Results for the protein: P21549

Results for the Protein: P21549

134855

189

AGXT

NCBI, UniProt

SPYA_HUMAN RecName: Full=Serine--pyruvate aminotransferase; Short=SPT; AltName: Full=Alanine--glyoxylate aminotransferase; Short=AGT

Known Diseases associated with this Protein:
HYPEROXALURIA PRIMARY 1 (HP1)
HYPEROXALURIA, PRIMARY, TYPE I

47

10

13

6

38

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: csdA - COG0520 COG0075 - COG0075 Aminotran_5 - pfam00266 AGAT_like - cd06451 AAT_I - cd01494 SufS_like - cd06453	Swiss-Prot Protein: P21549 Identical to: NP_000021 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
COG0075	COG0075	1.2e-111	17	392
AGAT_like	cd06451	6.3e-213	24	385
AAT_I	cd01494	6e-46	56	223
SufS_like	cd06453	0.00035	77	380
Aminotran_5	pfam00266	2.9e-79	23	376

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_060550	Disease	p.ALA112ASP	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_048237	Polymorphism	p.ALA295THR	N/A
dbSNP	rs117195882	Polymorphism	p.ALA186VAL	N/A
dbSNP	rs73106685	Polymorphism	p.ALA280VAL	N/A
Swiss-Prot	VAR_008879	Disease	p.ARG233CYS	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_060567	Disease	p.ARG289CYS	Hyperoxaluria primary 1 (HP1)
dbSNP	rs34664134	Polymorphism	p.ARG197GLN	N/A
Swiss-Prot	VAR_008880	Disease	p.ARG233HIS	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_060560	Disease	p.ARG233LEU	Hyperoxaluria primary 1 (HP1)
dbSNP	rs34885252	Polymorphism	p.ASN22SER	N/A
Swiss-Prot	VAR_010973	Disease	p.ASP183ASN	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_060558	Disease	p.ASP201GLU	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_060561	Disease	p.ASP243HIS	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_060562	Disease	p.CYS253ARG	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_060555	Disease	p.CYS173TYR	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_010971	Disease	p.GLY116ARG	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_010972	Disease	p.GLY156ARG	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_060554	Disease	p.GLY161ARG	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_000590	Disease	p.GLY170ARG	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_060556	Disease	p.GLY190ARG	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_000588	Disease	p.GLY41ARG	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_060548	Disease	p.GLY82ARG	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_060572	Disease	p.GLY350ASP	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_008878	Disease	p.GLY82GLU	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_010969	Disease	p.GLY41VAL	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_060563	Disease	p.ILE279MET	Hyperoxaluria primary 1 (HP1)
dbSNP	rs4426527	Polymorphism	p.ILE340MET	N/A
Swiss-Prot	VAR_008881	Disease	p.ILE244THR	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_060564	Polymorphism	p.ILE279THR	N/A
Swiss-Prot	VAR_060569	Disease	p.LEU298PRO	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_060552	Disease	p.LEU153VAL	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_060557	Disease	p.MET195ARG	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_000589	Disease	p.PHE152ILE	Hyperoxaluria primary 1 (HP1)
dbSNP	rs34116584	Polymorphism	p.PRO11HIS	N/A
Swiss-Prot	VAR_000587	Polymorphism	p.PRO11LEU	N/A
Swiss-Prot	VAR_060553	Disease	p.SER158LEU	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_060559	Disease	p.SER218LEU	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_000591	Disease	p.SER187PHE	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_000592	Disease	p.SER205PRO	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_060566	Disease	p.SER287THR	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_060547	Disease	p.THR9ASN	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_060549	Disease	p.TRP108ARG	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_060571	Disease	p.VAL336ASP	Hyperoxaluria primary 1 (HP1)
Swiss-Prot	VAR_060570	Polymorphism	p.VAL326ILE	N/A
OMIM	604285.0008	Disease	p.ARG233CYS	HYPEROXALURIA, PRIMARY, TYPE I
OMIM	604285.0009	Disease	p.ARG233HIS	HYPEROXALURIA, PRIMARY, TYPE I
OMIM	604285.0012	Disease	p.GLY158ARG	HYPEROXALURIA, PRIMARY, TYPE I
OMIM	604285.0013	Disease	p.GLY170ARG	HYPEROXALURIA, PRIMARY, TYPE I
OMIM	604285.0005	Disease	p.GLY41ARG	HYPEROXALURIA, PRIMARY, TYPE I
OMIM	604285.0004	Disease	p.GLY82GLN	HYPEROXALURIA, PRIMARY, TYPE I
OMIM	604285.0014	Disease	p.ILE340MET	HYPEROXALURIA, PRIMARY, TYPE I
OMIM	604285.0007	Disease	p.ILE244THR	HYPEROXALURIA, PRIMARY, TYPE I
OMIM	604285.0006	Disease	p.PHE152ILE	HYPEROXALURIA, PRIMARY, TYPE I
OMIM	604285.0002	Disease	p.PRO11LEU	HYPEROXALURIA, PRIMARY, TYPE I
OMIM	604285.0001	Disease	p.SER205PRO	HYPEROXALURIA, PRIMARY, TYPE I
OMIM	604285.0010	Disease	p.TRP246TER	HYPEROXALURIA, PRIMARY, TYPE I
OMIM	604285.0003	Disease	p.TYR66TER	HYPEROXALURIA, PRIMARY, TYPE I

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