UniProtKB/Swiss-Prot P01859: Variant p.Ser257Ala

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 257 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 Alanine (A) at position 257 (S257A, p.Ser257Ala). 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 small size and hydrophobic (A) 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 IGHG2*06. Additional information on the polymorphism described.
Variant description: In IMGT allele IGHG2*01. Any additional useful information about the variant.

Sequence information

Variant position: 257 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 395 The length of the canonical sequence.
Location on the sequence: MTKNQVSLTCLVKGFYPSDI S VEWESNGQPENNYKTTPPML 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	1 – 395	Immunoglobulin heavy constant gamma 2
Topological domain	1 – 346	Extracellular
Domain	225 – 321	Ig-like 3
Region	220 – 326	CH3
Disulfide bond	246 – 304
Beta strand	257 – 262

Literature citations

Linkage and sequence homology of two human immunoglobulin gamma heavy chain constant region genes.
Ellison J.W.; Hood L.E.;
Proc. Natl. Acad. Sci. U.S.A. 79:1984-1988(1982)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (IMGT ALLELE IGHG2*01) (ISOFORM 1); VARIANT ALA-257;