UniProtKB/SwissProt variant VAR

Coagulation factor VIII
Gene: F8
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Variant information Variant position:

1980
Type of variant:

LP/P [Disclaimer]
Residue change:

From Histidine (H) to Tyrosine (Y) at position 1980 (H1980Y, p.His1980Tyr).
Physico-chemical properties:

Change from medium size and polar (H) to large size and aromatic (Y)
BLOSUM score:

2
Variant description:

In HEMA; mild.
Other resources:

Variant rs137852451 [ dbSNP | Ensembl ]

Sequence information Variant position:

1980
Protein sequence length:

2351
Location on the sequence:

RWYLLSMGSNENIHSIHFSG H VFTVRKKEEYKMALYNLYPG
Residue conservation:

Human                         RWYLLSMGSNENIHSIHFSGHVFTVRKKEEYKMALYNLYPG

                              RWYLLSMGSNENIHSIHFSGHVFTVRKKEEYKMAVYNLYPG

Mouse                         RWYLLSMGNNENIQSIHFSGHVFTVRKKEEYKMAVYNLYPG

Pig                           RWYLLSMGSNENIHSIHFSGHVFSVRKKEEYKMAVYNLYPG

Sequence annotation in neighborhood:

Type	Positions	Description
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
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00451: Variant p.His1980Tyr