Results for the protein: P26358

Results for the Protein: P26358

12231019

1786

DNMT1

NCBI, UniProt

DNMT1_HUMAN RecName: Full=DNA (cytosine-5)-methyltransferase 1; Short=Dnmt1; AltName: Full=CXXC-type zinc finger protein 9; AltName: Full=DNA methyltransferase HsaI; Short=DNA MTase HsaI; Short=M.HsaI; AltName: Full=MCMT

Known Diseases associated with this Protein:
  CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
  CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (ADCADN)
  NEUROPATHY, HEREDITARY SENSORY, 1E (HSN1E)
  NEUROPATHY, HEREDITARY SENSORY, TYPE IE

10

4

6

3

5

Tips:

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

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

Default View: DMAP_binding - pfam06464 DNMT1-RFD - pfam12047 BAH_Dnmt1_I - cd04760 zf-CXXC - pfam02008 BAH_DCM_I - cd04712 BAH - cd04370 BAH - pfam01426 BAH - smart00439 BAH_plantDCM_II - cd04708 BAH_Dnmt1_II - cd04711 Dcm - COG0270 Cyt_C5_DNA_methylase - cd00315 DNA_methylase - pfam00145	Swiss-Prot Protein: P26358 Identical to: NP_001370 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
BAH_DCM_I	cd04712	1.8e-06	752	881
BAH	cd04370	5.8e-31	754	878
BAH_Dnmt1_I	cd04760	3.8e-97	754	900
BAH_plantDCM_II	cd04708	5.9e-09	927	1151
BAH	cd04370	7.8e-49	930	1097
BAH_Dnmt1_II	cd04711	3.6e-110	965	1101
Dcm	COG0270	2.4e-39	1136	1600
Cyt_C5_DNA_methylase	cd00315	2.5e-17	1139	1594
zf-CXXC	pfam02008	1.3e-22	645	691
BAH	pfam01426	1.1e-36	755	880
BAH	pfam01426	6.2e-36	966	1100
DNA_methylase	pfam00145	2.9e-21	1139	1594
DMAP_binding	pfam06464	4.9e-31	16	106
DNMT1-RFD	pfam12047	1.2e-56	399	534
BAH	smart00439	8.8e-36	756	880
BAH	smart00439	2.2e-45	932	1100

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_070055	Disease	p.ALA554VAL	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN)
Swiss-Prot	VAR_070056	Disease	p.GLY589ALA	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN)
dbSNP	rs16999593	Polymorphism	p.HIS97ARG	N/A
dbSNP	rs2228613	Polymorphism	p.ILE528MET	N/A
dbSNP	rs2228612	Polymorphism	p.ILE311PHE	N/A
Swiss-Prot	VAR_051960	Polymorphism	p.ILE311VAL	N/A
Swiss-Prot	VAR_065966	Disease	p.TYR495CYS	Neuropathy, hereditary sensory, 1E (HSN1E)
Swiss-Prot	VAR_070057	Disease	p.VAL590PHE	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN)
OMIM	126375.0004	Disease	p.ALA554VAL	CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
OMIM	126375.0002	Disease	p.ASP474GLU	NEUROPATHY, HEREDITARY SENSORY, TYPE IE
OMIM	126375.0005	Disease	p.GLY589ALA	CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
OMIM	126375.0002	Disease	p.PRO475TYR	NEUROPATHY, HEREDITARY SENSORY, TYPE IE
OMIM	126375.0001	Disease	p.TYR479CYS	NEUROPATHY, HEREDITARY SENSORY, TYPE IE
OMIM	126375.0003	Disease	p.VAL590PHE	CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT

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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