UniProtKB/Swiss-Prot P00451: Variant p.Arg2182His

Coagulation factor VIII
Gene: F8
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Variant information Variant position:

2182 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Arginine (R) to Histidine (H) at position 2182 (R2182H, p.Arg2182His). 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 (H) 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
Variant description:

In HEMA; severe/moderate. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs137852466 [ dbSNP | Ensembl ]

Sequence information Variant position:

2182 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:

PIIARYIRLHPTHYSIRSTL R MELMGCDLNSCSMPLGMESK 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                         PIIARYIRLHPTHYSIRSTLRMELMGCDLNSCSMPLGMESK

                              PIIAQYIRLHPTHYSIRSTLRMELLGCDFNSCSMPLGMESK

Mouse                         PIIARYIRLHPTHSSIRSTLRMELMGCDLNSCSIPLGMESK

Pig                           PIVARYIRLHPTHYSIRSTLRMELMGCDLNSCSMPLGMQNK

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	1668 – 2351	Factor VIIIa light chain
Domain	2040 – 2188	F5/8 type C 1
Disulfide bond	2040 – 2188
Beta strand	2181 – 2188

Literature citations
Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes.
Theophilus B.D.M.; Enayat M.S.; Higuchi M.; Kazazian H.H. Jr.; Antonarakis S.E.; Hill F.G.H.;
Hum. Mutat. 11:334-334(1998)
Cited for: VARIANT HEMA HIS-2182; Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene.
Laprise S.L.; Mak E.K.; Killoran K.A.; Layman L.C.; Gray M.R.;
Hum. Mutat. 12:393-402(1998)
Cited for: VARIANTS HEMA VAL-439; CYS-1800; HIS-2169; HIS-2182 AND SER-2319; Factor VIII inhibitors in mild and moderate-severity haemophilia A.
Hay C.R.M.; Ludlam C.A.; Colvin B.T.; Hill F.G.H.; Preston F.E.; Wasseem N.; Bagnall R.; Peake I.R.; Berntorp E.; Mauser Bunschoten E.P.; Fijnvandraat K.; Kasper C.K.; White G.; Santagostino E.;
Thromb. Haemost. 79:762-766(1998)
Cited for: VARIANTS HEMA CYS-612; PHE-682; ARG-2028; CYS-2124; HIS-2169; HIS-2182; ASP-2200; CYS-2248 AND ILE-2279; Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch.
Waseem N.H.; Bagnall R.; Green P.M.; Giannelli F.;
Thromb. Haemost. 81:900-905(1999)
Cited for: VARIANTS HEMA CYS-24; ARG-26; TYR-113; SER-121; TRP-172; PRO-176; MET-181; VAL-214; THR-219; LYS-291; ALA-314; VAL-315; LYS-340; PHE-405; GLY-412; THR-470; GLU-474; ASN-478; CYS-484; GLY-490; ARG-498; TRP-546; CYS-550; HIS-561; ARG-584; THR-585; GLY-588; ASP-601; LYS-601; GLY-602; HIS-605; CYS-612; TRP-717; CYS-1708; GLN-1751; HIS-1800; CYS-1802; THR-1853; GLU-1864; PRO-1882; ILE-1888; LEU-1973; TRP-2016; ALA-2035; TYR-2040; CYS-2120; CYS-2145; HIS-2169; CYS-2178; HIS-2182; VAL-2183; VAL-2198; CYS-2248 AND GLY-2326; Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A.
Theophilus B.D.M.; Enayat M.S.; Williams M.D.; Hill F.G.H.;
Haemophilia 7:381-391(2001)
Cited for: VARIANTS HEMA ASP-132; LYS-141; GLU-466; THR-470; HIS-503; GLY-602; THR-1853; GLN-1985; ARG-2004; TRP-2016; TYR-2093; HIS-2169; HIS-2182; VAL-2198 AND GLN-2228; Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations.
Timur A.A.; Guergey A.; Aktuglu G.; Kavakli K.; Canatan D.; Olek K.; Caglayan S.H.;
Haemophilia 7:475-481(2001)
Cited for: VARIANTS HEMA ASN-67; PHE-117; ALA-137; TYR-267; CYS-301; HIS-301; TYR-348; LYS-475; ALA-579; CYS-612; CYS-683; LEU-698; TRP-710; CYS-1708; HIS-1788; LEU-1876; TRP-2016; GLU-2045; CYS-2178; CYS-2182; HIS-2182; PRO-2182; ALA-2307 AND LEU-2323; Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations.
Vidal F.; Farssac E.; Altisent C.; Puig L.; Gallardo D.;
Thromb. Haemost. 85:580-583(2001)
Cited for: VARIANTS HEMA ARG-193; CYS-391; CYS-550; CYS-612; HIS-1705; ARG-1782; GLU-1872; TRP-2016; PRO-2016; HIS-2169 AND HIS-2182; Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype.
Hill M.; Deam S.; Gordon B.; Dolan G.;
Haemophilia 11:133-141(2005)
Cited for: VARIANTS HEMA CYS-365; THR-470; SER-541; GLY-602; TRP-717; LYS-1701; CYS-1708; VAL-1727; ILE-1888; VAL-1966; TRP-2016; GLY-2018; LEU-2067; LEU-2162 AND HIS-2182;

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.