Sequence information
Variant position: 410 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:
IYNNMFCAGFHEGGRDSCQG
D SGGPHVTEVEGTSFLTGIIS
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 IYNNMFCAGFHEGGRDSCQGD SGGPHVTEVEGTSFLTGIIS
IYNNMFCAGFHEGGKDSCQGD SGGPHVTEVEGISFLTGIIS
Chimpanzee IYNNMFCAGFHEGGRDSCQGD SGGPHVTEVEGTSFLTGIIS
Mouse IYNNMFCAGYREGGKDSCEGD SGGPHVTEVEGTSFLTGIIS
Rat IYNNMFCAGYREGGKDSCEGD SGGPHVTEVEGTSFLTGIIS
Bovine IYSHMFCAGYHEGGKDSCQGD SGGPHVTEVEGTSFLTGIIS
Cat IYNNMFCAGFHEGGKDSCQGD SGGPHVTEVEGINFLTGIIS
Chicken ILHSMFCAGYTAGGKDTCGGD SGGPYTNSIGETWFLTGVTS
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
Active site
411 – 411
Charge relay system
Disulfide bond
407 – 435
Mutagenesis
391 – 391
Y -> T. Strongly increases enzyme activity with a synthetic peptide substrate; when associated with F-305; T-311 and A-365.
Literature citations
Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX.
Ludwig M.; Sabharwal A.K.; Brackmann H.H.; Olek K.; Smith K.J.; Birktoft J.J.; Bajaj S.P.;
Blood 79:1225-1232(1992)
Cited for: VARIANTS HEMB VAL-291; GLN-294; HIS-410; GLY-411 AND ILE-411;
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.