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 Q58L 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 Q58L in ANDR_HUMAN

Point mutation:	Q58L
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:	A novel sequence variation in the transactivation regulating domain of the androgen receptor in two infertile Finnish men. Lund A, Juvonen V, Lahdetie J, Aittomaki K, Tapanainen JS, Savontaus ML Fertil Steril 2003 Jun;79 Suppl 3:1647-8.	Medline
Other point mutations / same article	List
Text source	abstract
Validation status	True positive

Relevant sentences:

Q58L

RESULT(S):A new 173A --> T (Q58L) substitution at the beginning of the CAG repeat in the transactivation-regulating domain of the androgen receptor was found in 2 infertile Finnish men but not in 60 other infertile men or 60 controls
CONCLUSION(S): As the polyglutamine tract coded by the CAG repeat is crucial to spermatogenesis , the 173A --> T (Q58L) substitution might be the cause of infertility in these two Finnish men.

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