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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07225: Variant p.Glu204Gly

Vitamin K-dependent protein S
Gene: PROS1
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Variant information Variant position: help 204
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamate (E) to Glycine (G) at position 204 (E204G, p.Glu204Gly).
Physico-chemical properties: help Change from medium size and acidic (E) to glycine (G)
BLOSUM score: help -2
Variant description: help In THPH5.


Sequence information Variant position: help 204
Protein sequence length: help 676
Location on the sequence: help CSCKNGFVMLSNKKDCKDVD E CSLKPSICGTAVCKNIPGDF
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 42 – 676 Vitamin K-dependent protein S
Domain 201 – 242 EGF-like 3; calcium-binding
Beta strand 204 – 212



Literature citations
Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study.
Biguzzi E.; Razzari C.; Lane D.A.; Castaman G.; Cappellari A.; Bucciarelli P.; Fontana G.; Margaglione M.; D'Andrea G.; Simmonds R.E.; Rezende S.M.; Preston R.; Prisco D.; Faioni E.M.;
Hum. Mutat. 25:259-269(2005)
Cited for: VARIANTS THPH5 ALA-67; TYR-88; GLY-129; ASN-144; PHE-175; GLY-204; CYS-266; SER-267; ASP-336; ARG-357; PRO-446; PRO-515; ASP-521; LYS-611; ASP-638 AND TYR-639; VARIANTS LEU-76; PRO-501; MET-559; LEU-562 AND HIS-583; CHARACTERIZATION OF VARIANTS PROS1 DEFICIENCY ALA-67; TYR-88; GLY-129; PHE-175; GLY-204; CYS-266; SER-267; ASP-336; ARG-357; PRO-446; PRO-515; ASP-521; LYS-611; ASP-638 AND TYR-639; CHARACTERIZATION OF VARIANTS LEU-76; LEU-562 AND HIS-583;
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.