Results for the protein: P49675

Results for the Protein: P49675

71152974

6770

STAR

NCBI, UniProt

STAR_HUMAN RecName: Full=Steroidogenic acute regulatory protein, mitochondrial; Short=StAR; AltName: Full=START domain-containing protein 1; Short=StARD1; Flags: Precursor

Known Diseases associated with this Protein:
ADRENAL HYPERPLASIA 1 (AH1)
LIPOID CONGENITAL ADRENAL HYPERPLASIA

16

2

9

0

9

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: START_STARD3-like - cd08906 START_STARD1-like - cd08905 START_STARD1_3_like - cd08868 START_STARD6-like - cd08904 START_STARD5-like - cd08903 START - smart00234 START_STARD4_5_6-lik - cd08867 START - cd00177 START_1 - cd08876	Swiss-Prot Protein: P49675 Identical to: NP_000340 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
START_STARD1-like	cd08905	2.6e-166	70	278
START_STARD3-like	cd08906	4.4e-58	70	278
START_STARD5-like	cd08903	5.3e-16	73	278
START_STARD6-like	cd08904	4.8e-08	73	276
START_STARD4_5_6-lik	cd08867	5.3e-13	77	276
START	cd00177	9.6e-34	80	276
START_1	cd08876	1.3e-06	86	276
START	smart00234	6.8e-64	76	281

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_005628	Polymorphism	p.ALA203ASP	N/A
Swiss-Prot	VAR_014239	Disease	p.ALA218VAL	Adrenal hyperplasia 1 (AH1)
Swiss-Prot	VAR_005627	Disease	p.ARG182LEU	Adrenal hyperplasia 1 (AH1)
Swiss-Prot	VAR_014238	Disease	p.ARG217THR	Adrenal hyperplasia 1 (AH1)
Swiss-Prot	VAR_034520	Polymorphism	p.ARG121TRP	N/A
Swiss-Prot	VAR_014236	Disease	p.GLU169GLY	Adrenal hyperplasia 1 (AH1)
Swiss-Prot	VAR_014237	Disease	p.GLU169LYS	Adrenal hyperplasia 1 (AH1)
Swiss-Prot	VAR_014242	Disease	p.LEU275PRO	Adrenal hyperplasia 1 (AH1)
Swiss-Prot	VAR_014240	Disease	p.MET225THR	Adrenal hyperplasia 1 (AH1)
OMIM	600617.0012	Disease	p.ARG188CYS	LIPOID CONGENITAL ADRENAL HYPERPLASIA
OMIM	600617.0010	Disease	p.ARG182HIS	LIPOID CONGENITAL ADRENAL HYPERPLASIA
OMIM	600617.0003	Disease	p.ARG182LEU	LIPOID CONGENITAL ADRENAL HYPERPLASIA
OMIM	600617.0014	Disease	p.ARG193TER	LIPOID CONGENITAL ADRENAL HYPERPLASIA
OMIM	600617.0007	Disease	p.ARG217THR	LIPOID CONGENITAL ADRENAL HYPERPLASIA
OMIM	600617.0008	Disease	p.ARG218VAL	LIPOID CONGENITAL ADRENAL HYPERPLASIA
OMIM	600617.0002	Disease	p.GLN258TER	LIPOID CONGENITAL ADRENAL HYPERPLASIA
OMIM	600617.0006	Disease	p.TRP250TER	LIPOID CONGENITAL ADRENAL HYPERPLASIA
OMIM	600617.0011	Disease	p.VAL187MET	LIPOID CONGENITAL ADRENAL HYPERPLASIA

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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