Variant position: 222 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 YLYVAPAY-GVYLLRSYCFTA NKPDGSIRWK-----------SFS---FVRVISLG
Mouse YLYVAPAY-GVYLLRSYCFTA SKPDGSVRWS----------
Bovine YLYVAPAY-GVYLLRSYCFTA NKQDGSIRWN----------
Caenorhabditis elegans YVYYALGYVFYYLVNYFQFSG NVLLAN--------------
Drosophila FLYMAPAF-GVYLLRFYCLEQ ASVVSA--------------
Slime mold YMYMAPAF-FVYLLKYYCLKS NLNDNTTSKVNHSKQQQQQE
Baker's yeast FLYLAPCY-FVFLLRAYVLNV NNFKFKSYKD----------
Fission yeast FLYVAPAY-FVYLLRVYCFTP NFRPQ---------------
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
Characterization of 16 novel human genes showing high similarity to yeast sequences.
Stanchi F.; Bertocco E.; Toppo S.; Dioguardi R.; Simionati B.; Cannata N.; Zimbello R.; Lanfranchi G.; Valle G.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT SER-222;
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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