UniProtKB/Swiss-Prot Q685J3: Variant p.Cys1375Arg

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 1375 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 Cysteine (C) to Arginine (R) at position 1375 (C1375R, p.Cys1375Arg). 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 medium size and polar (C) to large size and basic (R) 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 rs4367469 [ dbSNP | Ensembl ]

Sequence information

Variant position: 1375 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 4493 The length of the canonical sequence.
Location on the sequence: SILSTTPVDNSTPVTTSTEA C SSPTTSEGTSMPNSNPSEGT 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	26 – 4493	Mucin-17
Topological domain	26 – 4393	Extracellular
Repeat	1365 – 1423	21
Region	185 – 3727	59 X approximate tandem repeats
Region	1360 – 1516	Disordered

Literature citations

Molecular cloning of human MUC3 cDNA reveals a novel 59 amino acid tandem repeat region.
Van Klinken B.J.-W.; Van Dijken T.C.; Oussoren E.; Buller H.A.; Dekker J.; Einerhand A.W.;
Biochem. Biophys. Res. Commun. 238:143-148(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1347-1582; TISSUE SPECIFICITY; VARIANTS PRO-1348; ARG-1375 AND ALA-1480;