UniProtKB/Swiss-Prot P18074: Variant p.Lys751Gln

General transcription and DNA repair factor IIH helicase subunit XPD
Gene: ERCC2
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Variant information Variant position:

751 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 Lysine (K) to Glutamine (Q) at position 751 (K751Q, p.Lys751Gln). 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 (Q) 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.

Variant rs13181 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

EDQLGLSLLSLEQLESEETL K RIEQIAQQL 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                         EDQLGLSLLSLEQLESEETLKRIEQIAQQL-----------------------

Mouse                         EDQLGLSLLSLEQLQSEETLQRIEQIAQQL

Bovine                        EDQLGLSLLSLEQLESEETLRRIEQIAQQL

Slime mold                    EEQLGKSLWSLEHVEKQSTSKPPQQQNSAI

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 – 760	General transcription and DNA repair factor IIH helicase subunit XPD
Alternative sequence	430 – 760	Missing. In isoform 2.

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ASN-312 AND GLN-751; Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT GLN-751; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT GLN-751; Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients.
Spitz M.R.; Wu X.; Wang Y.; Wang L.E.; Shete S.; Amos C.I.; Guo Z.; Lei L.; Mohrenweiser H.; Wei Q.;
Cancer Res. 61:1354-1357(2001)
Cited for: VARIANTS ASN-312 AND GLN-751; XPD exon 10 and 23 polymorphisms and DNA repair in human skin in situ.
Hemminki K.; Xu G.; Angelini S.; Snellman E.; Jansen C.T.; Lambert B.; Hou S.M.;
Carcinogenesis 22:1185-1188(2001)
Cited for: VARIANTS ASN-312 AND GLN-751; Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.
Broughton B.C.; Berneburg M.; Fawcett H.; Taylor E.M.; Arlett C.F.; Nardo T.; Stefanini M.; Menefee E.; Price V.H.; Queille S.; Sarasin A.; Bohnert E.; Krutmann J.; Davidson R.; Kraemer K.H.; Lehmann A.R.;
Hum. Mol. Genet. 10:2539-2547(2001)
Cited for: VARIANTS XP-D HIS-112; PRO-485 AND 582-GLU-LYS-583 DELINS VAL-SER-GLU; VARIANTS ASN-312 AND GLN-751;

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.