UniProtKB/Swiss-Prot P00742: Variant p.Gly262Asp

Coagulation factor X
Gene: F10
Feedback?

Variant information Variant position:

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

US 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 Glycine (G) to Aspartate (D) at position 262 (G262D, p.Gly262Asp). 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 glycine (G) to medium size and acidic (D) 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 FA10D; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1393705267 [ dbSNP | Ensembl ]

Sequence information Variant position:

262 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

488 The length of the canonical sequence.
Location on the sequence:

KDGECPWQALLINEENEGFC G GTILSEFYILTAAHCLYQAK 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                         KDGECPWQALLI-NEENEGFCGGTILSEFYILTAAHCLYQAK

Mouse                         KDGECPWQALLI-NEDNEGFCGGTILNEFYILTAAHCLHQA

Rat                           KRGECPWQALLFSDEETDGFCGGTILNEFYILTAAHCLHQA

Bovine                        AEGECPWQALLV-NEENEGFCGGTILNEFYVLTAAHCLHQA

Rabbit                        RDGECPWQALLV-NEENEGFCGGTILSEYHVLTAAHCLHQA

Chicken                       RPGECPWQAVLI-NEKGEEFCGGTILNEDFILTAAHCINQS

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	41 – 488	Coagulation factor X
Chain	183 – 488	Factor X heavy chain
Chain	235 – 488	Activated factor Xa heavy chain
Domain	235 – 467	Peptidase S1
Active site	276 – 276	Charge relay system
Disulfide bond	172 – 342	Interchain (between light and heavy chains)
Disulfide bond	261 – 277
Beta strand	259 – 265

Literature citations
Frequency of the p.Gly262Asp mutation in congenital Factor X deficiency.
Epcacan S.; Menegatti M.; Akbayram S.; Cairo A.; Peyvandi F.; Oner A.F.;
Eur. J. Clin. Invest. 45:1087-1091(2015)
Cited for: VARIANTS FA10D 176-THR--GLN-186 DEL AND ASP-262;

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.