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UniProtKB/Swiss-Prot P00451: Variant p.Leu1775Val

Coagulation factor VIII
Gene: F8
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Variant information Variant position: help 1775
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Valine (V) at position 1775 (L1775V, p.Leu1775Val).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Variant description: help In HEMA; moderate.
Other resources: help


Sequence information Variant position: help 1775
Protein sequence length: help 2351
Location on the sequence: help QEFTDGSFTQPLYRGELNEH L GLLGPYIRAEVEDNIMVTFR
Residue conservation: help 
Human                         QEFTDGSFTQPLYRGELNEHLGLLGPYIRAEVEDNIMVTFR

                              QEFTDGSFTQPLYRGELNEHLGLLGPYIRAEVEDNIVVTFK

Mouse                         QEFTDGSFSQPLYRGELNEHLGLLGPYIRAEVEDNIMVTFK

Pig                           REFADGSFTQPSYRGELNKHLGLLGPYIRAEVEDNIMVTFK
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 1713 – 1877 Plastocyanin-like 5
Alternative sequence 9 – 2143 Missing. In isoform 2.
Helix 1773 – 1775



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.