Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02671: Variant p.Cys184Trp

Fibrinogen alpha chain
Gene: FGA
Feedback?
Variant information Variant position: help 184 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Cysteine (C) to Tryptophan (W) at position 184 (C184W, p.Cys184Trp). 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: help Change from medium size and polar (C) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In CAFBN; hypofibrinogenemia; heterozygous; impaired fibrinogen complex assembly. Any additional useful information about the variant.


Sequence information Variant position: help 184 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 866 The length of the canonical sequence.
Location on the sequence: help VDMKRLEVDIDIKIRSCRGS C SRALAREVDLKDYEDQQKQL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         VDMKRLEVDIDIKIRSCRGSCSRALAREVDLKDYEDQQKQL

Mouse                         IDMKRLEVDIDIKIRSCKGSCSRAVNREINLQDYEGHQKQL

Rat                           IDMKRLEVDIDIKIRSCKGSCSRSVSREINLKDYEGQQKQL

Bovine                        VDMKRLEVDIDIKIRSCKGSCSRALEHKVDLEDYKNQQKQL

Chicken                       VEMKRLEVDIDIKIRACKGSCARSFDYQVDKEGYDNIQKHL
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 36 – 866 Fibrinogen alpha chain
Coiled coil 68 – 631
Disulfide bond 180 – 180 Interchain (with C-165 in gamma chain)
Disulfide bond 184 – 184 Interchain (with C-223 in beta chain)
Beta strand 184 – 186



Literature citations
Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency.
Asselta R.; Plate M.; Robusto M.; Borhany M.; Guella I.; Solda G.; Afrasiabi A.; Menegatti M.; Shamsi T.; Peyvandi F.; Duga S.;
Thromb. Haemost. 113:567-576(2015)
Cited for: INVOLVEMENT IN CAFBN; VARIANTS CAFBN ARG-55; PRO-129 AND TRP-184; CHARACTERIZATION OF VARIANTS CAFBN ARG-55; PRO-129 AND TRP-184;
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.