Variant position: 98 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 SGIYQYIIAKFPFYEKNKKG WQNSIRHNLSLNECFIKVPRE
Mouse SGIYQYIIAKFPFYEKNKKG WQNSIRHNLSLNECFIKVPRE
Pig SGIYQYIIAKFPFYEKNKKG WQNSIRHNLSLNECFIKVPRE
Bovine SGIYQYIIAKFPFYEKNKKG WQNSIRHNLSLNECFIKVPRE
Rabbit SGIYQYIIAKFPFYEKNKKG WQNSIRHNLSLNECFIKVPRE
Goat SGIYQYIIAKFPFYEKNKKG WQNSIRHNLSLNECFIKVPRE
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;
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.