Figure 5. Mutations in the XPD protein in TTD, XP and XP/CS patients.

Figure 5

Mutations in the XPD protein in TTD, XP and XP/CS patients. The diagram shows the XPD protein with the helicase domains (black boxes). The amino acid changes resulting from the mutations found in the different pathological phenotypes are shown boxed. The numbers 1 and 2 after the patient code denote the different alleles. The changes responsible for the pathological phenotype, those resulting in deletions likely to affect cellular viability and mutations described as lethal32,60 are indicated by solid, dashed and dotted arrows, respectively. The mutation leu461val and the deletion 716-730 have been always found associated in a single haplotype.

From: Trichothiodystrophy: A Disorder Highlighting the Crosstalk between DNA Repair and Transcription

Cover of Madame Curie Bioscience Database
Madame Curie Bioscience Database [Internet].
Austin (TX): Landes Bioscience; 2000-2013.
Copyright © 2000-2013, Landes Bioscience.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.