Variant position: 90 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 319 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 GKPPYSYIALIAMALAHAPG RRLTLAAIYRFITERFAFYRD
Mouse GKPPYSYIALIAMALAHAPG RRLTLAAIYRFITERFAFYRD
Rat GKPPYSYIALIAMALAHAPG RRLTLAAIYRFITERFAFYRD
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 – 319 Forkhead box protein E3
71 – 165 Fork-head
Foxe3 haploinsufficiency in mice: a model for Peters' anomaly.
Ormestad M.; Blixt A.; Churchill A.; Martinsson T.; Enerback S.; Carlsson P.;
Invest. Ophthalmol. Vis. Sci. 43:1350-1357(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ASMD LEU-90;
Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease.
Islam L.; Kelberman D.; Williamson L.; Lewis N.; Glindzicz M.B.; Nischal K.K.; Sowden J.C.;
Hum. Mutat. 36:296-300(2015)
Cited for: FUNCTION; SUBCELLULAR LOCATION; VARIANTS CPA LEU-90 AND GLY-120; CHARACTERIZATION OF VARIANTS CPA LEU-90 AND GLY-120;
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