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 P27S 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 P27S in PXR_HUMAN

Point mutation:	P27S
Domain:	N-term
General numbering (NucleaRDB):	-
Protein:	PXR_HUMAN (NR1I2,PX)	Swiss-Prot Cross-reference table Family page
Protein isoforms	6
Other point mutations / same protein	List of mutations in PXR_HUMAN
Family alignments	1I2 Pregnane X (PXR) 1I Vitamin D3-like (VDR,PXR,CAR) 1 Thyroid hormone like (TR,RAR,ROR,PPAR,VDR
Other point mutations / same position
Reference:	Natural protein variants of pregnane X receptor with altered transactivation activity toward CYP3A4. Hustert E, Zibat A, Presecan-Siedel E, Eiselt R, Mueller R, Fuss C, Brehm I, Brinkmann U, Eichelbaum M, Wojnowski L, Burk O Drug Metab Dispos 2001 Nov;29(11):1454-9.	Medline
Other point mutations / same article	List
Text source	HTML and PDF full texts
Validation status	True positive

Relevant sentences:

P27S

Three variants (V140M , D163G , and A370T) are located within or close to the putative ligand-binding domain (LBD) of PXR and three (E18K , P27S , and G36R) in its N-terminal part
The most frequent protein polymorphism (P27S) occurs in 14.9% African chromosomes
Western blot analysis of LS174T cells transiently transfected with these plasmids showed that the plasmids encoding the variants P27S , D163G , A370T , and PXR-2 directed the expression of similar amounts of protein compared with wild-type , whereas E18K , G36R , and V140M were expressed slightly weaker (Fig. 2 )
Irrespective of the reporter construct used , variants located N terminal of the DNA-binding domain of PXR (E18K , P27S , and G36R) had no statistically significant impact on the basal activity in comparison to wild-type PXR (Fig. 3 A , B)
The numbers of independent transfection experiments done with the different PXR expression plasmids in combination with either reporter gene were as follows: E18K , P27S , G36R (2) ; V140M , D163G , PXR-2 (3) , A370T (4) , wt (5)
The variants E18K and P27S stimulated transcription of both reporter genes nearly as efficiently as wild-type PXR following the rifampicin or corticosterone treatment (Fig. 3 , C and D)
The three variants caused by single amino acid substitutions , which TABLE 1 Allelic frequencies of PXR protein variants in Caucasians and Africans Varianta Effect WT Sequenceb (5 -3 ) Mutation Sequenceb (5 -3 ) Caucasians Africans N % N % Exon 2 c.52G A E18K ACTGT GAGGAC ACTGT AAGGAC 300 0.0 74 1.4 c.79C T P27S GAAAG CCCAGT GAAAG TCCAGT 300 0.0 74 14.9 c.106G A G36R AAGTC GGAGGT AAGTC GGAGGT 300 3.0 74 0.0 Exon 4 c.418G A V140M TGGGA GTGCAG TGGGA ATGCAG 418 0.2 74 0.0 c.488A G D163G CTTTG ACACTA CTTTG GCACTA 418 0.0 74 1.4 Exon 8 c.1108G A A370T AATTC GCCATT AATTC ACCATT 312 0.0 64 1.6 WT , wild-type ; N , number of chromosomes analyzed

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