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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07225: Variant p.Ser501Ala

Vitamin K-dependent protein S
Gene: PROS1
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Variant information Variant position: help 501
Type of variant: help LP/P [Disclaimer]
Residue change: help From Serine (S) to Alanine (A) at position 501 (S501A, p.Ser501Ala).
Physico-chemical properties: help Change from small size and polar (S) to small size and hydrophobic (A)
BLOSUM score: help 1
Variant description: help In THPH5.
Other resources: help


Sequence information Variant position: help 501
Protein sequence length: help 676
Location on the sequence: help KGSYYPGSGIAQFHIDYNNV S SAEGWHVNVTLNIRPSTGTG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 42 – 676 Vitamin K-dependent protein S
Domain 484 – 666 Laminin G-like 2
Site 499 – 499 Not glycosylated; in variant Heerlen
Glycosylation 499 – 499 N-linked (GlcNAc...) asparagine
Glycosylation 509 – 509 N-linked (GlcNAc...) asparagine
Mutagenesis 515 – 515 R -> AE. Markedly reduced secretion of the mutant.
Mutagenesis 515 – 515 R -> K. No change in secretion of the mutant.



Literature citations
Molecular basis for protein S hereditary deficiency: genetic defects observed in 118 patients with type I and type IIa deficiencies.
Borgel D.; Duchemin J.; Alhenc-Gelas M.; Matheron C.; Aiach M.; Gandrille S.;
J. Lab. Clin. Med. 128:218-227(1996)
Cited for: VARIANTS THPH5 SER-111; GLY-157; GLY-161; GLU-364; PRO-446; ARG-475; ALA-501; MET-508; CYS-515; PRO-525; ALA-532; TYR-568; ARG-575 AND ARG-666; VARIANT PRO-501;
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.