Results for the protein: Q03468

Results for the Protein: Q03468

416959

2074

ERCC6

NCBI, UniProt

ERCC6_HUMAN RecName: Full=DNA excision repair protein ERCC-6; AltName: Full=ATP-dependent helicase ERCC6; AltName: Full=Cockayne syndrome protein CSB

Known Diseases associated with this Protein:
  CEREBRO-OCULO-FACIO-SKELETAL SYNDROME 1 (COFS1)
  CEREBROOCULOFACIOSKELETAL SYNDROME 1
  COCKAYNE SYNDROME B
  COCKAYNE SYNDROME B (CSB)
  DE SANCTIS-CACCHIONE SYNDROME, INCLUDED
  UV-SENSITIVE SYNDROME 1

17

33

8

8

34

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: HepA - COG0553 DEXDc - smart00487 SNF2_N - pfam00176 DEXDc - cd00046 HELICc - cd00079 HELICc - smart00490 Helicase_C - pfam00271	Swiss-Prot Protein: Q03468 Identical to: NP_000115 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DEXDc	cd00046	8.7e-28	526	677
HELICc	cd00079	2.1e-32	828	960
SNF2_N	pfam00176	1.7e-143	510	810
Helicase_C	pfam00271	5.6e-24	873	952
DEXDc	smart00487	2.3e-32	499	707
HELICc	smart00490	7.3e-23	869	952

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_001224	Polymorphism	p.ARG1213GLY	N/A
Swiss-Prot	VAR_036022	Polymorphism	p.ARG652LEU	N/A
Swiss-Prot	VAR_016305	Polymorphism	p.ARG1230PRO	N/A
Swiss-Prot	VAR_036023	Polymorphism	p.ARG1038THR	N/A
Swiss-Prot	VAR_054153	Polymorphism	p.ARG134TRP	N/A
Swiss-Prot	VAR_001218	Disease	p.ARG670TRP	Cockayne syndrome B (CSB)
Swiss-Prot	VAR_063511	Disease	p.ASN680ASP	Cockayne syndrome B (CSB)
Swiss-Prot	VAR_016301	Polymorphism	p.ASP425ALA	N/A
Swiss-Prot	VAR_037437	Polymorphism	p.ASP1355GLU	N/A
Swiss-Prot	VAR_001225	Polymorphism	p.GLN1413ARG	N/A
Swiss-Prot	VAR_036024	Polymorphism	p.GLU1119GLN	N/A
Swiss-Prot	VAR_036025	Polymorphism	p.GLU1119VAL	N/A
Swiss-Prot	VAR_016308	Polymorphism	p.GLY1372ARG	N/A
Swiss-Prot	VAR_016309	Polymorphism	p.GLY1382ARG	N/A
Swiss-Prot	VAR_016310	Polymorphism	p.GLY1410ARG	N/A
Swiss-Prot	VAR_001217	Polymorphism	p.GLY399ASP	N/A
Swiss-Prot	VAR_016302	Polymorphism	p.GLY446ASP	N/A
Swiss-Prot	VAR_016307	Polymorphism	p.GLY1322VAL	N/A
Swiss-Prot	VAR_063514	Disease	p.LEU871PRO	Cerebro-oculo-facio-skeletal syndrome 1 (COFS1)
Swiss-Prot	VAR_063515	Disease	p.LEU987PRO	Cerebro-oculo-facio-skeletal syndrome 1 (COFS1)
Swiss-Prot	VAR_001216	Polymorphism	p.LYS255THR	N/A
Swiss-Prot	VAR_001223	Polymorphism	p.MET1097VAL	N/A
Swiss-Prot	VAR_036021	Polymorphism	p.PRO591ALA	N/A
Swiss-Prot	VAR_001222	Polymorphism	p.PRO1095ARG	N/A
Swiss-Prot	VAR_001221	Disease	p.PRO1042LEU	Cockayne syndrome B (CSB)
Swiss-Prot	VAR_063513	Disease	p.SER687LEU	Cockayne syndrome B (CSB)
Swiss-Prot	VAR_037436	Polymorphism	p.THR1220ILE	N/A
Swiss-Prot	VAR_016311	Polymorphism	p.THR1441ILE	N/A
Swiss-Prot	VAR_016303	Polymorphism	p.THR942MET	N/A
Swiss-Prot	VAR_001219	Disease	p.TRP851ARG	Cockayne syndrome B (CSB)
Swiss-Prot	VAR_063512	Disease	p.TRP686CYS	Cockayne syndrome B (CSB)
Swiss-Prot	VAR_016304	Polymorphism	p.TYR1002CYS	N/A
Swiss-Prot	VAR_001220	Disease	p.VAL957GLY	Cockayne syndrome B (CSB)
Swiss-Prot	VAR_016306	Polymorphism	p.VAL1308LEU	N/A
dbSNP	rs2228527	Polymorphism	p.ARG1213GLY	N/A
dbSNP	rs4253211	Polymorphism	p.ARG1230PRO	N/A
dbSNP	rs2228529	Polymorphism	p.GLN1413ARG	N/A
dbSNP	rs2228528	Polymorphism	p.GLY399ASP	N/A
dbSNP	rs4253219	Polymorphism	p.GLY1322VAL	N/A
dbSNP	rs2228526	Polymorphism	p.MET1097VAL	N/A
dbSNP	rs4253230	Polymorphism	p.THR1441ILE	N/A
dbSNP	rs2228525	Polymorphism	p.THR942MET	N/A
OMIM	609413.0015	Disease	p.ARG1288TER	CEREBROOCULOFACIOSKELETAL SYNDROME 1
OMIM	609413.0004	Disease	p.ARG453TER	COCKAYNE SYNDROME B
OMIM	609413.0012	Disease	p.ARG683TER	CEREBROOCULOFACIOSKELETAL SYNDROME 1
OMIM	609413.0002	Disease	p.ARG735TER	COCKAYNE SYNDROME B\|\|DE SANCTIS-CACCHIONE SYNDROME, INCLUDED
OMIM	609413.0009	Disease	p.ARG77TER	UV-SENSITIVE SYNDROME 1
OMIM	609413.0013	Disease	p.LEU987PRO	CEREBROOCULOFACIOSKELETAL SYNDROME 1
OMIM	609413.0008	Disease	p.PRO1095ARG	COCKAYNE SYNDROME B
OMIM	609413.0001	Disease	p.TRP517TER	COCKAYNE SYNDROME B

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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