UniProtKB/Swiss-Prot P01764: Variant p.Val24Leu

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 24 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 Leucine (L) at position 24 (V24L, p.Val24Leu). 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: There are several alleles. The sequence shown is that of IMGT allele IGHV3-23*04. Additional information on the polymorphism described.
Variant description: In IMGT allele IGHV3-23*02. Any additional useful information about the variant.

Sequence information

Variant position: 24 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 117 The length of the canonical sequence.
Location on the sequence: GLSWLFLVAILKGVQCEVQL V ESGGGLVQPGGSLRLSCAAS 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	20 – 117	Immunoglobulin heavy variable 3-23
Domain	20 – 117	Ig-like
Beta strand	22 – 26

Literature citations

Structure and multiplicity of genes for the human immunoglobulin heavy chain variable region.
Matthyssens G.; Rabbitts T.H.;
Proc. Natl. Acad. Sci. U.S.A. 77:6561-6565(1980)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (IMGT ALLELE IGHV3-23*02); VARIANTS LEU-24 AND GLY-80; Variable region sequences of five human immunoglobulin heavy chains of the VH3 subgroup: definitive identification of four heavy chain hypervariable regions.
Capra J.D.; Kehoe J.M.;
Proc. Natl. Acad. Sci. U.S.A. 71:845-848(1974)
Cited for: PROTEIN SEQUENCE OF 20-117; VARIANT LEU-24; Structure of antibodies with shared idiotypy: the complete sequence of the heavy chain variable regions of two immunoglobulin M anti-gamma globulins.
Capra J.D.; Kehoe J.M.;
Proc. Natl. Acad. Sci. U.S.A. 71:4032-4036(1974)
Cited for: PROTEIN SEQUENCE OF 20-117; VARIANT LEU-24; Immunoglobulin structure and genetics. Identity between variable regions of a mu and a gamma2 chain.
Wang A.-C.; Wang I.Y.; Fudenberg H.H.;
J. Biol. Chem. 252:7192-7199(1977)
Cited for: PROTEIN SEQUENCE OF 20-117; VARIANT LEU-24;