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UniProtKB/Swiss-Prot P00451: Variant p.Trp1908Leu

Coagulation factor VIII
Gene: F8
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Variant information Variant position: help 1908
Type of variant: help LP/P [Disclaimer]
Residue change: help From Tryptophan (W) to Leucine (L) at position 1908 (W1908L, p.Trp1908Leu).
Physico-chemical properties: help Change from large size and aromatic (W) to medium size and hydrophobic (L)
BLOSUM score: help -2
Variant description: help In HEMA; mild.


Sequence information Variant position: help 1908
Protein sequence length: help 2351
Location on the sequence: help RQVTVQEFALFFTIFDETKS W YFTENMERNCRAPCNIQMED
Residue conservation: help 
Human                         RQVTVQEFALFFTIFDETKSWYFTENMERNCRAPCNIQMED

                              RQVTVQEFALVFTIFDETKSWYFTENLERNCRAPCNVQKED

Mouse                         RQVSVQEFALLFTIFDETKSWYFTENVKRNCKTPCNFQMED

Pig                           RQVTVQEFALFFTIFDETKSWYFTENVERNCRAPCHLQMED
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 20 – 2351 Coagulation factor VIII
Chain 1668 – 2351 Factor VIIIa light chain
Domain 1713 – 2040 F5/8 type A 3
Domain 1887 – 2040 Plastocyanin-like 6
Alternative sequence 9 – 2143 Missing. In isoform 2.



Literature citations
Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations.
Tavassoli K.; Eigel A.; Pollmann H.; Horst J.;
Hum. Genet. 100:508-511(1997)
Cited for: VARIANTS HEMA GLY-33; CYS-639; HIS-1800; LEU-1908 AND ARG-2106;
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.