Variant position: 248 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 545 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 TSYQNHKITQLKIENNPFAK GFRGSDDSDLRVARLQSKEYP
Mouse TSYQNHKITQLKIENNPFAK GFRGSDDSDLRVARLQSKEYP
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 – 545 T-box transcription factor TBX4
71 – 251 T-box
Mutations in the human TBX4 gene cause small patella syndrome.
Bongers E.M.H.F.; Duijf P.H.G.; van Beersum S.E.M.; Schoots J.; van Kampen A.; Burckhardt A.; Hamel B.C.J.; Losan F.; Hoefsloot L.H.; Yntema H.G.; Knoers N.V.A.M.; van Bokhoven H.;
Am. J. Hum. Genet. 74:1239-1248(2004)
Cited for: VARIANTS SPS VAL-248 AND ARG-531; VARIANTS ALA-6 AND VAL-35;
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