Sequence information
Variant position: 266 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:
QTCQHVEVNASRQEAKLTEE
C DLLIEIIQQRRQIIGTKIKE
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 QTCQHVEVNASRQEAKLTEEC DLLIEIIQQRRQIIGTKIKE
Mouse QTCQHVEVNASRQEAKLTEEC DLLIEIIQQRRQIIGTKIKE
Rat QTCQHVEVNASRQEAKLTEEC DLLIEIIQERRQIIGTKIKE
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
Chain
1 – 667
E3 ubiquitin-protein ligase Midline-1
Literature citations
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;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.