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gen 1 - Hum Genet(2009 126:329352 DOI...

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HUMAN GENE MUTATIONS Novel human pathological mutations Published online: 31 July 2009 Ó Springer-Verlag 2009 Gene symbol: HEXA Disease: Tay-Sachs disease Ephrem Chin, L. Bean, B. Coffee, M.R. Hegde Human Genetics, Emory University, 2165 North Decatur, Road, 30033, Decatur, USA, Tel.: +1-404-778 8438, Fax: +1-404-778 8559, E-mail: [email protected] Input for Missense / Nonsense Mutations ( single base-pair substitutions ) Accession Codon number Nucleotide substitution Amino acid substitution HM080090 497 TAT-TGT Tyr-Cys Gene symbol: SLC3A1 Disease: Cystinuria Thomas Eggermann Institut fu ¨r Humangenetik, RWTH Aachen, Pauwelsstr., 30, D-52074, Aachen, Germany, Tel.: +49-241-8088008, Fax: +49-241-8082394, E-mail: [email protected] Input for Missense / Nonsense Mutations ( single base-pair substitutions ) Accession Codon number Nucleotide substitution Amino acid substitution HM080091 397 TAT-TGT Tyr-Cys 123 Hum Genet (2009) 126:329–352 DOI 10.1007/s00439-009-0717-7
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Gene symbol: SLC3A1 Disease: Cystinuria Thomas Eggermann Institut fu ¨r Humangenetik, RWTH Aachen, Pauwelsstr., 30, D-52074, Aachen, Germany, Tel.: +49 241 8088008, Fax: +49 241 8082394, E-mail: [email protected] Input for Missense / Nonsense Mutations ( single base-pair substitutions ) Accession Codon number Nucleotide substitution Amino acid substitution HM080092 584 aAGA-TGA Arg-Term Gene symbol: SLC7A9 Disease: Cystinuria Thomas Eggermann Institut fu ¨r Humangenetik, RWTH Aachen, Pauwelsstr., 30, 52074, Aachen, Germany, E-mail: [email protected] Input for small deletions ( \ 21 bp ) Accession Deletion Codon number/location HD080027 CCAAGGA^AACacAAAGAATTTT 203 Gene symbol: ABCA4 Disease: Macular dystrophy Jana Aguirre-Lamban, R. Riveiro-Alvarez, D. Cantalapiedra, A. Avila-Fernandez, E. Vallespin, C. Villaverde-Montero, B. Gomez-Dominguez, C.L. Auz-Alexandre, M.J. Trujillo-Tiebas, C. Ayuso Genetics, Fundacion Jimenez Diaz, Reyes Catolicos, 2, 28040, Madrid, Spain, Tel.: +34-91-5504872, E-mail: [email protected] Input for Missense / Nonsense Mutations ( single base-pair substitutions ) Accession Codon number Nucleotide substitution Amino acid substitution HM080093 187 CGT-CAT Arg-His 330 Hum Genet (2009) 126:329–352 123
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Gene symbol: UBE3A Disease: Angelman Syndrome Evmorfia Tzagkaraki, Sofocleous Christalena, Fryssira Helen, Dinopoulos Argyris, Mavrou Ariadni, Kanavakis Emmanuel Medical Genetics, Athens University, Medical School, Thivon & Livadias, 11527, Athens, Greece, Tel.: 00302107467462, Fax: 00302107795553, E-mail: [email protected] Input for small insertions ( \ 21 bp ) Accession Insertion Codon number/location HI080014 GCTGAG^GCATgTGGTACAGAG 139 Comments : The mutation was detected by ECMA (Enzymatic Cleavage Mismatch Analysis) and characterized by direct sequencing (performed twice).The proband is a 27 months boy with microcephaly and presents a typical for Angelman EEG. Mutation analysis for both parents revealed normal sequences. Sequencing results available upon request. Gene symbol: JAG1 Disease: Allagille syndrome Jay Ellison Medical Genetics, Mayo Clinic, 200 First St SW, 55905, Rochester, USA, Tel.: 507-284-8208, Fax: 507-284-1067, E-mail: [email protected] Input for small insertions ( \ 21 bp ) Accession Insertion Codon number/location HI080015 TCCTCCAG_I16E17_GTt^GACAGTCAGT 706; c.2115dupT; p.Asp706Stop Comments : cacgt(T)gaca T is the inserted base.
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