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 V318M 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 V318M in PPAT_HUMAN

Point mutation:	V318M
Cited point mutation:	V290M
Domain:	LBD HELIX 3
General numbering (NucleaRDB):	340
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 318 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	Position 288 in 1C3 PPAR gamma family Position 281 in 1C Peroxisome proliferator activated (PPAR) family Position 223 in 1 Thyroid hormone like (TR,RAR,ROR,PPAR,VDR family
Reference:	Effect of the peroxisome proliferator-activated receptor-gamma 2 pro(12)ala variant on obesity, glucose homeostasis, and blood pressure in members of familial type 2 diabetic kindreds. Hasstedt SJ, Ren QF, Teng K, Elbein SC J Clin Endocrinol Metab 2001 Feb;86(2):536-41.	Medline
Other point mutations / same article	List
Text source	HTML and PDF full texts
Validation status	True positive

Relevant sentences:

V290M

In contrast , recently described naturally occurring human substitutions P467L and V290M , which inhibit PPAR{ gamma} trans-activation in a dominant negative fashion , cause insulin resistance , hypertension , hypertriglyceridemia , and early-onset diabetes (9 )
In contrast , recently described naturally occurring human substitutions P467L and V290M , which inhibit PPAR trans-activation in a dominant negative fashion , cause insulin resistance , hypertension , hypertriglyceridemia , and early-onset diabetes (9)

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