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UniProtKB/Swiss-Prot Q2TAA5: Variant p.Tyr279Ser

GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase
Gene: ALG11
Variant information

Variant position:  279
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Tyrosine (Y) to Serine (S) at position 279 (Y279S, p.Tyr279Ser).
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 large size and aromatic (Y) to small size and polar (S)
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

Involvement in disease:  Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661]: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269|PubMed:20080937, ECO:0000269|PubMed:22213132}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In CDG1P.
Any additional useful information about the variant.

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



Sequence information

Variant position:  279
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  492
The length of the canonical sequence.

Location on the sequence:   SWTLNHILSLWKVGNCTNIV  Y PPCDVQTFLDIPLHEKKMTP
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                         SWTLNHILSLWK--VGNCTNIVYPPCDVQTFLDIPLHEKKMTP

Mouse                         SWTLNHILSLWK--VGHCTNIVYPPCDVQTFLDIPLHEKKV

Xenopus laevis                TWTFSHILDLWK--CSDRTSIVYPPCDVQTFLEIDINQHKE

Xenopus tropicalis            TWTFAHILDLWK--CSERTSIVYPPCDVQTFLDINLNQHKD

Zebrafish                     TWTLGHILALWR--TPNRTSVVYPPCDVQAFLDVPIGEDNE

Caenorhabditis elegans        SWTQRHITSIW---SRRDVSIVYPPCDVEAFLNIESVAESL

Slime mold                    TWTGNHIRDIWKKQFGYDLFIVYPPVDVKGRKQLKLGWMDG

Baker's yeast                 TWTNNHIKQIW---QSNTCKIIYPPCSTEKL--VDWKQKFG

Fission yeast                 SWTRNHIASLWG--KDIQLSVVFPPCNTSELEKIDINRKRE

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 – 492 GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase
Glycosylation 273 – 273 N-linked (GlcNAc...) asparagine


Literature citations

Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.
Thiel C.; Rind N.; Popovici D.; Hoffmann G.F.; Hanson K.; Conway R.L.; Adamski C.R.; Butler E.; Scanlon R.; Lambert M.; Apeshiotis N.; Thiels C.; Matthijs G.; Korner C.;
Hum. Mutat. 33:485-487(2012)
Cited for: VARIANTS CDG1P SER-279; PRO-318; SER-381 AND LYS-398;

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.