Sequence information
Variant position: 357 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:
ADKEYTNIFLKFGSGYVSGW
G RVFHKGRSALVLQYLRVPLV
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 ADKEYTNIFLKFGSGYVSGWG RVFHKGRSALVLQYLRVPLV
ADREYSNIFLKFGSGYVSGWG RVFNKGRSASILQYLKVPLV
Chimpanzee ADKEYTNIFLKFGSGYVSGWG RVFHKGRSALVLQYLRVPLV
Mouse ANREYTNIFLKFGSGYVSGWG KVFNKGRQASILQYLRVPLV
Rat ANKEYTNIFLKFGSGYVSGWG KVFNKGRQASILQYLRVPLV
Bovine ADRDYTNIFLKFGYGYVSGWG KVFNRGRSASILQYLKVPLV
Cat ADREYTNTFLKFGYGYVSGWG KVFNKGRPATILQYLKVPLV
Chicken GSRDFTNNLLSNGPGTVSGWG SMLYRGRSAIVLQVLTVPFV
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.
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.