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:	Analysis of the Relationship between PPAR-gamma 2 Gene Variants and Severe Insulin Resistance in Obese Patients with Impaired Glucose Tolerance. Bluher M, Paschke R Exp Clin Endocrinol Diabetes 2003 Apr;111(2):85-90.	Medline
Other point mutations / same article	List
Text source	abstract
Validation status	True positive

Relevant sentences:

Pro12Ala

The Pro115 Gln , Pro12Ala , Pro467Leu , Val290Met and a silent polymorphism C478 T were examined in 48 subjects with IGT and insulin resistance (IR) , characterized by euglycemic hyperinsulinemic clamps , and in 52 healthy insulin sensitive (IS) controls
The Pro12Ala variant was not associated with differences in BMI , in the degree of insulin resistance between the IR and IS group
In conclusion , the Pro115 Gln variant , but not the Pro12Ala mutation in the PPAR-gamma 2 gene , could be a rare cause of severe insulin resistance.

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