Results for the protein: P35713

Results for the Protein: P35713

12644232

54345

SOX18

NCBI, UniProt

SOX18_HUMAN RecName: Full=Transcription factor SOX-18

Known Diseases associated with this Protein:
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME (HLTS)

5

0

3

0

2

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-TCF_HMG-box - cd01388 HMG - smart00398 MATA_HMG-box - cd01389 HMG_box - pfam00505 HMGB-UBF_HMG-box - cd01390 HMG-box - cd00084 Sox_C_TAD - pfam12067	Swiss-Prot Protein: P35713 Identical to: NP_060889 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
MATA_HMG-box	cd01389	2.3e-20	84	160
HMG-box	cd00084	2.1e-23	85	150
HMGB-UBF_HMG-box	cd01390	3.7e-15	85	150
HMG_box	pfam00505	6.6e-32	85	153
HMG	smart00398	1.6e-28	84	153
Sox_C_TAD	pfam12067	1.1e-88	191	383

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_016211	Disease	p.ALA104PRO	Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS)
Swiss-Prot	VAR_016210	Disease	p.TRP95ARG	Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS)
OMIM	601618.0001	Disease	p.ALA104PRO	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
OMIM	601618.0003	Disease	p.CYS240TER	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
OMIM	601618.0002	Disease	p.TRP95ARG	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA 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.

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