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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07225: Variant p.Gly336Val

Vitamin K-dependent protein S
Gene: PROS1
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Variant information Variant position: help 336
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Valine (V) at position 336 (G336V, p.Gly336Val).
Physico-chemical properties: help Change from glycine (G) to medium size and hydrophobic (V)
BLOSUM score: help -3
Variant description: help In THPH5; expresses very low/undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found.


Sequence information Variant position: help 336
Protein sequence length: help 676
Location on the sequence: help RLPEISRFSAEFDFRTYDSE G VILYAESIDHSAWLLIALRG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 42 – 676 Vitamin K-dependent protein S
Domain 299 – 475 Laminin G-like 1



Literature citations
Genetic and phenotypic variability between families with hereditary protein S deficiency.
Rezende S.M.; Lane D.A.; Zoeller B.; Mille-Baker B.; Laffan M.; Dalhbaeck B.; Simmonds R.E.;
Thromb. Haemost. 87:258-265(2002)
Cited for: VARIANTS THPH5 GLU-18; CYS-90; SER-258; VAL-336 AND PRO-664; CHARACTERIZATION OF VARIANTS THPH5 GLU-18; CYS-90; SER-258 VAL-336 AND PRO-664;
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.