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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q06330: Variant p.Lys169Glu

Recombining binding protein suppressor of hairless
Gene: RBPJ
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Variant information Variant position: help 169 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 Lysine (K) to Glutamate (E) at position 169 (K169E, p.Lys169Glu). 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 large size and basic (K) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In AOS3; shows decreased binding to the HES1 promoter compared to wild-type. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 169 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 500 The length of the canonical sequence.
Location on the sequence: help NSDDIGVFLSKRIKVISKPS K KKQSLKNADLCIASGTKVAL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         NSDDIGVFLSKRIKVISKPSKKKQSLKNADLCIASGTKVAL

Mouse                         NSDDIGVFLSKRIKVISKPSKKKQSLKNADLCIASGTKVAL

Bovine                        NSDDIGVFLSKRIKVISKPSKKKQSLKNADLCIASGTKVAL

Xenopus laevis                NSDDIGVFLSKRIKVISKPSKKKQSLKNADLCIASGTKVAL

Drosophila                    NGHDIGVFNSKRIKVISKPSKKKQSLKNADLCIASGTNVAL
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 1 – 500 Recombining binding protein suppressor of hairless
Region 165 – 170 DNA-binding
Modified residue 175 – 175 N6-acetyllysine



Literature citations
RBPJ mutations identified in two families affected by Adams-Oliver syndrome.
Hassed S.J.; Wiley G.B.; Wang S.; Lee J.Y.; Li S.; Xu W.; Zhao Z.J.; Mulvihill J.J.; Robertson J.; Warner J.; Gaffney P.M.;
Am. J. Hum. Genet. 91:391-395(2012)
Cited for: VARIANTS AOS3 GLY-63 AND GLU-169; CHARACTERIZATION OF VARIANTS AOS3 GLY-63 AND GLU-169;
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.