UniProtKB/Swiss-Prot P15941: Variant p.Val1117Met

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 1117 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 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: 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: 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: 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: Links to websites of interest for the variant.

• Variant rs1611770 [ dbSNP | Ensembl ]

Sequence information

Variant position: 1117 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1255 The length of the canonical sequence.
Location on the sequence: 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: 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	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;