Variant position: 626 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 ILLDYDNGSIAFYDALNSIH LYTFDVAFAQPVCPTFTVWNK
Mouse VLLDYDNGSIAFYDALSSVH LHTFHAALAQPVCPTFTVWNK
Rat ILLDYDNGSIAFYDALNSIH LYTFDVALAQPVCPTFTVWNK
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
553 – 667 Missing. In isoform 2.
New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome.
Cox T.C.; Allen L.R.; Cox L.L.; Hopwood B.; Goodwin B.; Haan E.; Suthers G.K.;
Hum. Mol. Genet. 9:2553-2562(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT GBBB1 PRO-626;
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