Novel mutations in exon 2 of MATN3 affect residues within the alpha-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3.

Human mutation

Volumn 29, Issue 2, 2008, Pages 330-

  Fresquet, Maryline ^a   Jackson, Gail C ^a   Loughlin, John ^a   Briggs, Michael D ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 2; COLLAGEN TYPE 9; MATRILIN 3; MUTANT PROTEIN; RECOMBINANT PROTEIN; SCLEROPROTEIN;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CHEMISTRY; CHONDRODYSPLASIA; EXON; GENETICS; HUMAN; INTRACELLULAR SPACE; KINETICS; MALE; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PROTEIN BINDING; PROTEIN SECONDARY STRUCTURE; PROTEIN TERTIARY STRUCTURE; PROTEIN TRANSPORT; SECRETION; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; COLLAGEN TYPE II; COLLAGEN TYPE IX; DNA MUTATIONAL ANALYSIS; EXONS; EXTRACELLULAR MATRIX PROTEINS; HUMANS; INTRACELLULAR SPACE; KINETICS; MALE; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; OSTEOCHONDRODYSPLASIAS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN BINDING; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; PROTEIN TRANSPORT; RECOMBINANT PROTEINS;

EID: 38949106692     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9518     Document Type: Article

References (0)