Results for the protein: P19447

Results for the Protein: P19447

119541

2071

ERCC3

NCBI, UniProt

ERCC3_HUMAN RecName: Full=TFIIH basal transcription factor complex helicase XPB subunit; AltName: Full=Basic transcription factor 2 89 kDa subunit; Short=BTF2 p89; AltName: Full=DNA excision repair protein ERCC-3; AltName: Full=DNA repair protein complementing XP-B cells; AltName: Full=TFIIH basal transcription factor complex 89 kDa subunit; Short=TFIIH 89 kDa subunit; Short=TFIIH p89; AltName: Full=Xeroderma pigmentosum group B-complementing protein

Known Diseases associated with this Protein:
  TRICHOTHIODYSTROPHY
  TRICHOTHIODYSTROPHY PHOTOSENSITIVE (TTDP)
  XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME
  XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B (XP-B)

6

5

4

0

7

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Default View: DEXDc - smart00487 HELICc - smart00490	Swiss-Prot Protein: P19447 Identical to: NP_000113 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
HELICc	smart00490	3.6e-10	569	647

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_014767	Polymorphism	p.GLY402CYS	N/A
Swiss-Prot	VAR_014766	Polymorphism	p.LYS117ARG	N/A
Swiss-Prot	VAR_035942	Polymorphism	p.LYS418GLN	N/A
Swiss-Prot	VAR_003632	Disease	p.PHE99SER	Xeroderma pigmentosum complementation group B (XP-B)
Swiss-Prot	VAR_017294	Polymorphism	p.SER704LEU	N/A
Swiss-Prot	VAR_014344	Polymorphism	p.SER735PRO	N/A
Swiss-Prot	VAR_008186	Disease	p.THR119PRO	Trichothiodystrophy photosensitive (TTDP)
OMIM	133510.0004	Disease	p.ARG425TER	XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME
OMIM	133510.0007	Disease	p.GLN545TER	XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME
OMIM	133510.0002	Disease	p.PHE99SER	XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME
OMIM	133510.0003	Disease	p.THR119PRO	TRICHOTHIODYSTROPHY

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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