Variant position: 191 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 EPAVPFPCGRVSVSQTS-KLT RAETVFPDVDYVNST---------EAETIL
Chimpanzee EPAVPFPCGRVSVSQTS-KLT RAETVFPDVDYVNST-----
Mouse EPTVPFPCGRASISYSSKKIT RAETVFSNMDYENSTEAVFI
Rat EPAVPFPCGRVSVAYNSKKIT RAETVFSNTDYGNSTE--LI
Bovine EPAVPFPCGRVSVSHISKKLT RAETIFSNTNYENSS-----
Cat EPAVPFPCGRVSVPHISTTHT RAETLFLNMDYENSTT--DY
Chicken KPAVPYPCGRITAPEMRGKVT RTENTIERWNITAHD-----
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
47 – 461 Coagulation factor IX
47 – 191 Coagulation factor IXa light chain
191 – 192 Cleavage; by factor XIa
201 – 201 Sulfotyrosine
204 – 204 Phosphoserine
205 – 205 Phosphothreonine; alternate
203 – 203 N-linked (GlcNAc...) asparagine
205 – 205 O-linked (GalNAc...) threonine; alternate
178 – 335 Interchain (between light and heavy chains)
Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145.
Noyes C.M.; Griffith M.J.; Roberts H.R.; Lundblad R.L.;
Proc. Natl. Acad. Sci. U.S.A. 80:4200-4202(1983)
Cited for: VARIANT HEMB HIS-191;
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.