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 R305L 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 R305L in NR1H3_HUMAN

Point mutation:	R305L
Domain:	LBD HELIX 5
General numbering (NucleaRDB):	559
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 407 in 1H Ecdysone-like (ECR,LXR,FXR) family Position 266 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:

R305L

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
We propose an interaction between the C22 hydroxyl group of 22RHC with the Nrounded small epsilon , Greek of R305 ( Fig. 3B ) , namely , because the substitution R305L abrogates transcriptional activation by 22RHC (Fig. 2A )
R305L also causes a significant decrease in the transcriptional response to GW3965 in this study , suggesting that the ether oxygen of GW3965 could accept the hydrogen bond from R305
By contrast , T0901317 does not offer a hydrogen bond donor or acceptor that could participate in the interaction with R305 , and the response of R305L to T0901317 is not as pronounced as compared to GW3965 and 22RHC

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