Results for the protein: Q14527

Results for the Protein: Q14527

60390864

6596

HLTF

NCBI, UniProt

HLTF_HUMAN RecName: Full=Helicase-like transcription factor; AltName: Full=DNA-binding protein/plasminogen activator inhibitor 1 regulator; AltName: Full=HIP116; AltName: Full=RING finger protein 80; AltName: Full=SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 3; AltName: Full=Sucrose nonfermenting protein 2-like 3

			0 4 0 4 0

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Default View: HIRAN - pfam08797 HepA - COG0553 DEXDc - smart00487 SNF2_N - pfam00176 DEXDc - cd00046 RING - cd00162 RING - smart00184 zf-C3HC4 - pfam00097 HELICc - cd00079 HELICc - smart00490 Helicase_C - pfam00271	Swiss-Prot Protein: Q14527 Identical to: NP_620636, NP_003062 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DEXDc	cd00046	6.7e-05	437	588
RING	cd00162	2.6e-13	759	804
HELICc	cd00079	5.4e-13	824	958
SNF2_N	pfam00176	7.1e-32	433	720
zf-C3HC4	pfam00097	0.00037	760	800
Helicase_C	pfam00271	5.2e-18	869	950
HIRAN	pfam08797	1.2e-29	60	155
DEXDc	smart00487	8.9e-93	232	614
RING	smart00184	8.2e-10	760	800
HELICc	smart00490	5.7e-14	865	950

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2229361	Polymorphism	p.ARG819HIS	N/A
dbSNP	rs2305868	Polymorphism	p.ASN311SER	N/A
dbSNP	rs2228257	Polymorphism	p.GLU362GLN	N/A
dbSNP	rs74820266	Polymorphism	p.TYR332CYS	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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