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UniProtKB/Swiss-Prot P00740: Variant p.Arg191His

Coagulation factor IX
Gene: F9
Variant information

Variant position:  191
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Arginine (R) to Histidine (H) at position 191 (R191H, p.Arg191His).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (R) to medium size and polar (H)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In HEMB; moderate; Chapel-Hill, Chicago-2.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

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.

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.









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.

Chain 47 – 461 Coagulation factor IX
Chain 47 – 191 Coagulation factor IXa light chain
Site 191 – 192 Cleavage; by factor XIa
Modified residue 201 – 201 Sulfotyrosine
Modified residue 204 – 204 Phosphoserine
Modified residue 205 – 205 Phosphothreonine; alternate
Glycosylation 203 – 203 N-linked (GlcNAc...) asparagine
Glycosylation 205 – 205 O-linked (GalNAc...) threonine; alternate
Disulfide bond 178 – 335 Interchain (between light and heavy chains)

Literature citations

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;

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.