Variant position: 139 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 466 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 GSCKDQLQSYICFCLPAFEG RNCETHKDDQLICVNENGGCE
Chimpanzee GSCKDQLQSYICFCLPAFEG RNCETYKDDQLICVNENGGCE
Mouse GTCQDHLKSYVCFCLLDFEG RNCEKSKNEQLICANENGDCD
Rat GTCQDHLKSYVCFCPLDFEG RNCEKNKNEQLICANENGDCD
Bovine GSCEDQLRSYICFCPDGFEG RNCETDKQSQLICANDNGGCE
Rabbit GSCEDQIQSYICFCLADFEG RNCEKNKNDQLICMYENGGCE
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
61 – 212 Factor VII light chain
106 – 142 EGF-like 1; calcium-binding
123 – 123 (3R)-3-hydroxyaspartate
120 – 120 O-linked (Fuc)
132 – 141
Severe factor VII deficiency caused by mutations abolishing the cleavage site for activation and altering binding to tissue factor.
Chaing S.; Clarke B.; Sridhara S.; Chu K.; Friedman P.; Vandusen W.; Roberts H.R.; Blajchman M.; Monroe D.M.; High K.A.;
Cited for: VARIANTS FA7D GLN-139 AND GLN-212;
Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.
Herrmann F.H.; Wulff K.; Auerswald G.; Schulman S.; Astermark J.; Batorova A.; Kreuz W.; Pollmann H.; Ruiz-Saez A.; De Bosch N.; Salazar-Sanchez L.;
Cited for: VARIANTS FA7D LEU-64; GLN-73; PHE-82; PHE-84 DEL; GLY-88; PRO-88; PRO-120; CYS-128; ASP-138; GLN-139; LYS-154; SER-156; SER-157; ARG-160; PHE-171; PRO-181; ASN-183; PHE-186; SER-189; LEU-194; THR-194; ARG-195; GLN-212; ASP-216; ASN-241; THR-251; ARG-254; TYR-254; PRO-264; THR-266; ASN-272; ASN-277; TRP-283; ILE-298; GLN-301; ASN-302; HIS-302; THR-304; VAL-304; CYS-307; HIS-307; MET-312; PHE-321; LYS-325; GLN-326; CYS-337; PHE-341; SER-343; SER-345; CYS-350; VAL-354; ILE-358; PRO-360; ARG-363; HIS-363; GLN-364; TRP-364; PHE-370; TRP-375; MET-384; THR-387; VAL-387; SER-388; CYS-391; SER-391; GLU-401; HIS-403; ASN-404; GLY-413; MET-419; PHE-422; ALA-425; CYS-425; THR-429; ASP-432; GLU-435 AND PHE-437;
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