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 L439A 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 L439A in NR1H3_HUMAN

Point mutation:	L439A
Domain:	LBD HELIX 12
General numbering (NucleaRDB):	1248
Protein:	NR1H3_HUMAN (NR1H3,LXR)	Swiss-Prot Cross-reference table Family page
Protein isoforms	2
Other point mutations / same protein	List of mutations in NR1H3_HUMAN
Family alignments	1H3 Oxysterol LXR alpha 1H Ecdysone-like (ECR,LXR,FXR) 1 Thyroid hormone like (TR,RAR,ROR,PPAR,VDR
Other point mutations / same position	Position 543 in 1H Ecdysone-like (ECR,LXR,FXR) family Position 401 in 1 Thyroid hormone like (TR,RAR,ROR,PPAR,VDR family
Reference:	Molecular determinants of LXRalpha agonism. Wang M, Thomas J, Burris TP, Schkeryantz J, Michael LF J Mol Graph Model 2003 Nov;22(2):173-81.	Medline
Other point mutations / same article	List
Text source	HTML full text
Validation status	Not yet checked

Relevant sentences:

L439A

The sense strand oligonucleotide sequences are as follows: F254A GGCCCGTCAGCAGCGCGCTGCCCACTTCACTGAGC F257A GCAGCGCTTTGCCCACGCCACTGAGCTGGCCATC M298A GACCTCTGCGATCGAGGTGGCGCTTCTGGAGACATCTCG L299A GCGATCGAGGTGATGGCTCTGGAGACATCTCGGAGG E301A CGAGGTGATGCTTCTGGCGACATCTCGGAGGTACAACC T302A GCTTCTGGAGGCATCTCGGAGGTACAACC R305L GCTTCTGGAGACATCTCGGCTGTACAACCCTGGG F315A CACTTCCTCAAGGATGCCAGTTATAACCGGGAAG L316A GGAGTGAGAGTATCACCTTCGCCAAGGATTTCAGTTATAACCGGG L331A GGAAGACTTTGCCAAAGCAGGGGCGCAAGTGGAATTCATCAA F335A GCAGGGCTGCAAGTGGAAGCCATCAACCCCATCTTCG H421A GGACCCTGAGCAGCGTCGCCTCAGAGCAAGTGTTTGC Q424A GCAGCGTCCACTCAGAGGCAGTGTTTGCACTGCGTCTGC L439A GCTCCCACCGCTGGCCTCTGAGATCTGGGATGTGC I442A GCTGCACATCCCAGGCCTCAGAGAGCAGCGGTGGG W443Y CACCGCTGCTCTCTGAGATCTACGATGTGCACGAATG Mutagenesis was confirmed by sequence analysis
Seven mutants , F254A , F257A , M298A , L331A , F335A , L439A and I442A , decrease LXR alpha LBD transcriptional responses by 70– ; 99% for all three compounds , demonstrating common space occupied by all structural classes

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