UniProtKB/Swiss-Prot P00451 : Variant p.Arg22Thr
Coagulation factor VIII
Gene: F8
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Variant information
Variant position:
22
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
LP/P [Disclaimer : Variants classification is intended for research purposes only, not for clinical and diagnostic use . The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant. ]
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 Threonine (T) at position 22 (R22T, p.Arg22Thr).
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 (T)
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
-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:
In HEMA; severe.
Any additional useful information about the variant.
Sequence information
Variant position:
22
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
2351
The length of the canonical sequence.
Location on the sequence:
QIELSTCFFLCLLRFCFSAT
R RYYLGAVELSWDYMQSDLGE
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 QIELSTCFFLCLLRFCFSATR RYYLGAVELSWDYMQSDL-GE
QVELYTCCFLCLLPFSLSATR KYYLGAVELSWDYMQSDLLS
Mouse QIALFACFFLSLFNFCSSAIR RYYLGAVELSWNYIQSDLLS
Pig QLELSTCVFLCLLPLGFSAIR RYYLGAVELSWDYRQSELLR
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
20 – 2351
Coagulation factor VIII
Chain
20 – 1332
Factor VIIIa heavy chain, 200 kDa isoform
Chain
20 – 759
Factor VIIIa heavy chain, 92 kDa isoform
Domain
20 – 348
F5/8 type A 1
Domain
20 – 198
Plastocyanin-like 1
Alternative sequence
9 – 2143
Missing. In isoform 2.
Beta strand
21 – 33
Literature citations
Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients.
Arruda V.R.; Pieneman W.C.; Reitsma P.H.; Deutz-Terlouw P.P.; Annichino-Bizzacchi J.M.; Brieet E.; Costa F.F.;
Blood 86:3015-3020(1995)
Cited for: VARIANTS HEMA ARG-113; ASN-202; LEU-275; GLY-285; CYS-301; ASP-637; PHE-1808; PRO-1867; GLN-1960; HIS-2169; CYS-2178 AND THR-2281; VARIANT VAL-2257;
Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC).
Tavassoli K.; Eigel A.; Dworniczak B.; Valtseva E.; Horst J.;
Hum. Mutat. Suppl. 1:S260-S262(1998)
Cited for: VARIANTS HEMA GLY-550; THR-723; GLY-1894; SER-2107 AND THR-2204;
The identification and classification of 41 novel mutations in the factor VIII gene (F8C).
Cutler J.A.; Mitchell M.J.; Smith M.P.; Savidge G.F.;
Hum. Mutat. 19:274-278(2002)
Cited for: VARIANTS HEMA THR-22; CYS-25; PRO-26; VAL-111; ARG-138; GLY-186; LYS-284; VAL-327; CYS-365; SER-431; PRO-437; CYS-455; HIS-579; HIS-584; PHE-650; ILE-681; GLN-725; VAL-1727; GLY-1740; CYS-1858; ASP-1869; ARG-1968; CYS-1998; ASN-2056; VAL-2070; ASN-2082; CYS-2145; ASP-2157; ALA-2173 AND PRO-2330;
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.