Variant position: 65 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 373 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 RKRPLQRGKPPYSYIALIAM AIAHAPERRLTLGGIYKFITE
Mouse RKRPLQRGKPPYSYIALIAM AIAHAPERRLTLGGIYKFITE
Xenopus laevis RKRPLQKGKPPYSYIALIAM SIANSADRKLTLGGIYKFITE
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 – 373 Forkhead box protein E1
53 – 147 Fork-head
Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia.
Clifton-Bligh R.J.; Wentworth J.M.; Heinz P.; Crisp M.S.; John R.; Lazarus J.H.; Ludgate M.; Chatterjee V.K.;
Nat. Genet. 19:399-401(1998)
Cited for: FUNCTION; INVOLVEMENT IN BLS; VARIANT BLS VAL-65; CHARACTERIZATION OF VARIANT BLS VAL-65;
MSX1 and TGF-beta3 are novel target genes functionally regulated by FOXE1.
Venza I.; Visalli M.; Parrillo L.; De Felice M.; Teti D.; Venza M.;
Hum. Mol. Genet. 20:1016-1025(2011)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS BLS ASN-57 AND VAL-65; CHARACTERIZATION OF VARIANTS CONGENITAL HYPOTHYROIDISM CYS-102 AND SER-137;
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.
Castanet M.; Park S.M.; Smith A.; Bost M.; Leger J.; Lyonnet S.; Pelet A.; Czernichow P.; Chatterjee K.; Polak M.;
Hum. Mol. Genet. 11:2051-2059(2002)
Cited for: VARIANT BLS ASN-57; CHARACTERIZATION OF VARIANT BLS ASN-57 AND VAL-65; FUNCTION;
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.