Multiple substitutions at single site: Interpreting the effect of Asn92 mutations in human coagulation factor IX [10]

Haemophilia

Volumn 14, Issue 2, 2008, Pages 396-399

  Sharma, A ^a   Chavali, S ^a   Mahajan, A ^a   Biswas, P ^b   Bharadwaj, Dwaipayan ^a  

^a CSIR INSTITUTE OF GENOMICS AND INTEGRATIVE BIOLOGY   (India)

^b UNIVERSITY OF DELHI   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ASPARAGINE; BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 10A; BLOOD CLOTTING FACTOR 8A; BLOOD CLOTTING FACTOR 9; EPIDERMAL GROWTH FACTOR RECEPTOR 2; GLYCINE; LYSINE; SERINE; TYROSINE;

AMINO ACID SUBSTITUTION; DISEASE SEVERITY; GENE MUTATION; GENETIC CONSERVATION; HEMOPHILIA B; HUMAN; LETTER; LIGAND BINDING; MULTIVARIATE ANALYSIS; PATHOGENESIS; PHENOTYPE; PHYSICAL CHEMISTRY; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DEGRADATION; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN POLYMORPHISM; PROTEIN STRUCTURE; SITE DIRECTED MUTAGENESIS; WILD TYPE;

BLOOD COAGULATION; FACTOR IX; HEMOPHILIA B; HUMANS; MUTATION; PROTEIN CONFORMATION;

EID: 40349088967     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2007.01637.x     Document Type: Letter

References (5)

1. Mahajan A, Chavali S, Ghosh S et al. Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. Hum Mutat 2007; 28: 526.
2. Chang YJ, Wu HL, Hamaguchi N, Hsu YC, Lin SW. Identification of functionally important residues of the epidermal growth factor-2 domain of factor IX by alanine-scanning mutagenesis. Residues Asn(89)-Gly(93) are critical for binding factor VIIIa. J Biol Chem 2002; 277: 25393-9.
3. Sunyaev SR, Eisenhaber F, Rodchenkov IV, Eisenhaber B, Tumanyan VG, Kuznetsov EN. PSIC: Profile extraction from sequence alignments with position-specific counts of independent observations. Protein Eng 1999; 12: 387-94.
4. Stone EA, Sidow A. Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity. Genome Res 2005; 15: 978-86.
5. Fribourg C, Meijer AB, Mertens K. The interface between the EGF2 domain and the protease domain in blood coagulation factor IX contributes to factor VIII binding and factor X activation. Biochemistry 2006; 45: 10777-85.