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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P19447: Variant p.Phe99Ser

General transcription and DNA repair factor IIH helicase/translocase subunit XPB
Gene: ERCC3
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Variant information Variant position: help 99 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Phenylalanine (F) to Serine (S) at position 99 (F99S, p.Phe99Ser). 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: help Change from large size and aromatic (F) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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
Variant description: help In XP-B; combined with features of Cockayne syndrome; mild; reduced interaction with GTF2H4/p52 leads to low ATPase stimulation and decreased DNA duplex unwinding by TFIIH; does not alter helicase activity; does not alter TFIIH recruitment to DNA damage; XPA is not recruited to DNA damage by TFIIH; nearly wild-type transcription activity by TFIIH. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 99 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 782 The length of the canonical sequence.
Location on the sequence: help APDGHIFLEAFSPVYKYAQD F LVAIAEPVCRPTHVHEYKLT 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         AP-DGHIFLEAFSPVYKYAQDFLVAIAEPVCRPTHVHEYKLT

Mouse                         AP-DGHIFLEAFSPVYKYAQDFLVAIAEPVCRPTHVHEYKL

Rat                           AP-DGHIFLEAFSPVYKYAQDFLVAIAEPVCRPTHVHEYKL

Bovine                        AP-DGHIFLEAFSPVYKYAQDFLVAIAEPVCRPTHVHEYKL

Chicken                       AP-DGHIFLEAFSPVYKYAQDFLVAIAEPVCRPTHIHEYKL

Zebrafish                     AP-DGHIFLEAFSPVYKYAQDFLVAISEPVCRPTHAHEYKL

Drosophila                    AP-NGHVFLESFSPVYKHAHDFLIAISEPVCRPEHIHEYKL

Slime mold                    CP-DGHIFLETFSAIYKQASDFLVAIAEPVCRPQNIHEYQL

Fission yeast                 NPIDGRIILEAFSPLAEQAIDFLVTISEPVSRPAFIHEYRI
Sequence annotation in neighborhood: help 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 1 – 782 General transcription and DNA repair factor IIH helicase/translocase subunit XPB
Helix 93 – 103



Literature citations
Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair.
Coin F.; Oksenych V.; Egly J.M.;
Mol. Cell 26:245-256(2007)
Cited for: HELICASE ACTIVITY; ATPASE ACTIVITY; ACTIVITY REGULATION; MUTAGENESIS OF LYS-346; THR-469 AND GLN-638; VARIANT XP-B SER-99; VARIANT TTD2 PRO-119; Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3.
Vermeulen W.; Scott R.J.; Rodgers S.; Mueller H.J.; Cole J.; Arlett C.F.; Kleijer W.J.; Bootsma D.; Hoeijmakers J.H.J.; Weeda G.;
Am. J. Hum. Genet. 54:191-200(1994)
Cited for: VARIANT XP-B SER-99; Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
Oh K.-S.; Khan S.G.; Jaspers N.G.J.; Raams A.; Ueda T.; Lehmann A.; Friedmann P.S.; Emmert S.; Gratchev A.; Lachlan K.; Lucassan A.; Baker C.C.; Kraemer K.H.;
Hum. Mutat. 27:1092-1103(2006)
Cited for: VARIANT XP-B SER-99;
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.