Variant position: 1730 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2224 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 WHATERSGPESPGSACRAWA YYSAVNPEKDIHSGLIGPLLI
Mouse WHATKRSGPENPGSACRAWA YYSAVNVERDIHSGLIGPLLI
Pig WHATERSGPESPGSACRAWA YYSAVNPEKDIHSGLIGPLLI
Bovine WHATTRSGPENPGSACRAWA YYSAVNPEKDIHSGLIGPLLI
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.
Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase complex in a thrombophilic family.
Castoldi E.; Simioni P.; Kalafatis M.; Lunghi B.; Tormene D.; Girelli D.; Girolami A.; Bernardi F.;
Cited for: VARIANT FA5D CYS-1730; VARIANT LEIDEN GLN-534; VARIANT ARG-1327;
Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency.
van Wijk R.; Nieuwenhuis K.; van den Berg M.; Huizinga E.G.; van der Meijden B.B.; Kraaijenhagen R.J.; van Solinge W.W.;
Cited for: VARIANTS THPH2 ARG-613 AND CYS-1730;
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