rs121913026
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Our genotype-phenotype correlation study showed patients who carry R722W mutation have a more severe TTD phenotype than other types of mutations.
|
23039039 |
2012 |
rs121913026
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Our cases confirm the severe phenotype associated with the p.Arg722Trp mutation and expand the known genetic mutations associated with trichothiodystrophy by demonstrating a novel pathogenic mutation in ERCC2.
|
31282071 |
2019 |
rs121913026
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Patient TTD24PV was compound heterozygous for a typical TTD allele (c.2164C>T</span>, p.Arg722Trp) and for a new XPD allele with a mutation that partially affects intron 10 splicing, resulting in both mutated and normal XPD transcripts (that together represent 15% of the total XPD mRNA).
|
19085937 |
2009 |
rs121913026
|
|
|
0.050 |
GeneticVariation |
BEFREE |
One TTD patient was homozygous for the known TTD-causing mutation p.R722W (c.2195C>T).
|
23800062 |
2013 |
rs121913026
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Mutations of Arg658 to either His or Cys correlate with TTD cell strains with intermediate UV-sensitivity, mutation of Arg722 to Trp correlates with highly UV-sensitive TTD cell strains, and mutation of Arg683 to Trp correlates with XP-D. Alleles with mutation of Arg616 to Pro or with the combined mutation of Leu461 to Val and deletion of 716-730 are found in both XP-D and TTD cell strains.
|
8571952 |
1996 |
rs121913016
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutations of Arg658 to either His or Cys correlate with TTD cell strains with intermediate UV-sensitivity, mutation of Arg722 to Trp correlates with highly UV-sensitive TTD cell strains, and mutation of Arg683 to Trp correlates with XP-D. Alleles with mutation of Arg616 to Pro or with the combined mutation of Leu461 to Val and deletion of 716-730 are found in both XP-D and TTD cell strains.
|
8571952 |
1996 |
rs121913020
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two patients were compound heterozygous for a TTD-causing mutation (c.366G>A, p.R112H) and a novel p.D681H (c.2072G>C) amino acid exchange, but exhibited different TTD and XP/CS complex phenotypes, respectively.
|
23800062 |
2013 |
rs121913021
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutations of Arg658 to either His or Cys correlate with TTD cell strains with intermediate UV-sensitivity, mutation of Arg722 to Trp correlates with highly UV-sensitive TTD cell strains, and mutation of Arg683 to Trp correlates with XP-D. Alleles with mutation of Arg616 to Pro or with the combined mutation of Leu461 to Val and deletion of 716-730 are found in both XP-D and TTD cell strains.
|
8571952 |
1996 |
rs121913045
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This con-stitutes a model system allowing us to correlate the relative expression levels of the XPB-A355C (TTD) and XPB-T296C (XP/CS) genes with various DNA repair properties.
|
10332046 |
1999 |
rs121913046
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Overexpression of the XPB-A355C (TTD) gene in an XP/CS cell gives rise to a cellular phenotype of increased repair similar to that of TTD6VI cells, while equal expression of the two mutated genes leads to an intermediate cellular phenotype between XP/CS and TTD.
|
10332046 |
1999 |
rs376556895
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutations of Arg658 to either His or Cys correlate with TTD cell strains with intermediate UV-sensitivity, mutation of Arg722 to Trp correlates with highly UV-sensitive TTD cell strains, and mutation of Arg683 to Trp correlates with XP-D. Alleles with mutation of Arg616 to Pro or with the combined mutation of Leu461 to Val and deletion of 716-730 are found in both XP-D and TTD cell strains.
|
8571952 |
1996 |
rs41556519
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutations of Arg658 to either His or Cys correlate with TTD cell strains with intermediate UV-sensitivity, mutation of Arg722 to Trp correlates with highly UV-sensitive TTD cell strains, and mutation of Arg683 to Trp correlates with XP-D. Alleles with mutation of Arg616 to Pro or with the combined mutation of Leu461 to Val and deletion of 716-730 are found in both XP-D and TTD cell strains.
|
8571952 |
1996 |
rs747619345
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This con-stitutes a model system allowing us to correlate the relative expression levels of the XPB-A355C (TTD) and XPB-T296C (XP/CS) genes with various DNA repair properties.
|
10332046 |
1999 |
rs750323550
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This con-stitutes a model system allowing us to correlate the relative expression levels of the XPB-A355C (TTD) and XPB-T296C (XP/CS) genes with various DNA repair properties.
|
10332046 |
1999 |
rs762141272
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutations of Arg658 to either His or Cys correlate with TTD cell strains with intermediate UV-sensitivity, mutation of Arg722 to Trp correlates with highly UV-sensitive TTD cell strains, and mutation of Arg683 to Trp correlates with XP-D. Alleles with mutation of Arg616 to Pro or with the combined mutation of Leu461 to Val and deletion of 716-730 are found in both XP-D and TTD cell strains.
|
8571952 |
1996 |
rs875989846
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report two unrelated children showing clinical features typical of TTD who harbor different homozygous missense mutations in GTF2E2 (c.448G>C [p.Ala150Pro] and c.559G>T [p.Asp187Tyr]) encoding the beta subunit of transcription factor IIE (TFIIEβ).
|
26996949 |
2016 |
rs875989847
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report two unrelated children showing clinical features typical of TTD who harbor different homozygous missense mutations in GTF2E2 (c.448G>C [p.Ala150Pro] and c.559G>T [p.Asp187Tyr]) encoding the beta subunit of transcription factor IIE (TFIIEβ).
|
26996949 |
2016 |
rs900744746
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This con-stitutes a model system allowing us to correlate the relative expression levels of the XPB-A355C (TTD) and XPB-T296C (XP/CS) genes with various DNA repair properties.
|
10332046 |
1999 |
rs769146546
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|