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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07225: Variant p.Phe72Cys

Vitamin K-dependent protein S
Gene: PROS1
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Variant information Variant position: help 72
Type of variant: help LP/P [Disclaimer]
Residue change: help From Phenylalanine (F) to Cysteine (C) at position 72 (F72C, p.Phe72Cys).
Physico-chemical properties: help Change from large size and aromatic (F) to medium size and polar (C)
BLOSUM score: help -2
Variant description: help In THPH5.


Sequence information Variant position: help 72
Protein sequence length: help 676
Location on the sequence: help GNLERECIEELCNKEEAREV F ENDPETDYFYPKYLVCLRSF
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 42 – 676 Vitamin K-dependent protein S
Domain 42 – 87 Gla
Modified residue 55 – 55 4-carboxyglutamate
Modified residue 57 – 57 4-carboxyglutamate
Modified residue 60 – 60 4-carboxyglutamate
Modified residue 61 – 61 4-carboxyglutamate
Modified residue 66 – 66 4-carboxyglutamate
Modified residue 67 – 67 4-carboxyglutamate
Modified residue 70 – 70 4-carboxyglutamate
Modified residue 73 – 73 4-carboxyglutamate
Modified residue 77 – 77 4-carboxyglutamate



Literature citations
Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of the protein S active gene.
Gandrille S.; Borgel D.; Eschwege-Gufflet V.; Aillaud M.; Dreyfus M.; Matheron C.; Gaussem P.; Abgrall J.F.; Jude B.; Sie P.; Toulon P.; Aiach M.;
Blood 85:130-138(1995)
Cited for: VARIANTS THPH5 LEU-40; HIS-41; ALA-67; CYS-72; MET-78; HIS-90; ASN-144; GLY-245; LYS-249; TRP-265; ARG-265 AND ASN-376; VARIANTS LEU-76 AND VAL-385;
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.