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UniProtKB/Swiss-Prot Q9Y672: Variant p.Ala333Val

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

Variant position:  333
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 Alanine (A) to Valine (V) at position 333 (A333V, p.Ala333Val).
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 small size and hydrophobic (A) to medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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:  333
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:   CIKLILQPSSKGFKFTLVSC  A LSFFLFSFQVHEKSILLVSL
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                         CIKLILQPSSK-GFKFTLVSCALSFFLFSFQVHEKSILLVSL

Mouse                         CIKLTVRPSCK-GFRFTLVSCALSFFLFSFQVHEKSILLVS

Rat                           CIKLTVQPSAK-GFRFTLVSCALSFFLFSFQVHEKSILLVS

Chicken                       CIKLTVQPSLR-GFKLTLVSCALSFFLFSFQVHEKSILLVS

Caenorhabditis elegans        LLVLFLRPTEK-QFRISLTATGLSFFLFSFHVHEKTILLAA

Drosophila                    NVLLFRRRTNV-GFLLALFNTSLAFFLFSFQVHEKTILLTA

Slime mold                    VYGIKRIPKNKFVFIHSLINSSFSFFLFSFQVHEKTILLVS

Baker's yeast                 MIMTLLHPKKH-LLPYVLIACSMSFFLFSFQVHEKTILIPL

Fission yeast                 CVILFLYPRKR-LLALGFASASWGFFLFSFQVHEKSVLLPL

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 324 – 344 Helical


Literature citations

A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.
Imbach T.; Burda P.; Kuhnert P.; Wevers R.A.; Aebi M.; Berger E.G.; Hennet T.;
Proc. Natl. Acad. Sci. U.S.A. 96:6982-6987(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT CDG1C VAL-333; VARIANT PHE-304;

Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation.
Westphal V.; Murch S.; Kim S.; Srikrishna G.; Winchester B.; Day R.; Freeze H.H.;
Am. J. Pathol. 157:1917-1925(2000)
Cited for: VARIANTS CDG1C HIS-131; ARG-308 AND VAL-333;

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.
Imbach T.; Gruenewald S.; Schenk B.; Burda P.; Schollen E.; Wevers R.A.; Jaeken J.; de Klerk J.B.C.; Berger E.G.; Matthijs G.; Aebi M.; Hennet T.;
Hum. Genet. 106:538-545(2000)
Cited for: VARIANTS CDG1C VAL-333 AND PRO-478; VARIANT PHE-304;

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.