Sequence information
Variant position: 227 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:
AETILDNITQSTQSFNDFTR
V VGGEDAKPGQFPWQVVLNGK
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 AETILDNITQSTQS-------------FNDFTRV VGGEDAKPGQFPWQV-VLNGK
VEKILDNVTQP----------------LNDFTRV VGGKDAK
Chimpanzee AETILDNITQSTQS-------------FNDFTRV VGGEDAK
Mouse DGAILNNVTESSES-------------LNDFTRV VGGENAK
Rat NSTILDNLTENSEP-------------INDFTRV VGGENAK
Bovine AEIIWDNVTQSNQS-------------FDEFSRV VGGEDAE
Cat AEKNVDNVTQP----------------LNDLTRI VGGKTAK
Chicken DEAL--DITEPPPPPTTSAAPAKIVPITKNDTRV VGGYDSV
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
Site
226 – 227
Cleavage; by factor XIa
Glycosylation
213 – 213
N-linked (GlcNAc...) asparagine
Glycosylation
215 – 215
O-linked (GalNAc...) threonine
Glycosylation
225 – 225
O-linked (GalNAc...) threonine
Disulfide bond
178 – 335
Interchain (between light and heavy chains)
Literature citations
Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX.
Bertina R.M.; van der Linden I.K.; Mannucci P.M.; Reinalda-Poot H.H.; Cupers R.; Poort S.R.; Reitsma P.H.;
J. Biol. Chem. 265:10876-10883(1990)
Cited for: VARIANTS HEMB GLN-226; TRP-226; PHE-227 AND THR-414;
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.