Variant position: 43 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 911 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 KHYVYIIRVTWSSGSTEAIY RRYSKFFDLQMQMLDKFPMEG
Mouse KHYVYIIRVTWSSGATEAIY RRYSKFFDLQMQMLDKFPMEG
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 – 911 SH3 and PX domain-containing protein 2B
5 – 129 PX
25 – 25 Phosphotyrosine
Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.
Iqbal Z.; Cejudo-Martin P.; de Brouwer A.; van der Zwaag B.; Ruiz-Lozano P.; Scimia M.C.; Lindsey J.D.; Weinreb R.; Albrecht B.; Megarbane A.; Alanay Y.; Ben-Neriah Z.; Amenduni M.; Artuso R.; Veltman J.A.; van Beusekom E.; Oudakker A.; Millan J.L.; Hennekam R.; Hamel B.; Courtneidge S.A.; van Bokhoven H.;
Am. J. Hum. Genet. 86:254-261(2010)
Cited for: TISSUE SPECIFICITY; VARIANT FTHS TRP-43;
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