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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01871: Variant p.Val215Gly

Immunoglobulin heavy constant mu
Gene: IGHM
Variant information Variant position: help 215 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 Glycine (G) at position 215 (V215G, p.Val215Gly). 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 medium size and hydrophobic (V) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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

Polymorphism: help There are several alleles. The sequence shown is that of IMGT allele IGHM*04. Additional information on the polymorphism described.
Other resources: help Links to websites of interest for the variant.

Sequence information Variant position: help 215 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 474 The length of the canonical sequence.
Location on the sequence: help FTCRVDHRGLTFQQNASSMC V PDQDTAIRVFAIPPSFASIF 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.





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.
Chain 1 – 474 Immunoglobulin heavy constant mu
Topological domain 1 – 450 Extracellular
Region 106 – 217 CH2
Glycosylation 209 – 209 N-linked (GlcNAc...) (complex) asparagine
Disulfide bond 214 – 214 Interchain (with heavy chain)

Literature citations
The primary structure of mu-chain-disease protein BOT. Peculiar amino-acid sequence of the N-terminal 42 positions.
Barnikol-Watanabe S.; Mihaesco E.; Mihaesco C.; Barnikol H.U.; Hilschmann N.;
Hoppe-Seyler's Z. Physiol. Chem. 365:105-118(1984)
Cited for: PROTEIN SEQUENCE OF 104-453; VARIANT GLY-215;
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.