title: A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient.
abstract: Structure-function implication on a novel homozygous Trp250/Gly mutation of transglutaminase-1 (TGM1) observed in a patient of autosomal recessive congenital ichthyosis is invoked from a bioinformatics analysis. Structural consequences of this mutation are hypothesized in comparison to homologous enzyme human factor XIIIA accepted as valid in similar structural analysis and are projected as guidelines for future studies at an experimental level on TGM1 thus mutated.
authors.affiliation: Genomics and Central Research Laboratory, Department of Cell Biology and Molecular Genetics, Sri Devaraj Urs Academy of Higher Education and Research, Tamaka, Kolar 563101, India.
authors.forename: D
authors.initials: D
authors.lastname: Vaigundan
authors.affiliation: Molecular Biophysics Unit, Indian Institute of Science, Bangalore 560012, India ; National Centre for Biological Sciences, Bangalore 560065, India.
authors.forename: Neha V
authors.initials: NV
authors.lastname: Kalmankar
authors.affiliation: Department of Paediatrics, Sri Devaraj Urs Medical College, Tamaka, Kolar 563101, India.
authors.forename: J
authors.initials: J
authors.lastname: Krishnappa
authors.affiliation: Department of Paediatrics, Sri Devaraj Urs Medical College, Tamaka, Kolar 563101, India.
authors.forename: N Yellappa
authors.initials: NY
authors.lastname: Gowda
authors.affiliation: Genomics and Central Research Laboratory, Department of Cell Biology and Molecular Genetics, Sri Devaraj Urs Academy of Higher Education and Research, Tamaka, Kolar 563101, India.
authors.forename: A V M
authors.initials: AV
authors.lastname: Kutty
authors.affiliation: Genomics and Central Research Laboratory, Department of Cell Biology and Molecular Genetics, Sri Devaraj Urs Academy of Higher Education and Research, Tamaka, Kolar 563101, India.
authors.forename: Patnam R
authors.initials: PR
authors.lastname: Krishnaswamy
mesh_terms: D001483:Base Sequence; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000175:diagnosis* / Q000235:genetics*; D007223:Infant; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011503:Transglutaminases / Q000235:genetics*
chemical_list: D011503:Transglutaminases; C105804:transglutaminase 1