Variant position: 217 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 SGFLNNSWPLPQPPSPMPYA SCQMAAAAAAAAAAAAAAGPG
Mouse SGFLNNSWPLPQPPSPMPYA SCQMAAAAAAAAAAAAAAGPG
Pig SGFLNNSWPLPQPPSPMPYA SCQMAAAAAAAAAAAAAAGPG
Bovine SGFLNNSWPLPQPPSPMPYA SCQMAAAAAAAAAAAAAAGPG
Rabbit SGFLNNSWPLPQPPSPMPYA SCQMAAAAAAAAAAAAAAGPG
Goat SGFLNNSWPLPQPPSPMPYA SCQMAAAAAAAAAAAAAAGPG
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
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype --phenotype correlation.
De Baere E.; Dixon M.J.; Small K.W.; Jabs E.W.; Leroy B.P.; Devriendt K.; Gillerot Y.; Mortier G.; Meire F.; Van Maldergem L.; Courtens W.; Hjalgrim H.; Huang S.; Liebaers I.; Van Regemorter N.; Touraine P.; Praphanphoj V.; Verloes A.; Udar N.; Yellore V.; Chalukya M.; Yelchits S.; De Paepe A.; Kuttenn F.; Fellous M.; Veitia R.; Messiaen L.;
Hum. Mol. Genet. 10:1591-1600(2001)
Cited for: VARIANTS BPES ILE-85 DEL AND PHE-217;
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.
De Baere E.; Beysen D.; Oley C.; Lorenz B.; Cocquet J.; De Sutter P.; Devriendt K.; Dixon M.J.; Fellous M.; Fryns J.-P.; Garza A.; Jonsrud C.; Koivisto P.A.; Krause A.; Leroy B.P.; Meire F.; Plomp A.; Van Maldergem L.; De Paepe A.; Veitia R.; Messiaen L.;
Am. J. Hum. Genet. 72:478-487(2003)
Cited for: VARIANTS BPES PHE-106; LYS-109 AND PHE-217;
Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.
Beysen D.; Moumne L.; Veitia R.; Peters H.; Leroy B.P.; De Paepe A.; De Baere E.;
Hum. Mol. Genet. 17:2030-2038(2008)
Cited for: CHARACTERIZATION OF VARIANTS BPES LEU-58; VAL-66; LYS-69; THR-80; ASN-84; SER-90; GLY-98; ARG-101; THR-102; CYS-103; ARG-104; PHE-106; PRO-106; LYS-109 AND PHE-217;
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.