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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99102: Variant p.Ala4821Ser

Mucin-4
Gene: MUC4
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Variant information Variant position: help 4821 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Alanine (A) to Serine (S) at position 4821 (A4821S, p.Ala4821Ser). 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: help Change from small size and hydrophobic (A) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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

Polymorphism: help The variable number of tandem repeats (VNTR) region, an array of serine- and threonine-rich tandem repeats, is encoded by a single exon (exon 2) which is highly polymorphic. Additional information on the polymorphism described.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 4821 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 5412 The length of the canonical sequence.
Location on the sequence: help SASFDGWATVSVIALSNILH A SASLPPEYQNRTEGLLGVWN 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         SASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWN

Mouse                         SANFDGTVTISVIARSNILHASSSLSEEYRNHTEGLLGVWN

Rat                           SANFDGTVTISVIALSNILHASSSLSEEYRNHTKGLLGVWN

Sequence annotation in neighborhood: help 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 29 – 5412 Mucin-4
Chain 4688 – 5412 Mucin-4 beta chain
Domain 4680 – 4880 VWFD
Glycosylation 4831 – 4831 N-linked (GlcNAc...) asparagine
Alternative sequence 4351 – 5412 Missing. In isoform 9.
Alternative sequence 4401 – 5412 Missing. In isoform 2.
Alternative sequence 4421 – 5412 Missing. In isoform 15.
Alternative sequence 4431 – 5412 Missing. In isoform 11.
Alternative sequence 4443 – 5412 Missing. In isoform 8.
Alternative sequence 4445 – 5412 Missing. In isoform 7.
Alternative sequence 4511 – 5412 Missing. In isoform 5.
Alternative sequence 4597 – 4822 Missing. In isoform 17.
Alternative sequence 4628 – 5412 Missing. In isoform 16.



Literature citations
Cloning, chromosomal localization and characterization of the murine mucin gene orthologous to human MUC4.
Desseyn J.-L.; Clavereau I.; Laine A.;
Eur. J. Biochem. 269:3150-3159(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS PRO-41; ASP-4324 AND SER-4821;
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.