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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00451: Variant p.Ile307Ser

Coagulation factor VIII
Gene: F8
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Variant information Variant position: help 307
Type of variant: help LP/P [Disclaimer]
Residue change: help From Isoleucine (I) to Serine (S) at position 307 (I307S, p.Ile307Ser).
Physico-chemical properties: help Change from medium size and hydrophobic (I) to small size and polar (S)
BLOSUM score: help -2
Variant description: help In HEMA; moderate.


Sequence information Variant position: help 307
Protein sequence length: help 2351
Location on the sequence: help SIFLEGHTFLVRNHRQASLE I SPITFLTAQTLLMDLGQFLL
Residue conservation: help
Human                         SIFLEGHTFLVRNHRQASLEISPITFLTAQTLLMDLGQFLL

                              SIFLEGHTFLVRNHRQASLEISPITFLTAQTFLMDLGQFLL

Mouse                         SIFLEGHTFFVRNHRQASLEISPITFLTAQTLLIDLGQFLL

Pig                           SIFLEGHTFLVRHHRQASLEISPLTFLTAQTFLMDLGQFLL

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 206 – 348 Plastocyanin-like 2
Disulfide bond 267 – 348
Alternative sequence 9 – 2143 Missing. In isoform 2.
Beta strand 300 – 307



Literature citations
Experience of a single Italian center in genetic counseling for hemophilia: from linkage analysis to molecular diagnosis.
Tagariello G.; Belvini D.; Salviato R.; Are A.; De Biasi E.; Goodeve A.; Davoli P.;
Haematologica 85:525-529(2000)
Cited for: VARIANTS HEMA HIS-35; LEU-295; SER-307; CYS-1909; PRO-2058; GLN-2228 AND ARG-2332;
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.