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UniProtKB/Swiss-Prot Q01831: Variant p.Gln939Lys

DNA repair protein complementing XP-C cells
Gene: XPC
Variant information

Variant position:  939
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 Lysine (K) at position 939 (Q939K, p.Gln939Lys).
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 large size and basic (K)
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

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



Sequence information

Variant position:  939
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  940
The length of the canonical sequence.

Location on the sequence:   GPKKTKREKKAAASHLFPFE  Q L
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                         GPKKTKREKKAAASHLFPFEQL

Mouse                         YTKMTRKRRAAEASHLFPFEKL

Drosophila                    ----------------------

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 2 – 940 DNA repair protein complementing XP-C cells
Region 816 – 940 Interaction with ERCC2 and GTF2H1
Region 866 – 940 Disordered
Alternative sequence 141 – 940 Missing. In isoform 3.


Literature citations

Purification and cloning of a nucleotide excision repair complex involving the Xeroderma pigmentosum group C protein and a human homologue of yeast RAD23.
Masutani C.; Sugasawa K.; Yanagisawa J.; Sonoyama T.; Ui M.; Enomoto T.; Takio K.; Tanaka K.; van der Spek P.J.; Bootsma D.; Hoeijmakers J.H.J.; Hanaoka F.;
EMBO J. 13:1831-1843(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); PROTEIN SEQUENCE OF 2-55; VARIANTS VAL-499 AND LYS-939;

The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function.
Khan S.G.; Muniz-Medina V.; Shahlavi T.; Baker C.C.; Inui H.; Ueda T.; Emmert S.; Schneider T.D.; Kraemer K.H.;
Nucleic Acids Res. 30:3624-3631(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-499 AND LYS-939; ALTERNATIVE SPLICING;

Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-16; PHE-48; ARG-86; GLN-314; HIS-492; VAL-499; ILE-513; GLU-632; HIS-671; MET-689; GLN-928 AND LYS-939;

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.