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:
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 RSALVLQYLRVPLVDRATCL RSTKFTIYNNMFCAGFHEGGR
Chimpanzee RSALVLQYLRVPLVDRATCL RSTKFTIYNNMFCAGFHEGGR
Mouse RQASILQYLRVPLVDRATCL RSTTFTIYNNMFCAGYREGGK
Rat RQASILQYLRVPLVDRATCL RSTKFSIYNNMFCAGYREGGK
Bovine RSASILQYLKVPLVDRATCL RSTKFSIYSHMFCAGYHEGGK
Cat RPATILQYLKVPLVDRATCL RSTKFTIYNNMFCAGFHEGGK
Chicken RSAIVLQVLTVPFVDRVTCL KSTSTTILHSMFCAGYTAGGK
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
47 – 461 Coagulation factor IX
227 – 461 Coagulation factor IXa heavy chain
227 – 459 Peptidase S1
382 – 396
391 – 391 Y -> T. Strongly increases enzyme activity with a synthetic peptide substrate; when associated with F-305; T-311 and A-365.
379 – 384
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;
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.