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 C356L 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 C356L in RORA_HUMAN

Point mutation:	C356L
Cited point mutation:	C323L
Domain:	LBD HELIX 3
General numbering (NucleaRDB):	335
Protein:	RORA_HUMAN (RORA,NR1F1, RZR)	Swiss-Prot Cross-reference table Family page
Protein isoforms	4
Other point mutations / same protein	List of mutations in RORA_HUMAN
Family alignments	1F1 ROR alpha 1F RAR-related orphan receptor (ROR,HR3) 1 Thyroid hormone like (TR,RAR,ROR,PPAR,VDR
Other point mutations / same position	Position 218 in 1 Thyroid hormone like (TR,RAR,ROR,PPAR,VDR family
Reference:	Crystal structure of the human RORalpha Ligand binding domain in complex with cholesterol sulfate at 2.2 A. Kallen J, Schlaeppi JM, Bitsch F, Delhon I, Fournier B J Biol Chem 2004 Apr 2;279(14):14033-8. Epub 2004 Jan 13.	Medline
Other point mutations / same article	List
Text source	HTML full text
Validation status	Not yet checked

Relevant sentences:

C323L

The ROR alpha mutants C228Q , A330Q , A371Q , C323L , and K339A , E509A were generated using a QuikChange XL site-directed mutagenesis kit from Stratagene (La Jolla , CA)
The triple mutant A330Q , A371Q , C323L (designed to prevent binding of cholesterol and cholesterol sulfate in the LBP) showed a reduced activity (Fig. 3A ) consistent with the results obtained previously for the single mutants A330L , A371Q , and C323L (3 )

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