Results for the protein: P18074

Results for the Protein: P18074

119540

2068

ERCC2

NCBI, UniProt

ERCC2_HUMAN RecName: Full=TFIIH basal transcription factor complex helicase XPD subunit; AltName: Full=Basic transcription factor 2 80 kDa subunit; Short=BTF2 p80; AltName: Full=CXPD; AltName: Full=DNA excision repair protein ERCC-2; AltName: Full=DNA repair protein complementing XP-D cells; AltName: Full=TFIIH basal transcription factor complex 80 kDa subunit; Short=TFIIH 80 kDa subunit; Short=TFIIH p80; AltName: Full=Xeroderma pigmentosum group D-complementing protein

Known Diseases associated with this Protein:
  CEREBROOCULOFACIOSKELETAL SYNDROME
  CEREBROOCULOFACIOSKELETAL SYNDROME 2
  TRICHOTHIODYSTROPHY
  TRICHOTHIODYSTROPHY PHOTOSENSITIVE (TTDP)
  TRICHOTHIODYSTROPHY, INCLUDED
  XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D (XP-D)
  XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D
  XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D, INCLUDED

42

6

12

2

34

Tips:

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Default View: - smart00489 DEXDc2 - smart00488 DEAD_2 - pfam06733 DUF1227 - pfam06777 - smart00492 HELICc2 - smart00491	Swiss-Prot Protein: P18074 Identical to: NP_000391 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
	smart00489	5.8e-140	8	280
DEAD_2	pfam06733	4.3e-68	72	256
DUF1227	pfam06777	4.7e-95	268	413
HELICc2	smart00491	3.7e-77	542	686
	smart00492	3e-85	542	686

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_017288	Disease	p.ALA594PRO	Trichothiodystrophy photosensitive (TTDP)
Swiss-Prot	VAR_003631	Disease	p.ALA725PRO	Trichothiodystrophy photosensitive (TTDP)
Swiss-Prot	VAR_011415	Polymorphism	p.ARG616CYS	N/A
Swiss-Prot	VAR_008194	Disease	p.ARG658CYS	Trichothiodystrophy photosensitive (TTDP)
Swiss-Prot	VAR_017285	Disease	p.ARG511GLN	Xeroderma pigmentosum complementation group D (XP-D)
Swiss-Prot	VAR_008197	Disease	p.ARG683GLN	Xeroderma pigmentosum complementation group D (XP-D)
Swiss-Prot	VAR_017284	Disease	p.ARG487GLY	Trichothiodystrophy photosensitive (TTDP)
Swiss-Prot	VAR_017290	Disease	p.ARG658GLY	Trichothiodystrophy photosensitive (TTDP)
Swiss-Prot	VAR_003622	Disease	p.ARG112HIS	Xeroderma pigmentosum complementation group D (XP-D)
Swiss-Prot	VAR_008195	Disease	p.ARG658HIS	Trichothiodystrophy photosensitive (TTDP)
Swiss-Prot	VAR_008192	Disease	p.ARG601LEU	Xeroderma pigmentosum complementation group D (XP-D)
Swiss-Prot	VAR_017287	Disease	p.ARG592PRO	Trichothiodystrophy photosensitive (TTDP)
Swiss-Prot	VAR_003626	Disease	p.ARG616PRO	Xeroderma pigmentosum complementation group D (XP-D)
Swiss-Prot	VAR_017289	Disease	p.ARG601TRP	Xeroderma pigmentosum complementation group D (XP-D)
Swiss-Prot	VAR_008193	Disease	p.ARG616TRP	Xeroderma pigmentosum complementation group D (XP-D)
Swiss-Prot	VAR_017292	Disease	p.ARG666TRP	Xeroderma pigmentosum complementation group D (XP-D)
Swiss-Prot	VAR_008198	Disease	p.ARG683TRP	Xeroderma pigmentosum complementation group D (XP-D)
Swiss-Prot	VAR_003630	Disease	p.ARG722TRP	Trichothiodystrophy photosensitive (TTDP)
Swiss-Prot	VAR_008188	Disease	p.ASP234ASN	Xeroderma pigmentosum complementation group D (XP-D)
dbSNP	rs1799793	Polymorphism	p.ASP312ASN	N/A
Swiss-Prot	VAR_017293	Disease	p.ASP681ASN	Xeroderma pigmentosum complementation group D (XP-D)
Swiss-Prot	VAR_008196	Disease	p.ASP673GLY	Trichothiodystrophy photosensitive (TTDP)
Swiss-Prot	VAR_017291	Disease	p.CYS663ARG	Trichothiodystrophy photosensitive (TTDP)
Swiss-Prot	VAR_008189	Disease	p.CYS259TYR	Trichothiodystrophy photosensitive (TTDP)
Swiss-Prot	VAR_008187	Disease	p.GLY47ARG	Xeroderma pigmentosum complementation group D (XP-D)
Swiss-Prot	VAR_003628	Polymorphism	p.GLY675ARG	N/A
Swiss-Prot	VAR_008199	Disease	p.GLY713ARG	Trichothiodystrophy photosensitive (TTDP)
Swiss-Prot	VAR_003627	Disease	p.GLY602ASP	Xeroderma pigmentosum complementation group D (XP-D)
Swiss-Prot	VAR_011413	Polymorphism	p.HIS201TYR	N/A
Swiss-Prot	VAR_011412	Polymorphism	p.ILE199MET	N/A
Swiss-Prot	VAR_017283	Disease	p.LEU485PRO	Xeroderma pigmentosum complementation group D (XP-D)
Swiss-Prot	VAR_003623	Disease	p.LEU461VAL	Xeroderma pigmentosum complementation group D (XP-D)
dbSNP	rs13181	Polymorphism	p.LYS751GLN	N/A
Swiss-Prot	VAR_003625	Disease	p.SER541ARG	Xeroderma pigmentosum complementation group D (XP-D)
Swiss-Prot	VAR_017282	Disease	p.THR76ALA	Xeroderma pigmentosum complementation group D (XP-D)
Swiss-Prot	VAR_008191	Disease	p.TYR542CYS	Xeroderma pigmentosum complementation group D (XP-D)
OMIM	126340.0003	Disease	p.ALA725PRO	TRICHOTHIODYSTROPHY
OMIM	126340.0007	Disease	p.ARG658CYS	TRICHOTHIODYSTROPHY
OMIM	126340.0006	Disease	p.ARG112HIS	TRICHOTHIODYSTROPHY\|\|XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D, INCLUDED
OMIM	126340.0010	Disease	p.ARG616TRP	CEREBROOCULOFACIOSKELETAL SYNDROME\|\|XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D, INCLUDED
OMIM	126340.0015	Disease	p.ARG683TRP	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D
OMIM	126340.0014	Disease	p.ARG722TRP	TRICHOTHIODYSTROPHY
OMIM	126340.0009	Disease	p.ASP681ASN	CEREBROOCULOFACIOSKELETAL SYNDROME 2
OMIM	126340.0002	Disease	p.GLN726TER	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D
OMIM	126340.0008	Disease	p.GLY713ARG	TRICHOTHIODYSTROPHY
OMIM	126340.0013	Disease	p.LEU485PRO	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D
OMIM	126340.0001	Disease	p.LEU461VAL	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D\|\|TRICHOTHIODYSTROPHY, INCLUDED
OMIM	126340.0005	Disease	p.SER541ARG	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D

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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