UniProtKB/Swiss-Prot P01601: Variant p.Ser48Arg

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 48 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 Serine (S) to Arginine (R) at position 48 (S48R, p.Ser48Arg). 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 large size and basic (R) 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 IGKV1D-16*01. Additional information on the polymorphism described.
Variant description: In IMGT allele IGKV1D-16*02. Any additional useful information about the variant.

Sequence information

Variant position: 48 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: QSPSSLSASVGDRVTITCRA S QGISSWLAWYQQKPEKAPKS 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	23 – 117	Immunoglobulin kappa variable 1D-16
Domain	24 – 117	Ig-like
Region	46 – 56	Complementarity-determining-1
Disulfide bond	45 – 110

Literature citations

Human immunoglobulin variable region genes -- DNA sequences of two V kappa genes and a pseudogene.
Bentley D.L.; Rabbitts T.H.;
Nature 288:730-733(1980)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (IMGT ALLELE IGKV1D-16*02); VARIANT ARG-48; Evolution of immunoglobulin V genes: evidence indicating that recently duplicated human V kappa sequences have diverged by gene conversion.
Bentley D.L.; Rabbitts T.H.;
Cell 32:181-189(1983)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (IMGT ALLELE IGKV1D-16*02); VARIANT ARG-48;