Variant position: 55 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 866 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 RGPRVVER-HQSACK-DSDWPF CSDEDWNYKCPSGCRMKGLID
Mouse RGPRVVER-HQSQCK-DSDWPF CSDDDWNHKCPSGCRMKGL
Rat RGPRIVER-QPSQCK-ETDWPF CSDEDWNHKCPSGCRMKGL
Bovine RGPRLVER-QQSACK-ETGWPF CSDEDWNTKCPSGCRMKGL
Chicken RGPRILENMHESSCKYEKNWPI CVDDDWGTKCPSCCRMQGI
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
36 – 866 Fibrinogen alpha chain
45 – 45 Phosphoserine; by FAM20C
50 – 50 Phosphoserine
56 – 56 Phosphoserine; by FAM20C
47 – 47 Interchain
55 – 55 Interchain (with C-95 in beta chain)
64 – 64 Interchain (with C-49 in gamma chain)
68 – 68 Interchain (with C-106 in beta 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 ARG-55; PRO-129 AND TRP-184; CHARACTERIZATION OF VARIANTS CAFBN ARG-55; PRO-129 AND TRP-184;
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.