Results for the protein: P48436

Results for the Protein: P48436

1351096

6662

SOX9

NCBI, UniProt

SOX9_HUMAN RecName: Full=Transcription factor SOX-9

Known Diseases associated with this Protein:
  ACAMPOMELIC CAMPOMELIC DYSPLASIA
  CAMPOMELIC DYSPLASIA
  CAMPOMELIC DYSPLASIA (CMD1)
  CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL

22

1

6

1

16

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: Sox_N - pfam12444 SOX-TCF_HMG-box - cd01388 MATA_HMG-box - cd01389 HMG - smart00398 HMGB-UBF_HMG-box - cd01390 HMG-box - cd00084 HMG_box - pfam00505	Swiss-Prot Protein: P48436 Identical to: NP_000337 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
MATA_HMG-box	cd01389	3.3e-19	104	180
HMG-box	cd00084	2.4e-22	105	170
HMGB-UBF_HMG-box	cd01390	9e-15	105	170
HMG_box	pfam00505	4.6e-33	105	173
Sox_N	pfam12444	2.7e-39	21	95
HMG	smart00398	4.9e-28	104	173

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_063642	Disease	p.ALA76GLU	Campomelic dysplasia (CMD1)
Swiss-Prot	VAR_008530	Disease	p.ALA158THR	Campomelic dysplasia (CMD1)
Swiss-Prot	VAR_003738	Disease	p.ALA119VAL	Campomelic dysplasia (CMD1)
Swiss-Prot	VAR_003740	Disease	p.ARG152PRO	Campomelic dysplasia (CMD1)
dbSNP	rs61740803	Polymorphism	p.GLU190GLN	N/A
Swiss-Prot	VAR_063645	Disease	p.HIS165GLN	Campomelic dysplasia (CMD1)
Swiss-Prot	VAR_008531	Disease	p.HIS165TYR	Campomelic dysplasia (CMD1)
Swiss-Prot	VAR_063647	Disease	p.LYS173GLU	Campomelic dysplasia (CMD1)
Swiss-Prot	VAR_063643	Disease	p.MET113THR	Campomelic dysplasia (CMD1)
Swiss-Prot	VAR_063644	Disease	p.MET113VAL	Campomelic dysplasia (CMD1)
Swiss-Prot	VAR_003736	Disease	p.PHE112LEU	Campomelic dysplasia (CMD1)
Swiss-Prot	VAR_008529	Disease	p.PHE154LEU	Campomelic dysplasia (CMD1)
Swiss-Prot	VAR_003737	Disease	p.PHE112SER	Campomelic dysplasia (CMD1)
Swiss-Prot	VAR_003741	Disease	p.PRO170ARG	Campomelic dysplasia (CMD1)
Swiss-Prot	VAR_003735	Disease	p.PRO108LEU	Campomelic dysplasia (CMD1)
Swiss-Prot	VAR_063646	Disease	p.PRO170LEU	Campomelic dysplasia (CMD1)
Swiss-Prot	VAR_003739	Disease	p.TRP143ARG	Campomelic dysplasia (CMD1)
OMIM	608160.0009	Disease	p.ALA76GLU	ACAMPOMELIC CAMPOMELIC DYSPLASIA
OMIM	608160.0012	Disease	p.ALA158THR	CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
OMIM	608160.0008	Disease	p.HIS165TYR	ACAMPOMELIC CAMPOMELIC DYSPLASIA
OMIM	608160.0006	Disease	p.LYS173GLU	ACAMPOMELIC CAMPOMELIC DYSPLASIA
OMIM	608160.0011	Disease	p.PHE154LEU	CAMPOMELIC DYSPLASIA
OMIM	608160.0005	Disease	p.TYR440TER	CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL

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