Variant position: 295 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 QRRQIIGTKIKEGKVMRLRK LAQQIANCKQCIERSASLISQ
Mouse QRRQIIGTKIKEGKVIRLRK LAQQIANCKQCLERSASLISQ
Rat ERRQIIGTKIKEGKVMRLRK LAQQIANCKQCIERSASLISQ
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
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.
So J.; Suckow V.; Kijas Z.; Kalscheuer V.; Moser B.; Winter J.; Baars M.; Firth H.; Lunt P.; Hamel B.C.J.; Meinecke P.; Moraine C.; Odent S.; Schinzel A.; van der Smagt J.J.; Devriendt K.; Albrecht B.; Gillessen-Kaesbach G.; van der Burgt I.; Petrij F.; Faivre L.; McGaughran J.; McKenzie F.; Opitz J.M.; Cox T.; Schweiger S.;
Am. J. Med. Genet. A 132:1-7(2005)
Cited for: VARIANTS GBBB1 PRO-295 AND 391-LEU-CYS-392 DELINS ARG;
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