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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08709: Variant p.Cys238Tyr

Coagulation factor VII
Gene: F7
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Variant information Variant position: help 238
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Tyrosine (Y) at position 238 (C238Y, p.Cys238Tyr).
Physico-chemical properties: help Change from medium size and polar (C) to large size and aromatic (Y)
BLOSUM score: help -2
Variant description: help In FA7D.
Other resources: help


Sequence information Variant position: help 238
Protein sequence length: help 466
Location on the sequence: help VCPKGECPWQVLLLVNGAQL C GGTLINTIWVVSAAHCFDKI
Residue conservation: help 
Human                         VCPKGECPWQVLLLVNGAQLCGGTLINTIWVVSAAHCFDKI

Chimpanzee                    VCPKGECPWQVLLLVNGAQLCGGTLINTIWVVSAAHCFDKI

Mouse                         VCPKGECPWQAVLKINGLLLCGAVLLDARWIVTAAHCFDNI

Rat                           VCPKGECPWQAVLKFNEALLCGAVLLDTRWIVTAAHCFDKF

Bovine                        VCPKGECPWQAMLKLNGALLCGGTLVGPAWVVSAAHCFERL

Rabbit                        VCPKGECPWQAALMNGSTLLCGGSLLDTHWVVSAAHCFDKL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 213 – 466 Factor VII heavy chain
Domain 213 – 452 Peptidase S1
Active site 253 – 253 Charge relay system
Disulfide bond 195 – 322
Disulfide bond 238 – 254
Beta strand 235 – 242



Literature citations
A missense mutation (178Cys-->Tyr) and two neutral dimorphisms (115His and 333Ser) in the human coagulation factor VII gene.
Marchetti G.; Ferrati M.; Patracchini P.; Redaelli R.; Bernardi F.;
Hum. Mol. Genet. 2:1055-1056(1993)
Cited for: VARIANT FA7D TYR-238;
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.