Results for the protein: P46063

Results for the Protein: P46063

218512113

5965

RECQL

NCBI, UniProt

RECQ1_HUMAN RecName: Full=ATP-dependent DNA helicase Q1; AltName: Full=DNA helicase, RecQ-like type 1; Short=RecQ1; AltName: Full=DNA-dependent ATPase Q1; AltName: Full=RecQ protein-like 1

			0 4 0 3 1

Tips:

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Default View: SSL2 - COG1061 RecQ - COG0514 DEXDc - smart00487 DEAD - pfam00270 DEXDc - cd00046 HELICc - cd00079 HELICc - smart00490 Helicase_C - pfam00271	Swiss-Prot Protein: P46063 Identical to: NP_002898, NP_116559 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
RecQ	COG0514	4e-126	69	640
DEXDc	cd00046	4.5e-21	107	257
HELICc	cd00079	2e-37	285	417
DEAD	pfam00270	9.5e-31	93	265
Helicase_C	pfam00271	1.6e-24	332	409
DEXDc	smart00487	1e-26	84	291
HELICc	smart00490	1.4e-24	328	409

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs6499	Polymorphism	p.ASP495HIS	N/A
dbSNP	rs6501	Polymorphism	p.LYS487THR	N/A
dbSNP	rs1065751	Polymorphism	p.VAL102ILE	N/A
Swiss-Prot	VAR_051732	Polymorphism	p.VAL372ILE	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.

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