UniProtKB/SwissProt variant VAR

Variant information

Variant position:

67

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 Glutamine (Q) to Glutamate (E) at position 67 (Q67E, p.Gln67Glu).

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 (Q) to medium size and acidic (E)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

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:

Decreases degradation of p53/TP53.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs585627 [ dbSNP | Ensembl ]

Sequence information

Variant position:

67

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

756

The length of the canonical sequence.

Location on the sequence:

CQLSESSDSSDSESDSESEP Q QVSGYHRLLATLKNVSEEEE

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                         CQLSESS-DSSDSESDS-------ESEPQQVSGYHRLLATLKNVS-------------EEEE

Mouse                         CQLPESS-DSSHSESES-------ESEQEHVSGYHRLLATL

Rat                           CQLSESS-DSSHSESES-------ESEQEHVSGYHRLLATL

Chicken                       CELSDNS-DKSSAESDS-------ETEVEQVSVYHKLLATL

Xenopus tropicalis            VQLPESSEDESRSESEA-------ESDPEPVNMYHKLLATL

Zebrafish                     LRLPDSP-QRPEPDSED-------DSDAEQPSAYQKLLSTM

Baker's yeast                 EDIDHRSDEDEVSDVDSGDDFDIEDEEGKKEKVYDALLTIL

Fission yeast                 YLMNKNKKRKPEKKDDK-------EKSSKKVQKKNKVIESL

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	1 – 756	U3 small nucleolar RNA-associated protein 25 homolog
Region	1 – 185	Promotes p53/TP53 degradation
Region	1 – 159	Disordered
Modified residue	50 – 50	Phosphoserine
Modified residue	52 – 52	Phosphoserine
Modified residue	58 – 58	Phosphoserine
Modified residue	60 – 60	Phosphoserine
Modified residue	62 – 62	Phosphoserine
Modified residue	64 – 64	Phosphoserine

Literature citations

The full-ORF clone resource of the German cDNA consortium.
Bechtel S.; Rosenfelder H.; Duda A.; Schmidt C.P.; Ernst U.; Wellenreuther R.; Mehrle A.; Schuster C.; Bahr A.; Bloecker H.; Heubner D.; Hoerlein A.; Michel G.; Wedler H.; Koehrer K.; Ottenwaelder B.; Poustka A.; Wiemann S.; Schupp I.;
BMC Genomics 8:399-399(2007)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS GLU-67 AND ASP-111;

Def defines a conserved nucleolar pathway that leads p53 to proteasome-independent degradation.
Tao T.; Shi H.; Guan Y.; Huang D.; Chen Y.; Lane D.P.; Chen J.; Peng J.;
Cell Res. 23:620-634(2013)
Cited for: VARIANTS GLU-67 AND ASP-111; CHARACTERIZATION OF VARIANTS GLU-67 AND ASP-111; FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH CAPN3;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q68CQ4: Variant p.Gln67Glu