Variant position: 394 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 758 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 QLFLPYSHFLTQGYNNWTNG LYGYSWDMMVHSRSHQHVKIT
Mouse QLFLPYSHFLTQGYNNWTNG LYGYSWDMMVHSRSHQHVKIT
Rat QLFLPYSHFLTQGYNNWTNG LYGYSWDMMVHSRSHQHVKIT
Bovine QLFLPYSHFLTQGYNNWTNG LYGYSWDMMVHSRSHQHVKIT
Sheep QLFLPYSHFLTQGYNNWTNG LYGYSWDMMVHSRSHQHVKIT
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
2 – 758 Vitamin K-dependent gamma-carboxylase
383 – 758 Lumenal
99 – 450
381 – 381 H -> A. No effect on activity.
A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors.
Brenner B.; Sanchez-Vega B.; Wu S.M.; Lanir N.; Stafford D.W.; Solera J.;
Cited for: VARIANT VKCFD1 ARG-394;
Expression and characterization of the naturally occurring mutation L394R in human gamma-glutamyl carboxylase.
Mutucumarana V.P.; Stafford D.W.; Stanley T.B.; Jin D.-Y.; Solera J.; Brenner B.; Azerad R.; Wu S.-M.;
J. Biol. Chem. 275:32572-32577(2000)
Cited for: CHARACTERIZATION OF VARIANT VKCFD1 ARG-394;
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