UniProtKB/Swiss-Prot P00451: Variant p.Asp1260Glu

Coagulation factor VIII
Gene: F8
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Variant information Variant position:

1260 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 Aspartate (D) to Glutamate (E) at position 1260 (D1260E, p.Asp1260Glu). 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:

Similar physico-chemical property. Both residues are medium size and acidic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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 rs1800291 [ dbSNP | Ensembl ]

Sequence information Variant position:

1260 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:

KNFMKNLFLLSTRQNVEGSY D GAYAPVLQDFRSLNDSTNRT 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                         KNFMKNLFLLSTRQNVEGSYDGAYAPVLQDFRSLNDSTNRT

                              KNFLKNLFLLSTKQNVAGLEEQPYTPILQDTRSLNDSPHSE

Mouse                         KNFLKDILILGTRQNISLYE--VHVPVLQNITSINNSTNTV

Pig                           KNFLRNIFHQSTEPSVEGFDGGSHAPVPQDSRSLNDSAERA

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	760 – 1332	Factor VIII B chain
Region	760 – 1667	B
Glycosylation	1274 – 1274	N-linked (GlcNAc...) asparagine
Glycosylation	1278 – 1278	N-linked (GlcNAc...) asparagine
Alternative sequence	9 – 2143	Missing. In isoform 2.

Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLU-1260 AND VAL-2257; Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.
Becker J.; Schwaab R.; Moeller-Taube A.; Schwaab U.; Schmidt W.; Brackmann H.H.; Grimm T.; Olek K.; Oldenburg J.;
Am. J. Hum. Genet. 58:657-670(1996)
Cited for: VARIANTS HEMA ARG-26; LYS-48; ASP-89; ASP-99; VAL-101; ARG-117; GLY-135; ASP-219; ARG-278; LEU-301; GLN-302 DEL; PRO-327; PRO-659; LEU-1012; GLU-1260; CYS-1708; ASN-1865; ARG-1873; THR-1971; TRP-2016; GLN-2228; LEU-2326 AND SER-2344; 11 hemophilia A patients without mutations in the factor VIII encoding gene.
Klopp N.; Oldenburg J.; Uen C.; Schneppenheim R.; Graw J.;
Thromb. Haemost. 88:357-360(2002)
Cited for: VARIANTS HEMA ASP-147; CYS-301; CYS-612; VAL-1945; CYS-2178 AND GLN-2326; VARIANT GLU-1260;

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.