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UniProtKB/Swiss-Prot Q92889: Variant p.Arg689Ser

DNA repair endonuclease XPF
Gene: ERCC4
Variant information

Variant position:  689
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Arginine (R) to Serine (S) at position 689 (R689S, p.Arg689Ser).
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 (R) to small size and polar (S)
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 FANCQ; disruption of interstrand cross-link repair activity; no effect on protein stability.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  689
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  916
The length of the canonical sequence.

Location on the sequence:   TRKAGGQEQNGTQQSIVVDM  R EFRSELPSLIHRRGIDIEPV
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                         TRKAGG---------QEQNGTQQS--IVVDMREFRSELPSLIHRRGIDIEPV

Mouse                         TRKAGG---------QEQNGTQSS--IVVDMREFRSELPSL

Drosophila                    SRQAGG---------QAPQATKETPKVIVDMREFRSDLPCL

Slime mold                    NSRLGGLMKNFDSIQQQQQQQQQKKTIIIDSHEFKSSLPVV

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.

TypePositionsDescription
Chain 1 – 916 DNA repair endonuclease XPF
Domain 683 – 763 ERCC4
Region 658 – 813 Nuclease
Alternative sequence 373 – 916 Missing. In isoform 2.


Literature citations

Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.
Bogliolo M.; Schuster B.; Stoepker C.; Derkunt B.; Su Y.; Raams A.; Trujillo J.P.; Minguillon J.; Ramirez M.J.; Pujol R.; Casado J.A.; Banos R.; Rio P.; Knies K.; Zuniga S.; Benitez J.; Bueren J.A.; Jaspers N.G.; Schaerer O.D.; de Winter J.P.; Schindler D.; Surralles J.;
Am. J. Hum. Genet. 92:800-806(2013)
Cited for: VARIANTS FANCQ PRO-230 AND SER-689;

Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.
Osorio A.; Bogliolo M.; Fernandez V.; Barroso A.; de la Hoya M.; Caldes T.; Lasa A.; Ramon y Cajal T.; Santamarina M.; Vega A.; Quiles F.; Lazaro C.; Diez O.; Fernandez D.; Gonzalez-Sarmiento R.; Duran M.; Piqueras J.F.; Marin M.; Pujol R.; Surralles J.; Benitez J.;
Hum. Mutat. 34:1615-1618(2013)
Cited for: VARIANTS CYS-150; HIS-267 AND ALA-621; VARIANTS FANCQ SER-689 AND PHE-786; CHARACTERIZATION OF VARIANT CYS-150; CHARACTERIZATION OF VARIANTS FANCQ SER-689 AND PHE-786;

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.