Variant position: 387 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 IPANMDKKYRSQHLDNFSNQ IGKHYKKVMYTQYEDESFTKH
Mouse IPANMDKIYRSQHLDNFSNQ IGKHYKKVIYRQYEEETFTKR
Pig IPANMDKKYRSLHLDNFSNQ IGKHYKKVVYKQYQDESFTKR
Bovine IPANMDKKYRSLHLDNFSNR IGKHYKKVVYKQYQDDSFTKR
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
29 – 2224 Coagulation factor V
29 – 737 Coagulation factor V heavy chain
348 – 684 F5/8 type A 2
348 – 526 Plastocyanin-like 3
382 – 382 N-linked (GlcNAc...)
Factor V I359T: a novel mutation associated with thrombosis and resistance to activated protein C.
Mumford A.D.; McVey J.H.; Morse C.V.; Gomez K.; Steen M.; Norstrom E.A.; Tuddenham E.G.D.; Dahlback B.; Bolton-Maggs P.H.B.;
Br. J. Haematol. 123:496-501(2003)
Cited for: VARIANT THPH2 THR-387;
Functional characterization of factor V-Ile359Thr: a novel mutation associated with thrombosis.
Steen M.; Norstroem E.A.; Tholander A.-L.; Bolton-Maggs P.H.B.; Mumford A.; McVey J.H.; Tuddenham E.G.D.; Dahlbaeck B.;
Cited for: CHARACTERIZATION OF VARIANT THPH2 THR-387;
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