Variant position: 33 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 124 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 VQRVEIHKLRQGENLILGFS IGGGIDQDPSQNPFSEDKTDK
Mouse VQRVEIHKLRQGENLILGFS IGGGIDQDPSQNPFSEDKTDK
Rat VQRVEIHKLRQGENLILGFS IGGGIDQDPSQNPFSEDKTDK
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
2 – 124 Tax1-binding protein 3
15 – 112 PDZ
20 – 20 K -> A. Abolishes interaction with KCNJ4.
30 – 35
Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia.
Reinstein E.; Orvin K.; Tayeb-Fligelman E.; Stiebel-Kalish H.; Tzur S.; Pimienta A.L.; Bazak L.; Bengal T.; Cohen L.; Gaton D.D.; Bormans C.; Landau M.; Kornowski R.; Shohat M.; Behar D.M.;
Hum. Mutat. 36:439-442(2015)
Cited for: VARIANT THR-33; TISSUE SPECIFICITY;
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