UniProtKB/Swiss-Prot Q02742: Variant p.Ile152Val

Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase
Gene: GCNT1
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Variant information Variant position:

152 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Isoleucine (I) to Valine (V) at position 152 (I152V, p.Ile152Val). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

3 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
Other resources:

Links to websites of interest for the variant.

Variant rs2282683 [ dbSNP | Ensembl ]

Sequence information Variant position:

152 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

428 The length of the canonical sequence.
Location on the sequence:

KIEMLDRLLRAIYMPQNFYC I HVDTKSEDSYLAAVMGIASC 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                         KIEMLDRLLRAIYMPQNFYCIHVDTKSEDSYLAAVMGIASC

Mouse                         KIEMLDRLLRAIYMPQNFYCIHVDRKAEESFLAAVQGIASC

Bovine                        KIEMLDRLLRAIYMPQNFYCIHVDAKSEKSFLAAAVGIASC

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
Chain	1 – 428	Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase
Topological domain	33 – 428	Lumenal
Region	122 – 428	Catalytic
Disulfide bond	59 – 413
Disulfide bond	100 – 172
Disulfide bond	151 – 199

Literature citations
Expression cloning of a cDNA encoding UDP-GlcNAc:Gal beta 1-3-GalNAc-R (GlcNAc to GalNAc) beta 1-6GlcNAc transferase by gene transfer into CHO cells expressing polyoma large tumor antigen.
Bierhuizen M.F.A.; Fukuda M.;
Proc. Natl. Acad. Sci. U.S.A. 89:9326-9330(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT VAL-152; FUNCTION; CATALYTIC ACTIVITY; PATHWAY; Genomic organization of core 2 and I branching beta-1,6-N-acetylglucosaminyltransferases. Implication for evolution of the beta-1,6-N-acetylglucosaminyltransferase gene family.
Bierhuizen M.F.A.; Maemura K.; Kudo S.; Fukuda M.;
Glycobiology 5:417-425(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT VAL-152;

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.