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UniProtKB/Swiss-Prot P15941: Variant p.Ser1142Asn

Mucin-1
Gene: MUC1
Variant information

Variant position:  1142
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Serine (S) to Asparagine (N) at position 1142 (S1142N, p.Ser1142Asn).
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 medium size and polar (N)
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.



Sequence information

Variant position:  1142
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:   NQYKTEAASRYNLTISDVSV  S DVPFPFSAQSGAGVPGWGIA
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.

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 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.
Alternative sequence 1141 – 1180 VSDVPFPFSAQSGAGVPGWGIALLVLVCVLVALAIVYLIA -> GCLSVPPKELRAAGHLSSPGYLPSYERVPHLPHPWALCAP. In isoform M6.
Beta strand 1136 – 1142


Literature citations

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.