Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00451: Variant p.Arg2323Gly

Coagulation factor VIII
Gene: F8
Feedback?
Variant information Variant position: help 2323
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Glycine (G) at position 2323 (R2323G, p.Arg2323Gly).
Physico-chemical properties: help Change from large size and basic (R) to glycine (G)
BLOSUM score: help -2
Variant description: help In HEMA; moderate.
Other resources: help


Sequence information Variant position: help 2323
Protein sequence length: help 2351
Location on the sequence: help QGNQDSFTPVVNSLDPPLLT R YLRIHPQSWVHQIALRMEVL
Residue conservation: help 
Human                         QGNQDSFTPVVNSLDPPLLTRYLRIHPQSWVHQIALRMEVL

                              QGNRDSSTPVRNRLEPPLVARYVRLHPQSWAHHIALRLEVL

Mouse                         QGNQDSSTPMMNSLDPPLLTRYLRIHPQIWEHQIALRLEIL

Pig                           QGNQDSSTPVVNALDPPLFTRYLRIHPTSWAQHIALRLEVL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 20 – 2351 Coagulation factor VIII
Chain 1668 – 2351 Factor VIIIa light chain
Domain 2193 – 2345 F5/8 type C 2
Disulfide bond 2193 – 2345
Beta strand 2312 – 2335



Literature citations
Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure.
Liu M.-L.; Shen B.W.; Nakaya S.; Pratt K.P.; Fujikawa K.; Davie E.W.; Stoddard B.L.; Thompson A.R.;
Blood 96:979-987(2000)
Cited for: VARIANTS HEMA GLU-2106; CYS-2109; CYS-2169; CYS-2178; CYS-2182; ARG-2183; ILE-2192; PRO-2220; ALA-2251; LEU-2319; CYS-2323; GLY-2323; GLN-2326 AND THR-2339;
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.