Results for the protein: P28715

Results for the Protein: P28715

205371791

2073

ERCC5

NCBI, UniProt

ERCC5_HUMAN RecName: Full=DNA repair protein complementing XP-G cells; AltName: Full=DNA excision repair protein ERCC-5; AltName: Full=Xeroderma pigmentosum group G-complementing protein

Known Diseases associated with this Protein:
XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G (XP-G)

4

18

0

0

22

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: XPGN - smart00485 PIN_FEN1_EXO1-like - cd00128 XPG_N - pfam00752 Exo - COG0258 XPG_I - pfam00867 XPGI - smart00484 H3TH_StructSpec-5'-n - cd00080 HhH2 - smart00279	Swiss-Prot Protein: P28715 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Exo	COG0258	4.1e-05	654	1012
H3TH_StructSpec-5'-n	cd00080	2.9e-15	842	919
XPG_N	pfam00752	2.7e-54	2	98
XPG_I	pfam00867	9.5e-34	777	861
XPGN	smart00485	4.2e-50	1	98
XPGI	smart00484	2.8e-33	777	846
HhH2	smart00279	1.8e-12	848	881

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_017096	Disease	p.ALA874THR	Xeroderma pigmentosum complementation group G (XP-G)
Swiss-Prot	VAR_020436	Polymorphism	p.ALA1119VAL	N/A
Swiss-Prot	VAR_007733	Disease	p.ALA792VAL	Xeroderma pigmentosum complementation group G (XP-G)
Swiss-Prot	VAR_023124	Polymorphism	p.ARG1009HIS	N/A
Swiss-Prot	VAR_020435	Polymorphism	p.ASN879SER	N/A
Swiss-Prot	VAR_007734	Polymorphism	p.ASP1104HIS	N/A
Swiss-Prot	VAR_020433	Polymorphism	p.CYS529SER	N/A
Swiss-Prot	VAR_020432	Polymorphism	p.GLN256ARG	N/A
Swiss-Prot	VAR_020434	Polymorphism	p.GLN680ARG	N/A
Swiss-Prot	VAR_023121	Polymorphism	p.GLU399LYS	N/A
Swiss-Prot	VAR_046374	Polymorphism	p.GLY1053ARG	N/A
Swiss-Prot	VAR_046375	Polymorphism	p.GLY1080ARG	N/A
Swiss-Prot	VAR_023125	Polymorphism	p.GLY1080GLN	N/A
Swiss-Prot	VAR_023120	Polymorphism	p.HIS181ARG	N/A
Swiss-Prot	VAR_017097	Disease	p.LEU858PRO	Xeroderma pigmentosum complementation group G (XP-G)
Swiss-Prot	VAR_007732	Polymorphism	p.MET254VAL	N/A
Swiss-Prot	VAR_046373	Polymorphism	p.PHE670LEU	N/A
Swiss-Prot	VAR_015280	Disease	p.PRO72HIS	Xeroderma pigmentosum complementation group G (XP-G)
Swiss-Prot	VAR_014829	Polymorphism	p.SER311CYS	N/A
Swiss-Prot	VAR_020431	Polymorphism	p.VAL145ILE	N/A
Swiss-Prot	VAR_023122	Polymorphism	p.VAL590ILE	N/A
Swiss-Prot	VAR_023123	Polymorphism	p.VAL597LEU	N/A

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258