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UniProtKB/Swiss-Prot Q9Y672: Variant p.Gly227Glu

Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase
Gene: ALG6
Variant information

Variant position:  227
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Glycine (G) to Glutamate (E) at position 227 (G227E, p.Gly227Glu).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from glycine (G) to medium size and acidic (E)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In CDG1C.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  227
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  507
The length of the canonical sequence.

Location on the sequence:   ALPFFCFLLGKCFKKGLKGK  G FVLLVKLACIVVASFVLCWL
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                         ALPFFCFLLGKCFKKGLKGK----GFVLLVKLACIVVASFVLCWL

Mouse                         SLPFFCFLLGKCFKKGLKGK----GLALFIRIACTVLASFL

Rat                           SLPFFCFLLGKCFKKGLRGK----GSALFIRIACTVVASFL

Chicken                       SLPFFCYLLGKCFKKGLKGK----GLLLLIKLAGTVVASFA

Caenorhabditis elegans        ALPVFVFILARSINKTQLFN----SFRRILTIGLFVVGTFL

Drosophila                    SLPFFAFLLGECVSQKSFAS----FIAEISRIAAVVLGTFA

Slime mold                    SPAFFFYLLLSNFEFTLKFSKIFSSIFKILKIGIVVIFTFI

Baker's yeast                 APIFFAYLLSRSLLFPKF------NIARLTVIAFATLATFA

Fission yeast                 APPIFFYLLGTCVKPKIRFS-------RFILLSVTVVFTFS

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.

TypePositionsDescription
Chain 1 – 507 Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase
Transmembrane 227 – 247 Helical


Literature citations

DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).
Schollen E.; Martens K.; Geuzens E.; Matthijs G.;
Eur. J. Hum. Genet. 10:643-648(2002)
Cited for: VARIANT CDG1C GLU-227;

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.