Sequence information
Variant position: 306 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:
ETEHTEQKRNVIRIIPHHNY
N AAINKYNHDIALLELDEPLV
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 ETEHTEQKRNVIRIIPHHNYN AAINKYNHDIALLELDEPLV
KREHTEQKRNVIRTILHHSYN ATINKYNHDIALLELDEPLT
Chimpanzee ETEHTEQKRNVIRIIPHHNYN AAINKYNHDIALLELDEPLV
Mouse KKEDTEQRRNVIRTIPHHQYN ATINKYSHDIALLELDKPLI
Rat EKEDTEQRRNVIRTIPHHQYN ATINKYSHDIALLELDKPLI
Bovine KPEPTEQKRNVIRAIPYHSYN ASINKYSHDIALLELDEPLE
Cat ETEHTEQKRNVIRTILHHSYN ASVNKYSHDIALLELDEPLT
Chicken EDDHTEQRRQVVKILPYPTYN RTRNKHHNDIALLELDQPLT
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
315 – 315
Charge relay system
Metal binding
286 – 286
Calcium 8; via carbonyl oxygen
Metal binding
288 – 288
Calcium 8
Metal binding
291 – 291
Calcium 8
Disulfide bond
178 – 335
Interchain (between light and heavy chains)
Mutagenesis
305 – 305
Y -> F. Strongly increases enzyme activity with a synthetic peptide substrate; when associated with T-311; A-365 and T-391.
Mutagenesis
311 – 311
K -> T. Strongly increases enzyme activity with a synthetic peptide substrate; when associated with F-305; A-365 and T-391.
Mutagenesis
312 – 312
Y -> A. Strongly decreases enzyme activity with a synthetic peptide substrate.
Turn
303 – 306
Literature citations
Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.
Koeberl D.D.; Bottema C.D.; Buerstedde J.-M.; Sommer S.S.;
Am. J. Hum. Genet. 45:448-457(1989)
Cited for: VARIANTS HEMB GLN-75; ASP-79; TRP-268; THR-279; SER-306; MET-342; ARG-357 AND ARG-453; VARIANT PHE-7;
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.