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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P15941: Variant p.Val1117Met

Mucin-1
Gene: MUC1
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Variant information Variant position: help 1117 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 Valine (V) to Methionine (M) at position 1117 (V1117M, p.Val1117Met). 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 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: 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 number of repeats is highly polymorphic. It varies from 21 to 125 in the northern European population. The most frequent alleles contains 41 and 85 repeats. The tandemly repeated icosapeptide underlies polymorphism at three positions: PAPGSTAP[PAQT]AHGVTSAP[DT/ES]R, DT -> ES and the single replacements P -> A, P -> Q and P-> T. The most frequent replacement DT -> ES occurs in up to 50% of the repeats. Additional information on the polymorphism described.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1117 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1255 The length of the canonical sequence.
Location on the sequence: help GSVVVQLTLAFREGTINVHD V ETQFNQYKTEAASRYNLTIS 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: 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 24 – 1255 Mucin-1
Chain 1098 – 1255 Mucin-1 subunit beta
Topological domain 24 – 1158 Extracellular
Domain 1039 – 1148 SEA
Glycosylation 1133 – 1133 N-linked (GlcNAc...) asparagine
Alternative sequence 54 – 1151 Missing. In isoform E2.
Alternative sequence 88 – 1139 Missing. In isoform F.
Alternative sequence 97 – 1255 Missing. In isoform ZD.
Alternative sequence 1077 – 1181 Missing. In isoform 9 and isoform S2.
Alternative sequence 1088 – 1255 Missing. In isoform 5.
Mutagenesis 1098 – 1098 S -> ADEFGHIKLMNPQRVWY. Completely abrogates cleavage.
Mutagenesis 1098 – 1098 S -> CT. Almost complete cleavage.
Mutagenesis 1116 – 1116 D -> A. Greatly reduced formation of isoform 5/isoform Y complex.
Mutagenesis 1116 – 1116 D -> E. No effect on formation of isoform 5/isoform Y complex.
Helix 1114 – 1132



Literature citations
Human mucin MUC1 RNA undergoes different types of alternative splicing resulting in multiple isoforms.
Zhang L.; Vlad A.; Milcarek C.; Finn O.J.;
Cancer Immunol. Immunother. 62:423-435(2013)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 6; E2; J13; M6; S2; T10; Y-LSP AND ZD); ALTERNATIVE SPLICING; VARIANT MET-1117; Soluble expression of peptide containing MUC1/Y-specific epitope in Escherichia coli and preparation of the antibody.
Zhang L.X.; Li C.H.; Sun L.Y.; Wang M.; Lu H.J.;
Sheng Wu Gong Cheng Xue Bao 19:337-342(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM Y); VARIANT MET-1117; Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS MET-1117 AND ASN-1142;
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.