PMID: 8591581Jan 1, 1995Paper

A method to estimate effects of amino acid substitutions in blood coagulation factor IX from hemophilia B patients

Medinfo
H Furutani

Abstract

Hemophilia B is a hereditary disease caused by defects in coagulation factor IX. Accumulation of sequence data in the hemophilia B database makes it possible to study this disease at the molecular level. The most common mutations reported in the database are amino acid substitutions. Activity of factor IX in a patient's blood depends on a position of the substitution and combination of original and substituting amino acids. We have developed a method to estimate the effects of amino acid substitutions in factor IX of hemophilia B patients. We adopted two kinds of scores: (1) amino acid homology matrices, and (2) distances obtained from physical-chemical properties of amino acids. We found that: (1) the distance obtained from molecular volume shows the highest correlation with factor IX activity among four physical-chemical properties of amino acids, and (2) Dayhoff's 250PAM matrix gives the highest correlation among three homology matrices. We performed a multiple regression analysis for the estimation of factor IX activity by using four amino acid parameters and obtained a distance matrix, which gives the multiple correlation coefficient 0.6. Hemophilia is a hereditary, X-linked, recessive hemorrhagic disorder. About three-fou...Continue Reading

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