Results for the protein: Q92743

Results for the Protein: Q92743

18202620

5654

HTRA1

NCBI, UniProt

HTRA1_HUMAN RecName: Full=Serine protease HTRA1; AltName: Full=High-temperature requirement A serine peptidase 1; AltName: Full=L56; AltName: Full=Serine protease 11; Flags: Precursor

Known Diseases associated with this Protein:
  AND LEUKOENCEPHALOPATHY
  CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, AUTOSOMAL RECESSIVE (CARASIL)
  CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS

7

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5

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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: IB - smart00121 IGFBP - pfam00219 Kazal_1 - pfam00050 KAZAL_PSTI - cd01327 KAZAL - smart00280 Kazal_2 - pfam07648 KAZAL_FS - cd00104 DegQ - COG0265 Trypsin - pfam00089 PDZ - smart00228 PDZ - pfam00595 PDZ - cd00136 PDZ_serine_protease - cd00987 PDZ_CTP_protease - cd00988 PDZ_signaling - cd00992 PDZ_metalloprotease - cd00989	Swiss-Prot Protein: Q92743 Identical to: NP_002766 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
KAZAL_FS	cd00104	7.4e-11	112	155
DegQ	COG0265	2.2e-77	127	480
PDZ	cd00136	1.9e-12	381	463
PDZ_serine_protease	cd00987	2.1e-23	381	473
PDZ_CTP_protease	cd00988	6.2e-10	383	477
PDZ_signaling	cd00992	9e-06	385	463
PDZ_metalloprotease	cd00989	5.9e-09	404	475
IGFBP	pfam00219	3.2e-05	37	89
Kazal_1	pfam00050	0.0001	102	155
Trypsin	pfam00089	7.9e-16	188	364
PDZ	pfam00595	3.8e-08	370	463
IB	smart00121	2.8e-26	35	111
KAZAL	smart00280	1.7e-13	109	155
Kazal_2	pfam07648	5.1e-11	110	155
PDZ	smart00228	8.1e-17	359	466

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_063148	Disease	p.ALA252THR	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal recessive (CARASIL)
Swiss-Prot	VAR_063149	Disease	p.VAL297MET	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal recessive (CARASIL)
OMIM	602194.0005	Disease	p.ALA252THR	CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS\|\|AND LEUKOENCEPHALOPATHY
OMIM	602194.0003	Disease	p.ARG302TER	CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS\|\|AND LEUKOENCEPHALOPATHY
OMIM	602194.0002	Disease	p.ARG370TER	CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS\|\|AND LEUKOENCEPHALOPATHY
OMIM	602194.0006	Disease	p.GLY295ARG	CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS\|\|AND LEUKOENCEPHALOPATHY
OMIM	602194.0004	Disease	p.VAL297MET	CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS\|\|AND LEUKOENCEPHALOPATHY

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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