Variant position: 536 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 667 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 SHTPERFTSQGSYGVAGNVF IDSGRHYWEVVISGSTWYAIG
Mouse SHAPERFAGQGSYGVAGNVF IDSGRHYWEVVTSGSTWYAIG
Rat SHTPERFTSQGSYGVAGNVF IDSGRHYWEVVISGSTWYAIG
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 – 667 E3 ubiquitin-protein ligase Midline-1
482 – 659 B30.2/SPRY
Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.
Gaudenz K.; Roessler E.; Quaderi N.A.; Franco B.; Feldman G.J.; Gasser D.L.; Wittwer B.; Horst J.; Montini E.; Opitz J.M.; Ballabio A.; Muenke M.;
Am. J. Hum. Genet. 63:703-710(1998)
Cited for: VARIANTS GBBB1 ARG-266 AND THR-536;
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