Sequence information
Variant position: 384 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 461 The length of the canonical sequence.
Location on the sequence:
RSALVLQYLRVPLVDRATCL
R STKFTIYNNMFCAGFHEGGR
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 RSALVLQYLRVPLVDRATCLR STKFTIYNNMFCAGFHEGGR
RSASILQYLKVPLVDRATCLR STKFTIYNNMFCAGFHEGGK
Chimpanzee RSALVLQYLRVPLVDRATCLR STKFTIYNNMFCAGFHEGGR
Mouse RQASILQYLRVPLVDRATCLR STTFTIYNNMFCAGYREGGK
Rat RQASILQYLRVPLVDRATCLR STKFSIYNNMFCAGYREGGK
Bovine RSASILQYLKVPLVDRATCLR STKFSIYSHMFCAGYHEGGK
Cat RPATILQYLKVPLVDRATCLR STKFTIYNNMFCAGFHEGGK
Chicken RSAIVLQVLTVPFVDRVTCLK STSTTILHSMFCAGYTAGGK
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
Chain
47 – 461
Coagulation factor IX
Chain
227 – 461
Coagulation factor IXa heavy chain
Domain
227 – 459
Peptidase S1
Disulfide bond
382 – 396
Mutagenesis
391 – 391
Y -> T. Strongly increases enzyme activity with a synthetic peptide substrate; when associated with F-305; T-311 and A-365.
Helix
379 – 384
Literature citations
X-linked thrombophilia with a mutant factor IX (factor IX Padua).
Simioni P.; Tormene D.; Tognin G.; Gavasso S.; Bulato C.; Iacobelli N.P.; Finn J.D.; Spiezia L.; Radu C.; Arruda V.R.;
N. Engl. J. Med. 361:1671-1675(2009)
Cited for: VARIANT THPH8 LEU-384; CHARACTERIZATION OF VARIANT THPH8 LEU-384; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY;
Disclaimer:
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.