A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient

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 en...

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Main Authors:	D. Vaigundan, Neha V. Kalmankar, J. Krishnappa, N. Yellappa Gowda, A. V. M. Kutty, Patnam R. Krishnaswamy
Format:	Article
Language:	English
Published:	Hindawi Limited 2014-01-01
Series:	BioMed Research International
Online Access:	http://dx.doi.org/10.1155/2014/706827

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spelling	doaj-219a052f89364316ad4bb58787c8bc3c2020-11-24T22:12:49ZengHindawi LimitedBioMed Research International2314-61332314-61412014-01-01201410.1155/2014/706827706827A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis PatientD. Vaigundan0Neha V. Kalmankar1J. Krishnappa2N. Yellappa Gowda3A. V. M. Kutty4Patnam R. Krishnaswamy5Genomics and Central Research Laboratory, Department of Cell Biology and Molecular Genetics, Sri Devaraj Urs Academy of Higher Education and Research, Tamaka, Kolar 563101, IndiaMolecular Biophysics Unit, Indian Institute of Science, Bangalore 560012, IndiaDepartment of Paediatrics, Sri Devaraj Urs Medical College, Tamaka, Kolar 563101, IndiaDepartment of Paediatrics, Sri Devaraj Urs Medical College, Tamaka, Kolar 563101, IndiaGenomics and Central Research Laboratory, Department of Cell Biology and Molecular Genetics, Sri Devaraj Urs Academy of Higher Education and Research, Tamaka, Kolar 563101, IndiaGenomics and Central Research Laboratory, Department of Cell Biology and Molecular Genetics, Sri Devaraj Urs Academy of Higher Education and Research, Tamaka, Kolar 563101, IndiaStructure-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.http://dx.doi.org/10.1155/2014/706827
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	D. Vaigundan Neha V. Kalmankar J. Krishnappa N. Yellappa Gowda A. V. M. Kutty Patnam R. Krishnaswamy
spellingShingle	D. Vaigundan Neha V. Kalmankar J. Krishnappa N. Yellappa Gowda A. V. M. Kutty Patnam R. Krishnaswamy A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient BioMed Research International
author_facet	D. Vaigundan Neha V. Kalmankar J. Krishnappa N. Yellappa Gowda A. V. M. Kutty Patnam R. Krishnaswamy
author_sort	D. Vaigundan
title	A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient
title_short	A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient
title_full	A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient
title_fullStr	A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient
title_full_unstemmed	A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient
title_sort	novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient
publisher	Hindawi Limited
series	BioMed Research International
issn	2314-6133 2314-6141
publishDate	2014-01-01
description	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.
url	http://dx.doi.org/10.1155/2014/706827
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A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient

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