UniProtKB/Swiss-Prot P35222: Variant p.Lys292Asn

Catenin beta-1
Gene: CTNNB1
Feedback?

Variant information Variant position:

292 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Lysine (K) to Asparagine (N) at position 292 (K292N, p.Lys292Asn). 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 large size and basic (K) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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:

Found in a patient with features of osteopathia striata cranial sclerosis; uncertain significance; results in increased Wnt signaling. Any additional useful information about the variant.

Sequence information Variant position:

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

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

AVRLAGGLQKMVALLNKTNV K FLAITTDCLQILAYGNQESK 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                         AVRLAGGLQKMVALLNKTNVKFLAITTDCLQILAYGNQESK

                              AVRLAGGLQKMVALLNKTNVKFLAITTDCLQILAYGNQESK

Mouse                         AVRLAGGLQKMVALLNKTNVKFLAITTDCLQILAYGNQESK

Rat                           AVRLAGGLQKMVALLNKTNVKFLAITTDCLQILAYGNQESK

Bovine                        AVRLAGGLQKMVALLNKTNVKFLAITTDCLQILAYGNQESK

Xenopus laevis                AVRLAGGLQKMVALLNKTNVKFLAITTDCLQILAYGNQESK

Zebrafish                     AVRLAGGLQKMVALLNKTNVKFLAITTDCLQILAYGNQESK

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 – 781	Catenin beta-1
Repeat	277 – 318	ARM 4
Mutagenesis	292 – 292	K -> A. Abolishes or strongly reduces AXIN1 and AXIN2 binding.
Mutagenesis	312 – 312	K -> E. Abolishes TCF7L2 binding.
Helix	291 – 303

Literature citations
A mosaic variant in CTNNB1/beta-catenin as a novel cause for osteopathia striata with cranial sclerosis.
Huybrechts Y.; Appelman-Dijkstra N.M.; Steenackers E.; Van Beylen W.; Mortier G.; Hendrickx G.; Van Hul W.;
J. Clin. Endocrinol. Metab. 0:0-0(2024)
Cited for: VARIANT ASN-292; CHARACTERIZATION OF VARIANT ASN-292;

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.