Results for the protein: Q4L235

Results for the Protein: Q4L235

269849683

132949

AASDH

NCBI, UniProt

ACSF4_HUMAN RecName: Full=Acyl-CoA synthetase family member 4; AltName: Full=Aminoadipate-semialdehyde dehydrogenase; AltName: Full=Protein NRPS998

			0 9 0 4 5

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: Acs - COG0365 CaiC - COG0318 FAA1 - COG1022 AMP-binding - pfam00501 PP-binding - pfam00550 COG1520 - COG1520	Swiss-Prot Protein: Q4L235 Identical to: NP_861522 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Acs	COG0365	3.5e-10	1	545
FAA1	COG1022	0.00031	3	563
COG1520	COG1520	0.00067	696	1062
AMP-binding	pfam00501	2.5e-45	34	474
PP-binding	pfam00550	1.5e-05	557	626

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_038310	Polymorphism	p.ALA747VAL	N/A
dbSNP	rs61978622	Polymorphism	p.ASP650ASN	N/A
dbSNP	rs34543011	Polymorphism	p.ILE61VAL	N/A
dbSNP	rs61735109	Polymorphism	p.ILE787VAL	N/A
Swiss-Prot	VAR_038309	Polymorphism	p.LYS368ARG	N/A
dbSNP	rs34228795	Polymorphism	p.PRO93ARG	N/A
Swiss-Prot	VAR_038312	Polymorphism	p.THR865ALA	N/A
Swiss-Prot	VAR_038313	Polymorphism	p.TYR1030ASP	N/A
Swiss-Prot	VAR_038311	Polymorphism	p.VAL774ILE	N/A

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