (N1511I, p.Asn1511Ile). 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 polar (N) to medium size and hydrophobic (I) 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

Sequence information Variant position:

1511 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

2414 The length of the canonical sequence.
Location on the sequence:

TEDRLTSAKELPYFEGDFWP N VLEESIKELEQEEEERKREE 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                         TEDRLTSAKELPYFEGDFWPNVLEESIKELEQEEEERKREE

Mouse                         TEDRLTSAKELPYFEGDFWPNVLEESIKELEQEEEERKREE

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	2 – 2414	Histone acetyltransferase p300
Domain	1287 – 1663	CBP/p300-type HAT
Modified residue	1499 – 1499	N6-acetyllysine; by autocatalysis
Mutagenesis	1504 – 1504	F -> A. Abolished acetyltransferase activity.
Mutagenesis	1505 – 1505	E -> R. 90% decrease in activity; when associated with R-1625 and R-1628. 90% decrease in activity; when associated with R-1357; R-1625 and R-1628.
Helix	1508 – 1517

Literature citations
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.
Negri G.; Milani D.; Colapietro P.; Forzano F.; Della Monica M.; Rusconi D.; Consonni L.; Caffi L.G.; Finelli P.; Scarano G.; Magnani C.; Selicorni A.; Spena S.; Larizza L.; Gervasini C.;
Clin. Genet. 87:148-154(2015)
Cited for: VARIANT ILE-1511;

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.