Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00451: Variant p.Asp101Val

Coagulation factor VIII
Gene: F8
Feedback?
Variant information Variant position: help 101
Type of variant: help LP/P [Disclaimer]
Residue change: help From Aspartate (D) to Valine (V) at position 101 (D101V, p.Asp101Val).
Physico-chemical properties: help Change from medium size and acidic (D) to medium size and hydrophobic (V)
BLOSUM score: help -3
Variant description: help In HEMA.


Sequence information Variant position: help 101
Protein sequence length: help 2351
Location on the sequence: help AKPRPPWMGLLGPTIQAEVY D TVVITLKNMASHPVSLHAVG
Residue conservation: help 
Human                         AKPRPPWMGLLGPTIQAEVYDTVVITLKNMASHPVSLHAVG

                              AKPRPPWMGLLGPTIQAEVYDTVVIVLKNMASHPVSLHAVG

Mouse                         AKPRPPWMGLLGPTIWTEVHDTVVITLKNMASHPVSLHAVG

Pig                           ARPRPPWMGLLGPTIQAEVYDTVVVTLKNMASHPVSLHAVG
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 20 – 348 F5/8 type A 1
Domain 20 – 198 Plastocyanin-like 1
Alternative sequence 9 – 2143 Missing. In isoform 2.



Literature citations
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;
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.