Variant position: 401 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 453 The length of the canonical sequence.
Location on the sequence:
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 SKAST-PNGYDNGIIWATWKT RWYSMKKTTMKIIPFNRLTIG
Mouse SKSST-TNGFDDGIIWATWKS RWYSMKETTMKIIPFNRLSI
Rat SKSST-PNGYDNGIIWATWKT RWYSMKETTMKIIPFNRLSI
Bovine SKTST-PNGYDNGIIWATWKS RWYSMKKTTMKIIPLNRLAI
Xenopus laevis SEADSGPSGYDNGIIWATWRR RWYSMKSVTMKIMPLNRY--
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
27 – 453 Fibrinogen gamma chain
170 – 416 Fibrinogen C-terminal
400 – 422 Gamma-chain polymerization, binding amino end of another fibrin alpha chain
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;
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.