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 L172X 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 L172X in ANDR_HUMAN

Point mutation:	L172X
Domain:	N-term
General numbering (NucleaRDB):	-
Protein:	ANDR_HUMAN (AR,DHTR, NR3C)	Swiss-Prot Cross-reference table Family page
Other point mutations / same protein	List of mutations in ANDR_HUMAN
Family alignments	3C4 Androgen (AR) 3C Glucocorticoid-like (GR,MR,PR,AR) 3 Estrogen like (ER,ERR,GR,MR,PR,AR)
Other point mutations / same position
Reference:	Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene. Melo KF, Mendonca BB, Billerbeck AE, Costa EM, Inacio M, Silva FA, Leal AM, Latronico AC, Arnhold IJ J Clin Endocrinol Metab 2003 Jul;88(7):3241-50.	Medline
Other point mutations / same article	List
Text source	HTML full text
Validation status	Not yet checked

Relevant sentences:

L172X

Nonsense mutations of the AR gene , are associated with CAIS , except in a subject with PAIS with the L172X mutation , in whom the blunted phenotype was thought to result from the expression of a wild-type allele due to mosaicism (32 )

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