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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00451: Variant p.Arg490Gly

Coagulation factor VIII
Gene: F8
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Variant information Variant position: help 490
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Glycine (G) at position 490 (R490G, p.Arg490Gly).
Physico-chemical properties: help Change from large size and basic (R) to glycine (G)
BLOSUM score: help -2
Variant description: help In HEMA.
Other resources: help


Sequence information Variant position: help 490
Protein sequence length: help 2351
Location on the sequence: help PLLYGEVGDTLLIIFKNQAS R PYNIYPHGITDVRPLYSRRL
Residue conservation: help 
Human                         PLLYGEVGDTLLIIFKNQASRPYNIYPHGITDVRPLYSRRL

                              PLLYGEVGDTLLIIFKNQASRPYNIYPHGINYVTPLHTGRL

Mouse                         PLLYGEVGDTLLIIFKNQASRPYNIYPHGITDVSPLHARRL

Pig                           PLLYGEVGDTLLIIFKNKASRPYNIYPHGITDVSALHPGRL
Sequence annotation in neighborhood: help
TypePositionsDescription
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 399 – 730 F5/8 type A 2
Domain 399 – 573 Plastocyanin-like 3
Alternative sequence 9 – 2143 Missing. In isoform 2.
Beta strand 488 – 490



Literature citations
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;
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.