Variant position: 106 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 AKFPFYEKNKKGWQNSIRHN LSLNECFIKVPREGGGERKGN
Mouse AKFPFYEKNKKGWQNSIRHN LSLNECFIKVPREGGGERKGN
Pig AKFPFYEKNKKGWQNSIRHN LSLNECFIKVPREGGGERKGN
Bovine AKFPFYEKNKKGWQNSIRHN LSLNECFIKVPREGGGERKGN
Rabbit AKFPFYEKNKKGWQNSIRHN LSLNECFIKVPREGGGERKGN
Goat AKFPFYEKNKKGWQNSIRHN LSLNECFIKVPREGGGERKGN
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
54 – 148 Fork-head
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;
Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome.
Beysen D.; De Jaegere S.; Amor D.; Bouchard P.; Christin-Maitre S.; Fellous M.; Touraine P.; Grix A.W.; Hennekam R.; Meire F.; Oyen N.; Wilson L.C.; Barel D.; Clayton-Smith J.; de Ravel T.; Decock C.; Delbeke P.; Ensenauer R.; Ebinger F.; Gillessen-Kaesbach G.; Hendriks Y.; Kimonis V.; Laframboise R.; Laissue P.; Leppig K.; Leroy B.P.; Miller D.T.; Mowat D.; Neumann L.; Plomp A.; Van Regemorter N.; Wieczorek D.; Veitia R.A.; De Paepe A.; De Baere E.;
Hum. Mutat. 29:E205-E219(2008)
Cited for: VARIANTS BPES LEU-58; VAL-65; VAL-66; LYS-69; THR-80; ASN-84; SER-90; GLY-98; ARG-101; THR-102; CYS-103 AND PRO-106;
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