Results for the protein: O75600

Results for the Protein: O75600

6685545

23464

GCAT

NCBI, UniProt

KBL_HUMAN RecName: Full=2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial; Short=AKB ligase; AltName: Full=Aminoacetone synthase; AltName: Full=Glycine acetyltransferase; Flags: Precursor

			0 2 0 2 0

Tips:

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Default View: BioF - COG0156 OAT_like - cd00610 csdA - COG0520 Aminotran_1_2 - pfam00155 KBL_like - cd06454 AAT_like - cd00609 Aminotran_5 - pfam00266 AAT_I - cd01494	Swiss-Prot Protein: O75600 Identical to: NP_055106 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
OAT_like	cd00610	0.00048	32	412
csdA	COG0520	4.5e-06	45	417
KBL_like	cd06454	7.8e-168	65	412
AAT_like	cd00609	9.7e-06	68	410
AAT_I	cd01494	4.6e-17	111	278
Aminotran_1_2	pfam00155	5.4e-77	65	408
Aminotran_5	pfam00266	0.00015	82	404

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs79849571	Polymorphism	p.ARG39CYS	N/A
dbSNP	rs34468367	Polymorphism	p.SER100ASN	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.

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