Results for the protein: Q9BYV1

Results for the Protein: Q9BYV1

17432913

64902

AGXT2

NCBI, UniProt

AGT2_HUMAN RecName: Full=Alanine--glyoxylate aminotransferase 2, mitochondrial; Short=AGT 2; AltName: Full=(R)-3-amino-2-methylpropionate--pyruvate transaminase; AltName: Full=Beta-ALAAT II; AltName: Full=Beta-alanine-pyruvate aminotransferase; AltName: Full=D-AIBAT; Flags: Precursor

			0 8 0 6 2

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Default View: GabT - COG0160 HemL - COG0001 ArgD - COG4992 OAT_like - cd00610 BioA - COG0161 Aminotran_3 - pfam00202	Swiss-Prot Protein: Q9BYV1 Identical to: NP_114106 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
HemL	COG0001	7.3e-13	54	512
OAT_like	cd00610	3.1e-175	70	505
BioA	COG0161	5e-76	70	513
ArgD	COG4992	1.3e-74	70	513
Aminotran_3	pfam00202	1.3e-90	87	444

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs16870794	Polymorphism	p.GLY132ARG	N/A
dbSNP	rs17245714	Polymorphism	p.PRO492ARG	N/A
Swiss-Prot	VAR_023483	Polymorphism	p.SER102ASN	N/A
dbSNP	rs37370	Polymorphism	p.SER102ILE	N/A
Swiss-Prot	VAR_061007	Polymorphism	p.SER102THR	N/A
dbSNP	rs180749	Polymorphism	p.THR212ILE	N/A
dbSNP	rs37369	Polymorphism	p.VAL140ILE	N/A
dbSNP	rs16899974	Polymorphism	p.VAL498LEU	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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