UniProtKB/Swiss-Prot A0A0C4DH32: Variant p.Cys41Phe

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 41 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 Cysteine (C) to Phenylalanine (F) at position 41 (C41F, p.Cys41Phe). 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 medium size and polar (C) to large size and aromatic (F) 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 the functional IMGT allele IGHV3-20*01 that is not represented on the reference genome assembly (GRCh38/hg38). The sequence of the reference genome assembly (GRCh38/hg38) is that of IMGT allele IGHV3-20*02 which is considered as an open reading frame (ORF), but presents a mutation at position 41, corresponding to the first cysteine from the disulfide bridge, potentially leading to uncorrect folding. Additional information on the polymorphism described.
Variant description: In IMGT allele IGHV3-20*02. Any additional useful information about the variant.

Sequence information

Variant position: 41 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: VQLVESGGGVVRPGGSLRLS C AASGFTFDDYGMSWVRQAPG 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 3-20
Domain	20 – 117	Ig-like
Region	20 – 44	Framework-1
Disulfide bond	41 – 115

Literature citations

The DNA sequence and analysis of human chromosome 14.
Heilig R.; Eckenberg R.; Petit J.-L.; Fonknechten N.; Da Silva C.; Cattolico L.; Levy M.; Barbe V.; De Berardinis V.; Ureta-Vidal A.; Pelletier E.; Vico V.; Anthouard V.; Rowen L.; Madan A.; Qin S.; Sun H.; Du H.; Pepin K.; Artiguenave F.; Robert C.; Cruaud C.; Bruels T.; Jaillon O.; Friedlander L.; Samson G.; Brottier P.; Cure S.; Segurens B.; Aniere F.; Samain S.; Crespeau H.; Abbasi N.; Aiach N.; Boscus D.; Dickhoff R.; Dors M.; Dubois I.; Friedman C.; Gouyvenoux M.; James R.; Madan A.; Mairey-Estrada B.; Mangenot S.; Martins N.; Menard M.; Oztas S.; Ratcliffe A.; Shaffer T.; Trask B.; Vacherie B.; Bellemere C.; Belser C.; Besnard-Gonnet M.; Bartol-Mavel D.; Boutard M.; Briez-Silla S.; Combette S.; Dufosse-Laurent V.; Ferron C.; Lechaplais C.; Louesse C.; Muselet D.; Magdelenat G.; Pateau E.; Petit E.; Sirvain-Trukniewicz P.; Trybou A.; Vega-Czarny N.; Bataille E.; Bluet E.; Bordelais I.; Dubois M.; Dumont C.; Guerin T.; Haffray S.; Hammadi R.; Muanga J.; Pellouin V.; Robert D.; Wunderle E.; Gauguet G.; Roy A.; Sainte-Marthe L.; Verdier J.; Verdier-Discala C.; Hillier L.W.; Fulton L.; McPherson J.; Matsuda F.; Wilson R.; Scarpelli C.; Gyapay G.; Wincker P.; Saurin W.; Quetier F.; Waterston R.; Hood L.; Weissenbach J.;
Nature 421:601-607(2003)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (IMGT ALLELE IGHV3-20*02); VARIANT PHE-41;