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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00740: Variant p.Gln96Pro

Coagulation factor IX
Gene: F9
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Variant information Variant position: help 96 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Glutamine (Q) to Proline (P) at position 96 (Q96P, p.Gln96Pro). 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: help Change from medium size and polar (Q) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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: help In HEMB; severe; New London. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 96 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 461 The length of the canonical sequence.
Location on the sequence: help EVFENTERTTEFWKQYVDGD Q CESNPCLNGGSCKDDINSYE 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         EVFENTERTTEFWKQYVDGDQCESNPCLNGGSCKDDINSYE

                              EVFENTEKTTEFWKQYVDGDQCESNPCLNDGVCKDDINSYE

Chimpanzee                    EVFENTERTTEFWKQYVDGDQCESNPCLNGGSCKDDINSYE

Mouse                         EVFENTEKTTEFWKQYVDGDQCESNPCLNGGICKDDISSYE

Rat                           EVFENTEKTTEFWKQYVDGDQCESNPCLNGGICKDDINSYE

Bovine                        EVFENTEKTTEFWKQYVDGDQCESNPCLNGGMCKDDINSYE

Cat                           EVFENTEKTTEFWKQYVDGDQCESNPCLNGGICKDDINSYE

Chicken                       EVFENTEKTMEFWKIYIDGDQCNSNPCKNGAVCKDGVSSYE
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 47 – 461 Coagulation factor IX
Chain 47 – 191 Coagulation factor IXa light chain
Domain 93 – 129 EGF-like 1; calcium-binding
Binding site 76 – 76 via 4-carboxyglutamate
Binding site 76 – 76 via 4-carboxyglutamate
Binding site 76 – 76 via 4-carboxyglutamate
Binding site 82 – 82 via 4-carboxyglutamate
Binding site 82 – 82 via 4-carboxyglutamate
Binding site 86 – 86 via 4-carboxyglutamate
Binding site 86 – 86 via 4-carboxyglutamate
Binding site 93 – 93
Binding site 94 – 94
Binding site 96 – 96
Binding site 110 – 110
Binding site 111 – 111
Modified residue 76 – 76 4-carboxyglutamate
Modified residue 79 – 79 4-carboxyglutamate
Modified residue 82 – 82 4-carboxyglutamate
Modified residue 86 – 86 4-carboxyglutamate
Modified residue 110 – 110 (3R)-3-hydroxyaspartate
Modified residue 114 – 114 Phosphoserine
Glycosylation 85 – 85 O-linked (GalNAc...) threonine
Glycosylation 99 – 99 O-linked (Glc...) serine
Glycosylation 107 – 107 O-linked (Fuc...) serine
Alternative sequence 93 – 130 Missing. In isoform 2.
Turn 96 – 99



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.