Variant position: 296 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 TVVAGEHNIEETEHTEQKRN VIRIIPHHNYNAAINKYNHDI
Chimpanzee TVVAGEHNIEETEHTEQKRN VIRIIPHHNYNAAINKYNHDI
Mouse EVVAGEYNIDKKEDTEQRRN VIRTIPHHQYNATINKYSHDI
Rat EVVAGEHNIDEKEDTEQRRN VIRTIPHHQYNATINKYSHDI
Bovine TVVAGEHNTEKPEPTEQKRN VIRAIPYHSYNASINKYSHDI
Cat TVVAGEHNTEETEHTEQKRN VIRTILHHSYNASVNKYSHDI
Chicken TAVAGEYNTKEDDHTEQRRQ VVKILPYPTYNRTRNKHHNDI
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
315 – 315 Charge relay system
281 – 281 Calcium 8
283 – 283 Calcium 8; via carbonyl oxygen
286 – 286 Calcium 8; via carbonyl oxygen
288 – 288 Calcium 8
291 – 291 Calcium 8
178 – 335 Interchain (between light and heavy chains)
305 – 305 Y -> F. Strongly increases enzyme activity with a synthetic peptide substrate; when associated with T-311; A-365 and T-391.
311 – 311 K -> T. Strongly increases enzyme activity with a synthetic peptide substrate; when associated with F-305; A-365 and T-391.
312 – 312 Y -> A. Strongly decreases enzyme activity with a synthetic peptide substrate.
292 – 301
Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations.
Guo Z.P.; Yang L.H.; Qin X.Y.; Liu X.E.; Chen J.F.; Zhang Y.F.;
Cited for: VARIANTS HEMB SER-20; TYR-28; SER-46; ASP-54; GLU-58; ARG-84; HIS-138; GLN-226; ILE-284 DEL; MET-296; LYS-328; TYR-328; THR-414 AND TYR-THR-LYS-VAL-447 INS; CHARACTERIZATION OF VARIANTS HEMB SER-20; TYR-28; SER-46; ASP-54; GLU-58; ARG-84; HIS-138; GLN-226; ILE-284 DEL; MET-296; LYS-328; TYR-328; THR-414 AND TYR-THR-LYS-VAL-447 INS;
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.