Variant position: 47 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 526 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 LLIPTYHSTDFEVHRNWLAI THSLPISQWYYEATSEWTLDY
Mouse LLIPTYHSTDFEVHRNWLAI THSLPISQWYYEATSEWTLDY
Bovine LLIPTYHSTDFEVHRNWLAI THSLPISQWYYEATSEWTLDY
Caenorhabditis elegans LLIPAYVSTDFEVHRNWMAV TWQRPLCEWYTEATSEWTLDY
Drosophila LLIPAYHSTDFEVHRNWLAI THSLPLNQWYVDATSEWTLDY
Slime mold LLIPSYLSTDFEVHRNWLAI TSSLPISKWYFENTSEWTLDY
Baker's yeast LLIPDYFSTDFDVHRNWLAI TNKLPISEWYYEHTSQWTLDY
Fission yeast FLFPSYRSTDFEVHRNWLAI THSLPISEWYKSSISEWTLDY
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 – 526 Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase
Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).
Schollen E.; Frank C.G.; Keldermans L.; Reyntjens R.; Grubenmann C.E.; Clayton P.T.; Winchester B.G.; Smeitink J.; Wevers R.A.; Aebi M.; Hennet T.; Matthijs G.;
J. Med. Genet. 41:550-556(2004)
Cited for: VARIANTS CDG1H PRO-47 AND ASP-275; VARIANT SER-222;
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