Variant position: 187 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 376 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human FGAGGAAGGCGVAGAGADGY GYLAPPKYLQSGFLNNSWPLP
Mouse FGSGGAAGGCGVPGAGADGY GYLAPPKYLQSGFLNNSWPLP
Pig FGAGGAAGGCGVAGAGADGY GYLAPPKYLQSGFLNNSWPLP
Bovine FGAGGAAGGCGVAGAGADGY GYLAPPKYLQSGFLNNSWPLP
Rabbit FGAAGAAGGCGVAGAGADGY GYLAPPKYLQSGFLNNSWPLP
Goat FGAGGAAGGCGVAGAGADGY GYLAPPKYLQSGFLNNSWPLP
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 376 Forkhead box protein L2
Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2.
Laissue P.; Lakhal B.; Benayoun B.A.; Dipietromaria A.; Braham R.; Elghezal H.; Philibert P.; Saad A.; Sultan C.; Fellous M.; Veitia R.A.;
J. Med. Genet. 46:455-457(2009)
Cited for: FUNCTION AS TRANSCRIPTIONAL ACTIVATOR OF OSR2; VARIANT POF3 ASP-187; CHARACTERIZATION OF VARIANT POF3 ASP-187;
FOXL2 mutation screening in a large panel of POF patients and XX males.
De Baere E.; Lemercier B.; Christin-Maitre S.; Durval D.; Messiaen L.; Fellous M.; Veitia R.;
J. Med. Genet. 39:E43-E43(2002)
Cited for: VARIANTS ASP-187 AND SER-285;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.