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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92793: Variant p.Leu1747Arg

CREB-binding protein
Gene: CREBBP
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Variant information Variant position: help 1747 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Leucine (L) to Arginine (R) at position 1747 (L1747R, p.Leu1747Arg). 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: help Change from medium size and hydrophobic (L) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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: help In MKHK1. Any additional useful information about the variant.


Sequence information Variant position: help 1747 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2442 The length of the canonical sequence.
Location on the sequence: help DLCINCYNTKSHAHKMVKWG L GLDDEGSSQGEPQSKSPQES 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: help 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.
TypePositionsDescription
Chain 2 – 2442 CREB-binding protein
Zinc finger 1702 – 1750 ZZ-type
Region 1460 – 1891 Interaction with TRERF1
Binding site 1729 – 1729
Binding site 1732 – 1732
Binding site 1738 – 1738
Binding site 1740 – 1740
Modified residue 1741 – 1741 N6-acetyllysine
Modified residue 1744 – 1744 N6-acetyllysine
Modified residue 1763 – 1763 Phosphoserine



Literature citations
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
Menke L.A.; van Belzen M.J.; Alders M.; Cristofoli F.; Ehmke N.; Fergelot P.; Foster A.; Gerkes E.H.; Hoffer M.J.; Horn D.; Kant S.G.; Lacombe D.; Leon E.; Maas S.M.; Melis D.; Muto V.; Park S.M.; Peeters H.; Peters D.J.; Pfundt R.; van Ravenswaaij-Arts C.M.; Tartaglia M.; Hennekam R.C.;
Am. J. Med. Genet. A 170:2681-2693(2016)
Cited for: VARIANTS MKHK1 ARG-1710; ARG-1747; PRO-1786; PHE-1819; TRP-1826; TYR-1838; GLN-1867; TRP-1867; TRP-1868 AND VAL-1872; INVOLVEMENT IN MKHK1;
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.