Variant position: 279 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 EKWIVTAAHCVETGVKITVV AGEHNIEETEHTEQKRNVIRI
Chimpanzee EKWIVTAAHCVDTGVKITVV AGEHNIEETEHTEQKRNVIRI
Mouse EKWIVTAAHCLKPGDKIEVV AGEYNIDKKEDTEQRRNVIRT
Rat EKWIVTAAHCLKPGDKIEVV AGEHNIDEKEDTEQRRNVIRT
Bovine EKWVVTAAHCIKPGVKITVV AGEHNTEKPEPTEQKRNVIRA
Cat EKWVVTAAHCINPDVEITVV AGEHNTEETEHTEQKRNVIRT
Chicken EKWVVTAAHCLEPGDNVTAV AGEYNTKEDDHTEQRRQVVKI
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.
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;
Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications.
Aguilar-Martinez P.; Romey M.-C.; Schved J.-F.; Gris J.-C.; Demaille J.; Claustres M.;
Hum. Genet. 94:287-290(1994)
Cited for: VARIANTS HEMB HIS-191; GLY-226; THR-279; GLN-379; GLU-419 AND GLN-449;
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.