Variant position: 275 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 PFLA---LNQLPQVFSRLFPFKR GLCHAYWAPNFWALYNALDKV
Mouse PFLA---LNQLPQVFSRLFPFKR GLCHAYWAPNFWALYNAL
Bovine PFLA---LNQLPQVFSRLFPFKR GLCHAYWAPNFWALYSAF
Caenorhabditis elegans PFIHASGVQGLQNIATRLFPVSR GLTHAYWAPNFWALYNFA
Drosophila PFWQ-----QLPQVLSRLFPFKR GLTHAYWAPNFWALYNAA
Slime mold PFFY---MGQIQQLISRLFPFGR GLSHAYWAPNFWSIYNFL
Baker's yeast PFAH-----QMPQVLSRLFPFSR GLTHAYWAPNFWALYSFM
Fission yeast PWIY---MKQIPQLLSRLFPFSR GLCHAYWAPNFWALYSFV
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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