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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02679: Variant p.Asp327His

Fibrinogen gamma chain
Gene: FGG
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Variant information Variant position: help 327 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 Aspartate (D) to Histidine (H) at position 327 (D327H, p.Asp327His). 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 acidic (D) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In CAFBN; hypofibrinogenemia; heterozygous; no effect on fibrinogen complex assembly; no effect on fibrinogen complex secretion. Any additional useful information about the variant.


Sequence information Variant position: help 327 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 453 The length of the canonical sequence.
Location on the sequence: help FAGGDAGDAFDGFDFGDDPS D KFFTSHNGMQFSTWDNDNDK 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                         FAGGDAGDAFDGFDFGDDPSDKFFTSHNGMQFSTWDNDNDK

Mouse                         FIGGDAGDAFDGYDFGDDPSDKFFTSHNGMQFSTWDNDNDK

Rat                           FIGGDAGDAFDGYDFGDDPSDKFFTSHNGMHFSTWDNDNDK

Bovine                        FIGGDAGDAFDGYDFGDDSSDKFFTSHNGMQFSTWDSDNDK

Xenopus laevis                FIGGDAGDAFDGFDFGDDPSDKFYTSHNGMQFSTFDKDNDK
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 27 – 453 Fibrinogen gamma chain
Domain 170 – 416 Fibrinogen C-terminal
Binding site 344 – 344
Binding site 346 – 346
Glycosylation 334 – 334 N-linked (GlcNAc...) asparagine; in variant Asahi
Helix 327 – 331



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 PRO-303; HIS-327; ASP-345 AND TRP-401; CHARACTERIZATION OF VARIANTS CAFBN PRO-303; HIS-327 AND ASP-345;
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.