NucleaRDB: Extraction of mutation data from the literature

2005, NucleaRDB.

This data was extracted from Medline abstracts and full texts (when available) in an automated manner.

The table below describes the selected point mutation and provides links to other documents. The sentence(s) where the point mutation P12A was found are listed after the table.

The mutated residues are also indicated in the family sequence alignments and hyperlinked to the corresponding mutation pages.

Point mutation P12A in PPAT_HUMAN

Point mutation:	P12A
Cited point mutation:	Pro12Ala
Domain:	N-term
General numbering (NucleaRDB):	-
Protein:	PPAT_HUMAN (PPARG,NR1C)	Swiss-Prot Cross-reference table Family page
Protein isoforms	2
Other point mutations / same protein / same position	Point mutations at position 12 in PPAT_HUMAN
Other point mutations / same protein	List of mutations in PPAT_HUMAN
Family alignments	1C3 PPAR gamma 1C Peroxisome proliferator activated (PPAR) 1 Thyroid hormone like (TR,RAR,ROR,PPAR,VDR
Other point mutations / same position
Reference:	Pro12Ala polymorphism in the peroxisome proliferator-activated receptor-gamma2 (PPARgamma2) is associated with higher levels of total cholesterol and LDL-cholesterol in male caucasian type 2 diabetes patients. Zietz B, Barth N, Spiegel D, Schmitz G, Scholmerich J, Schaffler A Exp Clin Endocrinol Diabetes 2002 Apr;110(2):60-6.	Medline
Other point mutations / same article	List
Text source	abstract
Validation status	True positive

Relevant sentences:

Pro12Ala

Aim of our study was to determine the frequency of a missense point mutation within exon 2 of PPAR(gamma2) , Pro12Ala , and its possible association with metabolic parameters as well as diabetic retinopathy (in a population-based sample of 560 (318 male ad 242 female) type 2 diabetic patients
Pro12Ala polymorphism of PPAR(gamma2) gene is not associated with diabetic retinopathy but is associated with dyslipidemia in male type 2 diabetic patients.

F.Horn (nucleardbcmbi.kun.nl), 21-Apr-2005