CTNS:q


TABLE 1. NovelMutations Detected in PatientsWith Cystinosis Mutation allele 2 (novel) Family Origin Mutation allele1 (novel or previously reported)


Nucleotide change Exon Amino acid change Predicted eˇect on protein sequence Infantile


P126 Portugal 340A>C 340A>C 3 M1L RemovalMstart codon


P66 France 57 kb deletiona 342G>A 3 M1I RemovalMstart codon


P100 France 57 kb deletiona 354G>A 3 W5X Truncated 5 amino acid protein


P96 France 1354G4Ab 564+1G>A 5 Donor splice site SeeTable 2


P86 France 564+1del4 564+1del4 5 Donor splice site SeeTable 2


P119 France 57 kb deletiona 1004A>G 9 Q222R Amino acid change in 3rd TM


I93 Israel (Israeli-Arab) 1020G>A 1020G>A 9 Donor splice site SeeTable 2


P64 France 1261insG b 1192-2A G 11 Acceptor splice site SeeTable 2


P118 Finland 1203C4A 1203C>A 11 N288K Amino acid change in 5th inter-TM loop


P67 France 57 kb deletiona 1375-1386del12 12 DVVF346-349 In-frame deletion of 4 amino acids in 7th TM


P57 France 57 kb deletiona 1386-1387ins12 12 DVEF349-350 In-frame deletion of 4 amino acids in 7th TM Atypical


P61 Algeria 668G>T 668G>T 6G110Vanddonor splice site Amino acid change inN-terminal region, see alsoTable 2 Juvenile


I94 Israel (Jewish- Moroccan) not identi˘ed 869A>C 8 N177T Amino acid change in 2nd TM


P123 France 57 kb deletiona 938C>T 9 P200L Amino acid change



Nomenclature according toAntonarakis and aOriginally reported byTown et al. [1998]. bOriginally reported by Shotelersuk et al. [1998].0






RESEARCH ARTICLE Identification of 14 Novel CTNS Mutations and Characterization of Seven Splice Site Mutations Associated With Cystinosis Vasiliki Kalatzis,1 Lola Cohen-Solal,1 Be´atrice Cordier,2 Yaacov Frishberg,3 Markus Kemper,4 E. Matti Nuutinen,5 Eric Legrand,7 Pierre Cochat,2 and Corinne Antignac1,6n 1Inserm U423, HoĆpital Necker-Enfants Malades, Universite´ Rene´ Descartes, Paris, France; 2Department of Pediatrics, HoĆpital Edouard Herriot, Universite´ Claude Bernard, Lyon, France; 3Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel; 4Department of Pediatric Nephrology, University Children s Hospital, Zu¨rich, Switzerland; 5Department of Pediatrics, University of Oulu, Oulu, Finland; 6Department of Genetics, HoĆpital Necker-Enfants Malades, Universite´ Rene´ Descartes, Paris, France; 7Department of Medicine, Centre Hospitalier, Annonay, France e HUMAN MUTATION 20:439^446 (2002)



http://download.interscience.wiley.com/cgi-bin/fulltext?ID=100520114&PLACEBO=IE.pdf&mode=pdf



http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=AJ222967.1




Information on mRNA AJ222967


Description: Homo sapiens mRNA for cystinosin.


Gene: CTNS


Product: cystinosin


Author: Town,M., J


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