UniProtKB/Swiss-Prot Q92793: Variant p.His1719Asp

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 1719 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LP/P [Disclaimer: Variants classification is intended for research purposes only, not for clinical and diagnostic use. The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant.] 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 Histidine (H) to Aspartate (D) at position 1719 (H1719D, p.His1719Asp). 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 (H) to medium size and acidic (D) 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
Variant description: In MKHK1. Any additional useful information about the variant.

Sequence information

Variant position: 1719 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2442 The length of the canonical sequence.
Location on the sequence: GQDRFVYTCNECKHHVETRW H CTVCEDYDLCINCYNTKSHA 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.
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 – 2442	CREB-binding protein
Zinc finger	1702 – 1750	ZZ-type
Region	1460 – 1891	Interaction with TRERF1
Binding site	1707 – 1707
Binding site	1710 – 1710
Binding site	1720 – 1720
Binding site	1723 – 1723
Binding site	1729 – 1729
Binding site	1732 – 1732
Binding site	1738 – 1738
Beta strand	1718 – 1721

Literature citations

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
Menke L.A.; Gardeitchik T.; Hammond P.; Heimdal K.R.; Houge G.; Hufnagel S.B.; Ji J.; Johansson S.; Kant S.G.; Kinning E.; Leon E.L.; Newbury-Ecob R.; Paolacci S.; Pfundt R.; Ragge N.K.; Rinne T.; Ruivenkamp C.; Saitta S.C.; Sun Y.; Tartaglia M.; Terhal P.A.; van Essen A.J.; Vigeland M.D.; Xiao B.; Hennekam R.C.;
Am. J. Med. Genet. A 176:862-876(2018)
Cited for: VARIANTS MKHK1 ASP-1719; VAL-1782; ASP-1829; 1865-MET-ARG-1866 DELINS ILE; GLN-1867; GLN-1868; TRP-1868; PRO-1870 AND VAL-1872; INVOLVEMENT IN MKHK1;