An abnormal protein C (protein C Yonago) with an amino acid substitution of Gly for Arg-15 caused by a single base mutation of C to G in codon 57 (CGG-->GGG). Deteriorated calcium-dependent conformation of the gamma-carboxyglutamic acid domain relevant to a thrombotic tendency.

Mimuro, J; Muramatsu, S; Kaneko, M; Yoshitake, S; Iijima, K; Nakamura, K; Sakata, Y; Matsuda, M

Mimuro, J; Muramatsu, S; Kaneko, M; Yoshitake, S; Iijima, K; Nakamura, K; Sakata, Y; Matsuda, M.

Affiliation

Mimuro J; Division of Hemostasis and Thrombosis Research, Jichi Medical School, Tochigi-Ken, Japan.

Int J Hematol ; 57(1): 9-14, 1993 Jan.

Article in En | MEDLINE | ID: mdl-8477066

Subject(s)

Arginine/genetics; Codon; Glycine/genetics; Mutation; Protein C/genetics; 1-Carboxyglutamic Acid/genetics; Amino Acid Sequence; Base Sequence; Calcium/physiology; Humans; Molecular Sequence Data; Protein Structure, Tertiary; Thrombosis/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: Arginine / Codon / Protein C / Glycine / Mutation Type of study: Prognostic_studies Limits: Humans Language: En Journal: Int J Hematol Journal subject: HEMATOLOGIA Year: 1993 Type: Article Affiliation country: Japan

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