UniProtKB/Swiss-Prot Q9NYU1: Variant p.Ser328Ala

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 328 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 Serine (S) to Alanine (A) at position 328 (S328A, p.Ser328Ala). 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 polar (S) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 1 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 rs816142 [ dbSNP | Ensembl ]

Sequence information

Variant position: 328 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1516 The length of the canonical sequence.
Location on the sequence: ELQDLSFQAASQIMSAPVYD S IKLMKDISQNFPIKARSLTR 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.
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	28 – 1516	UDP-glucose:glycoprotein glucosyltransferase 2
Alternative sequence	279 – 1516	Missing. In isoform 2.

Literature citations

Two homologues encoding human UDP-glucose:glycoprotein glucosyltransferase differ in mRNA expression and enzymatic activity.
Arnold S.M.; Fessler L.I.; Fessler J.H.; Kaufman R.J.;
Biochemistry 39:2149-2163(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; VARIANTS THR-323; ALA-328; THR-821 AND LEU-994; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2); VARIANTS ALA-328 AND LEU-994; Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage.
Klar J.; Piontek J.; Milatz S.; Tariq M.; Jameel M.; Breiderhoff T.; Schuster J.; Fatima A.; Asif M.; Sher M.; Maebert K.; Fromm A.; Baig S.M.; Guenzel D.; Dahl N.;
PLoS Genet. 13:E1006897-E1006897(2017)
Cited for: VARIANT ALA-328;