Results for the protein: O94761

Results for the Protein: O94761

18206225

9401

RECQL4

NCBI, UniProt

RECQ4_HUMAN RecName: Full=ATP-dependent DNA helicase Q4; AltName: Full=DNA helicase, RecQ-like type 4; Short=RecQ4; AltName: Full=RTS; AltName: Full=RecQ protein-like 4

Known Diseases associated with this Protein:
  BALLER-GEROLD SYNDROME
  BALLER-GEROLD SYNDROME (BGS)
  RAPADILINO SYNDROME
  ROTHMUND-THOMSON SYNDROME

5

35

4

15

21

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Default View: DEXDc - smart00487 HELICc - smart00490	Swiss-Prot Protein: O94761 Identical to: NP_004251 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
HELICc	smart00490	2.7e-24	714	809

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_025132	Polymorphism	p.ALA1045THR	N/A
Swiss-Prot	VAR_025121	Polymorphism	p.ALA273THR	N/A
dbSNP	rs36023964	Polymorphism	p.ALA1004VAL	N/A
Swiss-Prot	VAR_025123	Polymorphism	p.ARG522CYS	N/A
Swiss-Prot	VAR_023299	Polymorphism	p.ARG1005GLN	N/A
Swiss-Prot	VAR_025131	Polymorphism	p.ARG1021GLN	N/A
dbSNP	rs34915097	Polymorphism	p.ARG1105GLN	N/A
Swiss-Prot	VAR_023296	Polymorphism	p.ARG355GLN	N/A
dbSNP	rs34358597	Polymorphism	p.ARG868GLY	N/A
dbSNP	rs35348691	Polymorphism	p.ARG1045HIS	N/A
Swiss-Prot	VAR_025135	Polymorphism	p.ARG1106HIS	N/A
dbSNP	rs35842750	Polymorphism	p.ARG522HIS	N/A
dbSNP	rs35101495	Polymorphism	p.ARG1113THR	N/A
Swiss-Prot	VAR_025130	Polymorphism	p.ARG1004TRP	N/A
Swiss-Prot	VAR_026591	Disease	p.ARG1021TRP	Baller-Gerold syndrome (BGS)
dbSNP	rs34735741	Polymorphism	p.ARG806TRP	N/A
dbSNP	rs35198096	Polymorphism	p.GLN54ARG	N/A
dbSNP	rs4244612	Polymorphism	p.GLU267ASP	N/A
dbSNP	rs34642881	Polymorphism	p.GLU71GLY	N/A
Swiss-Prot	VAR_025122	Polymorphism	p.GLU301LYS	N/A
Swiss-Prot	VAR_025129	Polymorphism	p.GLU976LYS	N/A
Swiss-Prot	VAR_025136	Polymorphism	p.GLY1113ARG	N/A
Swiss-Prot	VAR_025133	Polymorphism	p.GLY1105ASP	N/A
Swiss-Prot	VAR_025134	Polymorphism	p.GLY1105SER	N/A
dbSNP	rs34914400	Polymorphism	p.GLY1161SER	N/A
Swiss-Prot	VAR_025120	Polymorphism	p.GLY189SER	N/A
dbSNP	rs4925828	Polymorphism	p.LEU1043PRO	N/A
dbSNP	rs2721191	Polymorphism	p.PRO591LEU	N/A
dbSNP	rs35098923	Polymorphism	p.PRO793LEU	N/A
Swiss-Prot	VAR_023297	Polymorphism	p.PRO441SER	N/A
Swiss-Prot	VAR_025126	Polymorphism	p.PRO793SER	N/A
dbSNP	rs2721190	Polymorphism	p.PRO92SER	N/A
Swiss-Prot	VAR_025128	Polymorphism	p.PRO964THR	N/A
Swiss-Prot	VAR_025137	Polymorphism	p.SER1148PHE	N/A
Swiss-Prot	VAR_026590	Polymorphism	p.SER523THR	N/A
Swiss-Prot	VAR_025127	Polymorphism	p.VAL799MET	N/A
OMIM	603780.0012	Disease	p.ARG1021TRP	BALLER-GEROLD SYNDROME
OMIM	603780.0002	Disease	p.GLN757TER	ROTHMUND-THOMSON SYNDROME
OMIM	603780.0010	Disease	p.GLU1091TER	RAPADILINO SYNDROME
OMIM	603780.0011	Disease	p.TRP269TER	RAPADILINO SYNDROME

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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