UniProtKB/Swiss-Prot P01857: Variant p.Lys97Arg

Immunoglobulin heavy constant gamma 1
Gene: IGHG1
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Variant information Variant position:

97 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 Lysine (K) to Arginine (R) at position 97 (K97R, p.Lys97Arg). 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 large size and basic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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 IGHG1*05. Additional information on the polymorphism described.
Variant description:

In IMGT allele IGHG1*03. Any additional useful information about the variant.

Sequence information Variant position:

97 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

399 The length of the canonical sequence.
Location on the sequence:

GTQTYICNVNHKPSNTKVDK K VEPKSCDKTHTCPPCPAPEL 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:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         GTQTYICNVNHKPSNTKVDKKVEPKSCDKTHTCPP--CPAPEL

Mouse                         PSETVTCNVAHPASSTKVDKKIVPRDCG----CKPCICTVP

Rat                           PSQTVTCNVAHPASSTKVDKKIVPRNCGG--DCKPCICTGS

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 – 399	Immunoglobulin heavy constant gamma 1
Topological domain	1 – 350	Extracellular
Domain	6 – 99	Ig-like 1
Region	1 – 98	CH1
Disulfide bond	103 – 103	Interchain (with light chain)
Disulfide bond	109 – 109	Interchain (with heavy chain)
Disulfide bond	112 – 112	Interchain (with heavy chain)
Mutagenesis	117 – 117	L -> A. Reduces the affinity for FCGR1A about 5-fold. Abolishes binding to FCGR2A and FCGR3A. Impairs ADCC of virus-infected cells by monocytes. Impairs binding to complement component C1q. Impairs complement-dependent cytotoxicity.
Beta strand	92 – 97

Literature citations
Three-dimensional structure determination of antibodies. Primary structure of crystallized monoclonal immunoglobulin IgG1 KOL, I.
Schmidt W.E.; Jung H.-D.; Palm W.; Hilschmann N.;
Hoppe-Seyler's Z. Physiol. Chem. 364:713-747(1983)
Cited for: PROTEIN SEQUENCE (IMGT ALLELE IGHG1*03); DISULFIDE BONDS; VARIANTS ARG-97; GLU-239 AND MET-241; The covalent structure of a human gamma G-immunoglobulin. VII. Amino acid sequence of heavy-chain cyanogen bromide fragments H1-H4.
Cunningham B.A.; Rutishauser U.; Gall W.E.; Gottlieb P.D.; Waxdal M.J.; Edelman G.M.;
Biochemistry 9:3161-3170(1970)
Cited for: PROTEIN SEQUENCE OF 1-135 (IMGT ALLELE IGHG1*03); VARIANT ARG-97;

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.