UniProtKB/Swiss-Prot P00740: Variant p.Thr194Ala

Coagulation factor IX
Gene: F9
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Variant information Variant position:

194 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Threonine (T) to Alanine (A) at position 194 (T194A, p.Thr194Ala). 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 medium size and polar (T) to small size and hydrophobic (A) 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
Other resources:

Links to websites of interest for the variant.

Variant rs6048 [ dbSNP | Ensembl ]

Sequence information Variant position:

194 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:

VPFPCGRVSVSQTSKLTRAE T VFPDVDYVNSTEAETILDNI 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                         VPFPCGRVSVSQTS-KLTRAETVFPDVDYVNST---------EAETILDNI

                              VPFPCGRVSVPHISMTRTRAETLFSNMDYENST--------

Chimpanzee                    VPFPCGRVSVSQTS-KLTRAETVFPDVDYVNST--------

Mouse                         VPFPCGRASISYSSKKITRAETVFSNMDYENSTEAVFIQDD

Rat                           VPFPCGRVSVAYNSKKITRAETVFSNTDYGNSTE--LILDD

Bovine                        VPFPCGRVSVSHISKKLTRAETIFSNTNYENSS--------

Cat                           VPFPCGRVSVPHISTTHTRAETLFLNMDYENSTT--DYENS

Chicken                       VPYPCGRITAPEMRGKVTRTENTIERWNITAHDEGDAHDEA

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
Chain	47 – 461	Coagulation factor IX
Propeptide	192 – 226	Activation peptide
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
Glycosylation	213 – 213	N-linked (GlcNAc...) asparagine
Disulfide bond	178 – 335	Interchain (between light and heavy chains)

Literature citations
The gene structure of human anti-haemophilic factor IX.
Anson D.S.; Choo K.H.; Rees D.J.G.; Giannelli F.; Gould K.G.; Huddleston J.A.; Brownlee G.G.;
EMBO J. 3:1053-1060(1984)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ALA-194; Nucleotide sequence of the gene for human factor IX (antihemophilic factor B).
Yoshitake S.; Schach B.G.; Foster D.C.; Davie E.W.; Kurachi K.;
Biochemistry 24:3736-3750(1985)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ALA-194; Evidence for a prevalent dimorphism in the activation peptide of human coagulation factor IX.
McGraw R.A.; Davis L.M.; Noyes C.M.; Lundblad R.L.; Roberts H.R.; Graham J.B.; Stafford D.W.;
Proc. Natl. Acad. Sci. U.S.A. 82:2847-2851(1985)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ALA-194; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; PARTIAL PROTEIN SEQUENCE; Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANT ALA-194; Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B.
Saini S.; Hamasaki-Katagiri N.; Pandey G.S.; Yanover C.; Guelcher C.; Simhadri V.L.; Dandekar S.; Guerrera M.F.; Kimchi-Sarfaty C.; Sauna Z.E.;
Haemophilia 21:210-218(2015)
Cited for: VARIANTS HEMB ALA-194 AND HIS-241;

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.