OGG1 A288V [nucleoplasm]

Stable Identifier
R-HSA-9656265
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
OGG1 Ala288Val
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OGG1 A288V [nucleoplasm] icon
OGG1 A288V [nucleoplasm] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
17426120 Identification and characterization of OGG1 mutations in patients with Alzheimer's disease

Huang, J, Zhang, Y, Mao, G, Pan, X, Li, GM, Markesbery, WR, Yuan, F, Lee, MP, Lovell, MA, Gu, L, Zhu, BB

Nucleic Acids Res. 2007
External Reference Information
External Reference
UniProt:O15527 OGG1
Gene Names
OGG1, MMH, MUTM, OGH1
Chain
chain:1-345
Reference Genes
BioGPS Gene:4968 OGG1
COSMIC (genes):OGG1 OGG1
CTD Gene:4968 OGG1
dbSNP Gene:4968 OGG1
ENSEMBL:ENSG00000114026 OGG1
HGNC:8125 OGG1
KEGG:hsa:4968 OGG1
Monarch:4968 OGG1
NCBI Gene:4968 OGG1
OMIM:601982 OGG1
UCSC:O15527 OGG1
Reference Transcript
Participates
as a member of
Other forms of this molecule
OGG1 [nucleoplasm]
OGG1 R131G [nucleoplasm]
OGG1 R46L [nucleoplasm]
OGG1 P266fs*139 [nucleoplasm]
OGG1 R131Q [nucleoplasm]
OGG1 R229Q [nucleoplasm]
OGG1 R46Q [nucleoplasm]
OGG1 R154H [nucleoplasm]
OGG1 D268N [nucleoplasm]
SOH-C326-OGG1 S326C [nucleoplasm]
OGG1 D268A [nucleoplasm]
OGG1 K249Q [nucleoplasm]
OGG1 S326C [nucleoplasm]
OGG1 A53T [nucleoplasm]
Modified Residues
Name
L-alanine 288 replaced with L-valine
Coordinate
288
PsiMod
L-valine residue [MOD:00029]
A protein modification that effectively converts a source amino acid residue to an L-valine.
L-alanine removal [MOD:01631]
A protein modification that effectively removes or replaces an L-alanine.
Disease
Name Identifier Synonyms
Alzheimer's disease DOID:10652 AD, Alzheimers dementia, Alzheimer disease
Cross References
RefSeq
Guide to Pharmacology - Targets
ClinGen
OpenTargets
ENSEMBL
IntEnz
GeneCards
HPA
PRO
Pharos - Targets
PDB
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