A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: The p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer

Human Mutation

Volumn 32, Issue 3, 2011, Pages

  Wang, Kai Jie ^a   Wang, Sha ^b   Cao, Ni Qian ^b   Yan, Yong Bin ^b   Zhu, Si Quan ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

^b TSINGHUA UNIVERSITY   (China)

Author keywords

B1 A3 crystallin; B1 crystallin; Cataract microcornea; CRYBB1; Structural stability

Indexed keywords

ARGININE; BETA CRYSTALLIN; SERINE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BETAB1 CRYSTALLIN GENE; CODON; COMPARATIVE STUDY; CONGENITAL CATARACT; CONGENITAL CATARACT MICROCORNEA SYNDROME; CONTROLLED STUDY; EXON; FEMALE; GENE; GENE CLUSTER; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC RECOMBINATION; HUMAN; LENS; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN INTERACTION; THERMOSTABILITY;

ALLELES; AMINO ACID SUBSTITUTION; BASE SEQUENCE; BETA-CRYSTALLIN A CHAIN; BETA-CRYSTALLIN B CHAIN; CATARACT; CORNEAL DISEASES; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENETIC LINKAGE; HUMANS; LENS, CRYSTALLINE; MUTATION, MISSENSE; PROTEIN MULTIMERIZATION; PROTEIN STABILITY; SEQUENCE ANALYSIS, DNA;

EID: 79951811352     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21436     Document Type: Article

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