Variant position: 485 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:
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 DIYPKILDFHPVTMATFTMT LARVCLCPMIIGRGNDQVAIS
Mouse DIYPKILDFHPVTMATFTMT LARVCLCPMIIGRGNDQVAIS
Bovine DIYPKILDFHPVTMATFTMT LARVCLCPMIIGRGNDQVAIS
Slime mold DIYTKMLNFRPTVVERLTMS LNRNCICPCILTRGSDQISIS
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
1 – 760 General transcription and DNA repair factor IIH helicase subunit XPD
438 – 637 Mediates interaction with MMS19
430 – 760 Missing. In isoform 2.
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;
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.