Variant position: 117 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 TKLFWISYSDGDQCASSPCQ NGGSCKDQLQSYICFCLPAFE
Chimpanzee TKLFWISYSDGDQCASSPCQ NGGSCKDQLQSYICFCLPAFE
Mouse TKQFWIVYSDGDQCASNPCQ NGGTCQDHLKSYVCFCLLDFE
Rat TKQFWTIYSDGDQCASNPCQ NGGTCQDHLKSYVCFCPLDFE
Bovine TRQFWVSYNDGDQCASSPCQ NGGSCEDQLRSYICFCPDGFE
Rabbit TKQFWITYNDGDQCASNPCQ NGGSCEDQIQSYICFCLADFE
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
113 – 113 Important for S-112 for O-xylosylation
123 – 123 (3R)-3-hydroxyaspartate
112 – 112 O-linked (Glc...) serine; alternate
112 – 112 O-linked (Xyl...) serine; alternate
120 – 120 O-linked (Fuc) serine
110 – 121
115 – 130
112 – 112 S -> A. Complete loss of O-glycosylation and O-xylosylation by POGLUT1.
113 – 113 S -> A. No effect on O-glycosylation by POGLUT1. Drastic decrease in O-xylosylation.
116 – 118
Factor VII deficiency caused by a structural variant N57D of the first epidermal growth factor domain.
Leonard B.J.; Chen Q.; Blajchman M.A.; Ofosu F.A.; Sridhara S.; Yang D.; Clarke B.J.;
Cited for: VARIANT FA7D ASP-117; CHARACTERIZATION OF VARIANT FA7D ASP-117;
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.