Results for the protein: Q9H3D4

Results for the Protein: Q9H3D4

57013009

8626

TP63

NCBI, UniProt

P63_HUMAN RecName: Full=Tumor protein 63; Short=p63; AltName: Full=Chronic ulcerative stomatitis protein; Short=CUSP; AltName: Full=Keratinocyte transcription factor KET; AltName: Full=Transformation-related protein 63; Short=TP63; AltName: Full=Tumor protein p73-like; Short=p73L; AltName: Full=p40; AltName: Full=p51

Known Diseases associated with this Protein:
  3
  ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME (ADULT SYNDROME)
  ADULT SYNDROME
  ADULT SYNDROME, INCLUDED
  ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
  ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (AEC)
  ECTODERMAL DYSPLASIA, RAPP-HODGKIN TYPE (EDRH)
  ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME
  ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (EEC3)
  NON-SYNDROMIC OROFACIAL CLEFT 8 (OFC8)
  OROFACIAL CLEFT 8
  RAPP-HODGKIN SYNDROME
  RAPP-HODGKIN SYNDROME, INCLUDED
  SPLIT-HAND/FOOT MALFORMATION 4
  SPLIT-HAND/FOOT MALFORMATION 4 (SHFM4)

47

7

21

0

33

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: P53 - pfam00870 P53 - cd08367 P53_tetramer - pfam07710 SAM - smart00454 SAM_2 - pfam07647 - cd00166	Swiss-Prot Protein: Q9H3D4 Identical to: NP_003713 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
	cd00166	9.1e-10	543	605
P53	pfam00870	2.2e-149	163	359
P53_tetramer	pfam07710	3.4e-20	392	432
SAM_2	pfam07647	5.4e-13	541	605
SAM	smart00454	2.9e-09	541	607

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_020867	Polymorphism	p.ALA187PRO	N/A
Swiss-Prot	VAR_032741	Disease	p.ARG318CYS	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-Prot	VAR_020874	Disease	p.ARG319CYS	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-Prot	VAR_020870	Disease	p.ARG243GLN	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-Prot	VAR_032738	Disease	p.ARG266GLN	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-Prot	VAR_032742	Disease	p.ARG318GLN	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-Prot	VAR_020875	Disease	p.ARG337GLN	Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome)
Swiss-Prot	VAR_020876	Disease	p.ARG343GLN	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-Prot	VAR_035127	Disease	p.ARG352GLY	Non-syndromic orofacial cleft 8 (OFC8)
Swiss-Prot	VAR_020873	Disease	p.ARG318HIS	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-Prot	VAR_032743	Disease	p.ARG319HIS	Split-hand/foot malformation 4 (SHFM4)
Swiss-Prot	VAR_032744	Disease	p.ARG319SER	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-Prot	VAR_020871	Disease	p.ARG243TRP	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-Prot	VAR_032745	Disease	p.ARG343TRP	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-Prot	VAR_020878	Disease	p.ASP351GLY	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-Prot	VAR_032748	Disease	p.ASP351HIS	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-Prot	VAR_035130	Polymorphism	p.ASP603HIS	N/A
Swiss-Prot	VAR_020877	Disease	p.CYS345ARG	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-Prot	VAR_020881	Disease	p.CYS561GLY	Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC)
Swiss-Prot	VAR_032746	Disease	p.CYS347SER	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-Prot	VAR_032739	Disease	p.CYS308TYR	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-Prot	VAR_020868	Polymorphism	p.GLN204LEU	N/A
Swiss-Prot	VAR_035128	Disease	p.ILE549THR	Ectodermal dysplasia, Rapp-Hodgkin type (EDRH)
Swiss-Prot	VAR_020879	Disease	p.LEU553PHE	Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC)
Swiss-Prot	VAR_032737	Disease	p.LYS232GLU	Split-hand/foot malformation 4 (SHFM4)
Swiss-Prot	VAR_020869	Disease	p.LYS233GLU	Split-hand/foot malformation 4 (SHFM4)
Swiss-Prot	VAR_020872	Polymorphism	p.PRO279HIS	N/A
Swiss-Prot	VAR_032747	Disease	p.PRO348SER	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-Prot	VAR_020880	Polymorphism	p.SER560ALA	N/A
Swiss-Prot	VAR_032740	Disease	p.SER311ASN	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-Prot	VAR_035126	Polymorphism	p.SER129LEU	N/A
Swiss-Prot	VAR_020866	Polymorphism	p.SER184LEU	N/A
Swiss-Prot	VAR_035129	Disease	p.SER580PRO	Ectodermal dysplasia, Rapp-Hodgkin type (EDRH)
OMIM	603273.0006	Disease	p.ARG280CYS	SPLIT-HAND/FOOT MALFORMATION 4
OMIM	603273.0023	Disease	p.ARG97CYS	SPLIT-HAND/FOOT MALFORMATION 4
OMIM	603273.0002	Disease	p.ARG204GLN	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME\|\|3
OMIM	603273.0024	Disease	p.ARG227GLN	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME\|\|3\|\|ADULT SYNDROME, INCLUDED
OMIM	603273.0014	Disease	p.ARG298GLN	ADULT SYNDROME
OMIM	603273.0008	Disease	p.ARG304GLN	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME\|\|3
OMIM	603273.0022	Disease	p.ARG298GLY	ADULT SYNDROME
OMIM	603273.0021	Disease	p.ARG313GLY	OROFACIAL CLEFT 8
OMIM	603273.0007	Disease	p.ARG279HIS	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME\|\|3\|\|RAPP-HODGKIN SYNDROME, INCLUDED
OMIM	603273.0028	Disease	p.ARG227PRO	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME\|\|3
OMIM	603273.0019	Disease	p.ARG545PRO	RAPP-HODGKIN SYNDROME
OMIM	603273.0001	Disease	p.ARG204TRP	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME\|\|3
OMIM	603273.0011	Disease	p.ASN6HIS	ADULT SYNDROME
OMIM	603273.0015	Disease	p.ASP312GLY	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME\|\|3
OMIM	603273.0003	Disease	p.CYS306ARG	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME\|\|3
OMIM	603273.0010	Disease	p.CYS522GLY	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
OMIM	603273.0018	Disease	p.ILE510THR	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE\|\|RAPP-HODGKIN SYNDROME, INCLUDED
OMIM	603273.0009	Disease	p.LEU514PHE	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
OMIM	603273.0005	Disease	p.LYS194GLU	SPLIT-HAND/FOOT MALFORMATION 4
OMIM	603273.0026	Disease	p.PRO127LEU	ADULT SYNDROME
OMIM	603273.0020	Disease	p.VAL114MET	ADULT 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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258