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Gene Symbol: CRB1
Disease: Leber congenital amaurosis
E. Vallespin, D. Cantalapiedra, M. Garcia-Hoyos, R. Riveiro, C. Villaverde, M.J. Trujillo-Tiebas, C. Ayuso
Department of Genetics, Fundacion Jimenez Diaz, Avd. Reyes Catolicos 2, 28040 Madrid, Spain, e-mail: evallespin@fjd.es, Tel.: +34-91-5504872, Fax: +34-91-5448735
Small Deletions (<21 bp) | ||
Accession Number | Codon Number/location | Deletion |
Hd0510 | 166 | GATGGaattgatggTTACT |
Comments:
Gene Symbol: BMPR1A
Disease: Hereditary mixed polyposis syndrome
Xia Cao, Pei Yean Cheah
Department of Colorectal Surgery, Singapore General Hospital, Outram Road, Singapore 169608, Singapore, e-mail: gcscao@sgh.com.sg, Tel.: +65-63213636, Fax: +65-62262009
Small Deletions (<21 bp) | ||
Accession Number | Codon Number/location | Deletion |
Hd0511 | 42 | GACCAG∧AAAaagtcagaaaaTGGAGTA |
Comments: Cause frame-shift and stop at codon 69 (TGA)
Gene Symbol: VHL
Disease: von Hippel–Lindau syndrome
L.A. Mavrogiannis, E.G. Sheridan, L.D. Burnell, G.R. Taylor
DNA Laboratory, St James’s Hospital, Leeds LS9 7TF, UK, e-mail: lampros.mavrogiannis@leedsth.nhs.uk, Tel.: +44-113-2066058, Fax: +44-113-2467090
Small Deletions (<21 bp) | ||
Accession Number | Codon Number/location | Deletion |
Hd0512 | 57 | GCC∧GGgCGGCCG |
Comments: Apparently isolated case with multiple cerebellar haemangioblastomas. Ref. Seq.: L15409. Formal notation: c.171delG
Gene Symbol: CYP1B1
Disease: Glaucoma, Primary congenital
J.F.F. Brinkmann, C.P.E. Ottenheim, R.H.C. Zegers, P.T.V.M. de Jong, A.A.B. Bergen
Department of Clinical and Molecular Ophthalmogenetics, Division of Development, Aging and Genetic diseases of the eye, The Netherlands Ophthalmic Research Institute, KNAW, Meibergdreef 47, 1105 Amsterdam, The Netherlands, e-mail: J.Brinkmann@ioi.knaw.nl, Tel.: +31-20-5664598, Fax: +31-20-5666121
Small Deletions (<21 bp) | ||
Accession Number | Codon Number/location | Deletion |
Hd0513 | 152 | AGCATG∧atGCGCAAC |
Comments: Mutation: c.454–455delAT, GenBank accession U56438
Gene Symbol: SERPINC1
Disease: Antithrombin deficiency
L. Schleithoff, H.P. Seelig
Institute for Immunology and Molecular Genetics, Kriegsstrasse 99, 76133 Karlsruhe, Germany, e-mail: L.Schleithoff@seelig.de, Tel.: +49-72-185000176, Fax: +49-72-18500099
Small Deletions (<21 bp) | ||
Accession Number | Codon Number/location | Deletion |
Hd0514 | 417 | AAGTT∧CCTCTgAACACTATT |
Gene Symbol: CYP1B1
Disease: Primary congenital glaucoma
J. Nirmaladevi, T. Karthiyayini, G. Kumaramanickavel
SNONGC Department of Genetics and Molecular Biology, Sankara Nethralaya, 18 College Road, Chennai, Tamil Nadu 600 006, India, e-mail: nirmal_a2k@yahoo.com, Tel.: +91-44-28271616, Fax: +91-44-28254180
Small Deletions (<21 bp) | ||
Accession Number | Codon Number/location | Deletion |
Hd0515 | 132/E2 | CGGCCGC∧AGCAtGGCT |
Comments: Truncated dioxin-inducible cytochrome p450 protein
Gene Symbol: APC
Disease: Familial adenomatous polyposis coli
Maria Shahmoradgoli, O. Mueller, N. Kutzner, B. Noorinayer, M.R. Zali
Deutsches Krebsforschungszentrum, Abteilung Molekulare Genetik, B060 Im Neuenheimer Feld 280, 69120 Heidelberg, Germany, e-mail: m.shahmoradgoli@dkfz.de, Tel.: +49-6221-424619, Fax: +49-6221-424639
Small Deletions (<21 bp) | ||
Accession Number | Codon Number/location | Deletion |
Hd0518 | 1060 | ATGAA∧ATaaaacAAAGTGAGCAAAG |
Comments: Patient with classical familial adenomatous polyposis coli
Gene Symbol: SPAST
Disease: Spastic paraparesis
C. Depienne, C. Tallaksen, J.Y. Lephay, B. Bricka, S. Poea-Guyon, B. Fontaine, P. Labauge, A. Brice, A. Durr
INSERM U679, Hôpital de la Salpêtrière, 75013 Paris, France, e-mail: depienne@ccr.jussieu.fr, Tel.: +33-1-42162202, Fax: +33-1-44243658
Small Deletions (<21 bp) | ||
Accession Number | Codon Number/location | Deletion |
Hd0519 | Glu452GlyfsX456 | A∧GAAG |
Gene Symbol: SCN8A
Disease: Ataxia
M.H. Meisler, M.M. Trudeau, J.C. Dalton, J.W. Day, L.P.W. Ranum
Department of Human Genetics, University of Michigan, 4909 Buhl Box, 0618, Ann Arbor, Michigan 48109-0618, USA, e-mail: meislerm@umich.edu, Tel.: +1-734- 7635546, Fax: +1-734-7639691
Small Deletions (<21 bp) | ||
Accession Number | Codon Number/location | Deletion |
Hd0520 | 1719 | CGCCCC∧CctGAC |
Comments: P1719FSX1724
Gene Symbol: FECH
Disease: Porphyria, erythropoietic
E. Di Pierro, V. Brancaleoni, V. Moriondo, V. Besana, M.D. Cappellini
Department of Internal Medicine, University of Milan, Centro Anemie Congenite-Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena IRCCS, Italy, e-mail: elena.dipierro@unimi.it, Tel.: +39-02-55033363, Fax: +39-02-50320296
Gross Deletions | |
Accession Number | Description |
Hg0501 | Sequence analysis on the RNA showed loss of exons 3 and 4. DNA analysis revealed the presence of a 5,576 bp deletion defined by two short direct repeats of about 40 bp and two Alu sequences. The first breakpoint was located in intron 2 at nucleotide 12490, the second was located in intron 4 at nucleotide 18067. |
Comments: Genebank accession number of FECH sequence is AJ250235
Gene Symbol: CRB1
Disease: Leber congenital amaurosis
E. Vallespin, D. Cantalapiedra, M. Garcia-Hoyos, R. Riveiro, C. Villaverde, M.J. Trujillo-Tiebas, C. Ayuso
Department of Genetics, Fundacion Jimenez Diaz, Avd. Reyes Catolicos 2, 28040 Madrid, Spain, e-mail: evallespin@fjd.es, Tel.: +34-91-5504872, Fax: +34-91-5448735
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0534 | 1330 | GAG-TAG | Glu-Ter |
Gene Symbol: FOXE1
Disease: Nonsyndromic cleft palate
D. Teti, Mario Venza, Maria Visalli, Emanuele Bellacchio, Claudia Torino, Teresa Arrigo, Bruno Dallapiccola
Department of Experimental Pathology and Microbiology, Section of Experimental Pathology, Azienda Policlinico Universitario, Torre Biologica, 5° piano, Via Consolare Valeria 1, 98125 Messina, Italy, e-mail: dteti@unime.it, Tel.: +39-90-2213340, Fax: +39-90-2213341
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0535 | 49 | CTG-CCG | Leu-Pro |
Comments: Protein modeling suggested that the mutation L49P causes the distortion of the terziary structure of FOXE1 protein, which could impair the binding for the consensus sequences and influence the molecular recognition of nucleic acids by the transcription factor.
Gene Symbol: ABCA4
Disease: Stargardt disease 1
R.Riveiro-Alvarez, M.J. Trujillo, D. Cantalapiedra, E. Vallespin, C. Villaverde, D. Valverde, C. Ayuso
Fundacion Jimenez Diaz, Reyes Catolicos 2, 28040 Madrid, Spain, e-mail: rriveiro@fjd.es, Tel.: +34-91-5504872, Fax: +34-91-5448735
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0536 | 1315 | cCAG-TAG | Gln-Ter |
Comments: Mutations in the ABCA4 gene have been associated with autosomal recessive Stargardt disease (STGD1), cone-rod dystrophy (CRD), and retinitis pigmentosa (RP). We employed a recently developed genotyping microarray, the ABCR400-chip, to search for known ABCA4 mutations. In those patients with STGD1 on whom we identified at least one ABCA4 mutation, we performed direct sequencing. This molecular analysis revealed us novel missense, nonsense and splicing mutations. In conclusion, we have shown that the ABCA4 mutation chip is an efficient first screening tool for arSTGD.
Gene Symbol: ABCA4
Disease: Stargardt disease 1
R.Riveiro-Alvarez, M.J. Trujillo, D. Cantalapiedra, E. Vallespin, C. Villaverde, D. Valverde, C. Ayuso
Fundacion Jimenez Diaz, Reyes Catolicos 2, 28040 Madrid, Spain, e-mail: rriveiro@fjd.es, Tel.: +34-91-5504872, Fax: +34-91-5448735
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0537 | 1961 | cGGA-AGA | Gly-Arg |
Comments: Mutations in the ABCA4 gene have been associated with autosomal recessive Stargardt disease (STGD1), cone-rod dystrophy (CRD), and retinitis pigmentosa (RP). We employed a recently developed genotyping microarray, the ABCR400-chip, to search for known ABCA4 mutations. In those patients with STGD1 on whom we identified at least one ABCA4 mutation, we performed direct sequencing. This molecular analysis revealed us novel missense, nonsense and splicing mutations. In conclusion, we have shown that the ABCA4 mutation chip is an efficient first screening tool for arSTGD.
Gene Symbol: ABCA4
Disease: Stargardt disease 1
R.Riveiro-Alvarez, J. Aguirre, M.J. Trujillo, D. Cantalapiedra, E. Vallespin, C. Villaverde, D. Valverde, C. Ayuso
Fundacion Jimenez Diaz, Reyes Catolicos 2, 28040 Madrid, Spain, e-mail: rriveiro@fjd.es, Tel.: +34-91-5504872, Fax: +34-91-5448735
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0538 | 2187 | gCAG-TAG | Gln-Ter |
Comments: Mutations in the ABCA4 gene have been associated with autosomal recessive Stargardt disease (STGD1), cone-rod dystrophy (CRD), and retinitis pigmentosa (RP). We employed a recently developed genotyping microarray, the ABCR400-chip, to search for known ABCA4 mutations. In those patients with STGD1 on whom we identified at least one ABCA4 mutation, we performed direct sequencing. This molecular analysis revealed us novel missense, nonsense and splicing mutations. In conclusion, we have shown that the ABCA4 mutation chip is an efficient first screening tool for arSTGD.
Gene Symbol: TNFSF5
Disease: Hyper-IgM syndrome
L.S. Schleithoff, H.P. Seelig
Institute for Immunology and Molecular Genetics, Kriegsstrasse 99, 76133 Karlsruhe, Germany, e-mail: L.Schleithoff@seelig.de, Tel.: +49- 721-85000176, Fax: +49-721-85000199
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0539 | 167 | GGA-GTA | Gly-Val |
Gene Symbol: CRB1
Disease: Leber congenital amaurosis
E. Vallespin, D. Cantalapiedra, M. Garcia-Hoyos, R. Riveiro, A. Queipo, M.J. Trujillo-Tiebas, C. Ayuso
Department of Genetics, Fundacion Jimenez Diaz, Avd. Reyes Catolicos 2, 28040 Madrid, Spain, e-mail: evallespin@fjd.es, Tel.: +34-91-5504872, Fax: +34-91-5448735
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0540 | 1001 | ATT-AAT | Ile-Asn |
Gene Symbol: CYP1B1
Disease: glaucoma, primary congenital
J.F.F. Brinkmann, C.P.E. Ottenheim, R.H.C. Zegers, P.T.V.M. de Jong, A.A.B. Bergen
Department of Clinical and Molecular Ophthalmogenetics, Division of Development, Aging and Genetic diseases of the eye, The Netherlands Ophthalmic Research Institute, KNAW, Meibergdreef 47, 1105 Amsterdam, The Netherlands. e-mail: J.Brinkmann@ioi.knaw.nl, Tel.: +31-20-5664598, Fax: +31-20-5666121
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0541 | 159 | cCAG-cTAG | Gln-Stop |
Comments: Mutation: c.475C > T, p.Q159X (stop codon), GenBank accession U56438
Gene Symbol: PRSS1
Disease: Pancreatitis, hereditary
L. Schleithoff, H.P. Seelig
Institute for Immunology and Molecular Genetics, Kriegsstrasse 99, 76133 Karlsruhe, Germany, e-mail: L.Schleithoff@seelig.de, Tel.: +49-721-85000176, Fax: +49-721-8500099
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0542 | 98 | cCAA-AAA | Gln-Lys |
Gene Symbol: SLC3A1
Disease: Cystinuria
T. Eggermann, E. Brauers
Institute of Human Genetics, University Hospital RWTH Aachen, Pauwelsstr. 30, 52074 Aachen, Germany, e-mail: teggermann@ukaachen.de, Tel.: +49-241-8088008, Fax: +49-241-8082394
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0543 | 179 | GAT-TAT | Asp-Tyr |
Gene Symbol: CYP1B1
Disease: Primary congenital glaucoma
J. Nirmaladevi, T. Karthiyayini, G. Kumaramanickavel
SNONGC Department of Genetics and Molecular Biology, Sankara Nethralaya, 18 College Road, Chennai, Tamil Nadu 600 006, India, e-mail: nirmal_a2k@yahoo.com, Tel.: +91-44-28271616, Fax: +91-44-28254180
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0544 | 292 | ATG-AAA | Met-Lys |
Comments: Mutated dioxin-inducible cytochrome p450 protein
Gene Symbol: SLC7A9
Disease: Cystinuria
Eva Brauers, Thomas Eggermann
Institute of Human Genetics, Pauwelsstr. 30, 52074 Aachen, Germany, e-mail: evabrauers@gmx.de, Tel.: +49-241-8088008, Fax: +49-241-8082394
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0545 | 73 | GGG-AGG | Gly-Arg |
Gene Symbol: SLC3A1
Disease: Cystinuria
Eva Brauers, Thomas Eggermann
Institute of Human Genetics, Pauwelsstr. 30, 52074 Aachen, Germany, e-mail: evabrauers@gmx.de, Tel.: +49-241-8088008, Fax: +49-241-8082394
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0546 | 562 | GAG-CAG | Glu-Gln |
Comments:
Gene Symbol: SLC3A1
Disease: Cystinuria
Eva Brauers, Thomas Eggermann
Institute of Human Genetics, Pauwelsstr. 30, 52074 Aachen, Germany, e-mail: evabrauers@gmx.de, Tel.: +49-241-8088008, Fax: +49-241-8082394
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0547 | 567 | AGG-AGC | Arg-Ser |
Gene Symbol: RPE65
Disease: Leber’s congenital amaurosis
Mamatha Gandra, Srilekha Sundaramurthy, Govindasamy Kumaramanickavel
ONGC Department of Genetics & Molecular Biology, Vision research foundation, Sankara nethralaya, 18 College road, Nungambakkam, Chennai 600006, India, e-mail: gmamatha5@gmail.com, Tel.: +91-044-28271616, Fax: +91-044-28254180
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0548 | 471 | CCC-CTC | PRO-LEU |
Comments: Pro471Leu mutation has been detected in an Indian LCA patient.
Gene Symbol: MPZ
Disease: Charcot-Marie-Tooth disease
S. Jakubiczka, S. Schulz, P. Wieacker
Department of Human Genetics, Otto-von-Guericke-University, Leipziger Str. 44, 39120 Magdeburg, Germany, e-mail: sibylle.jakubiczka@medizin.uni-magdeburg.de, Tel.: +49-391-6715343, Fax: +49-391-6715066
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0549 | 101 | TGG-TAG | Trp-Term |
Gene Symbol: GJB1
Disease: Charcot-Marie-Tooth disease
S. Jakubiczka, I. Wieland, M. Grieger, P. Wieacker
Department of Human Genetics, Otto-von-Guericke-University, Leipziger Str. 44, 39120 Magdeburg, Germany, e-mail: sibylle.jakubiczka@medizin.uni-magdeburg.de, Tel.: +49-391-6715343, Fax: +49-391-6715066
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0550 | 170 | GTC-GAC | Val-Asp |
Comments: c.509T > A
Gene Symbol: MPZ
Disease: Charcot-Marie-Tooth disease
S. Jakubiczka, I. Wieland, K. Wohlfahrt, N. Niederstrasser, P. Wieacker
Department of Human Genetics, Otto-von-Guericke-University, Leipziger Str. 44, 39120 Magdeburg, Germany, e-mail: sibylle.jakubiczka@medizin.uni-magdeburg.de, Tel.: +49-391-6715343, Fax: +49-391-6715066
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0551 | 144 | CTG-CCG | Leu-Pro |
Comments: c.434T > C
Gene Symbol: SPAST (SPG4)
Disease: Spastic paraparesis
C. Depienne, C. Tallaksen, J.Y. Lephay, B. Bricka, S. Poea-Guyon, B. Fontaine, P. Labauge, A. Brice, A. Durr
INSERM U679, Hôpital de la Salpêtrière, 75013 Paris, France, e-mail: depienne@ccr.jussieu.fr, Tel.: +33-1-42162202, Fax: +33-1-44243658
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0552 | 385 | GGG-TGG | Gly-Trp |
Comments: Sporadic spastic paraplegia
Gene Symbol: SPAST
Disease: Spastic paraparesis
C. Depienne, C. Tallaksen, J.Y. Lephay, B. Bricka, S. Poea-Guyon, B. Fontaine, P. Labauge, A. Brice, A. Durr
INSERM U679, Hôpital de la Salpêtrière, 75013 Paris, France, e-mail: depienne@ccr.jussieu.fr, Tel.: +33-1-42162202, Fax: +33-1-44243658
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0553 | 444 | GAT-GAG | Asp-Glu |
Comments: Sporadic spastic paraplegia
Gene Symbol: SPAST
Disease: Spastic paraparesis
C. Depienne, C. Tallaksen, J.Y. Lephay, B. Bricka, S. Poea-Guyon, B. Fontaine, P. Labauge, A. Brice, A. Durr
INSERM U679, Hôpital de la Salpêtrière, 75013 Paris, France, e-mail: depienne@ccr.jussieu.fr, Tel.: +33-1-42162202, Fax: +33-1-44243658
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0554 | 581 | CGA-TGA | Arg-Stop |
Comments: Sporadic spastic paraplegia
Gene Symbol: SPAST
Disease: Spastic paraparesis
C. Depienne, C. Tallaksen, J.Y. Lephay, B. Bricka, S. Poea-Guyon, B. Fontaine, P. Labauge, A. Brice, A. Durr
INSERM U679, Hôpital de la Salpêtrière, 75013 Paris, France, e-mail: depienne@ccr.jussieu.fr, Tel.: +33-1-42162202, Fax: +33-1-44243658
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0555 | 461 | CTA-CCA | Leu-Pro |
Comments: Sporadic spastic paraplegia
Gene Symbol: SPAST
Disease: Spastic paraparesis
C. Depienne, C. Tallaksen, J.Y. Lephay, B. Bricka, S. Poea-Guyon, B. Fontaine, P. Labauge, A. Brice, A. Durr
INSERM U679, Hôpital de la Salpêtrière, 75013 Paris, France, e-mail: depienne@ccr.jussieu.fr, Tel.: +33-1-42162202, Fax: +33-1-44243658
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0556 | 503 | CGG-TGG | Arg-Trp |
Comments: Sporadic spastic paraplegia
Gene Symbol: SPAST
Disease: Spastic paraparesis
C. Depienne, C. Tallaksen, J.Y. Lephay, B. Bricka, S. Poea-Guyon, B. Fontaine, P. Labauge, A. Brice, A. Durr
INSERM U679, Hôpital de la Salpêtrière, 75013 Paris, France, e-mail: depienne@ccr.jussieu.fr, Tel.: +33-1-42162202, Fax: +33-1-44243658
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0557 | 238 | CCC-ACC | Pro-Thr |
Comments: Sporadic spastic paraplegia
Gene Symbol: AVP
Disease: Diabetes insipidus, neurohypophyseal
A.P. Abbes, H. Engel, E.J.M. Bruggeman, A.A.M. Franken
Isala Klinieken, Locatie Sophia Department of Clinical Chemistry, Dr. C.A. van Heesweg 2, 8025 AB Zwolle, The Netherlands, e-mail: a.p.abbes@isala.nl, Tel.: +31-38-4247188, Fax: +31-38-4247610
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0558 | 65 | cTGC-TTC | Cys-Phe |
Comments: Dutch kindred
Gene Symbol: AVP
Disease: Diabetes insipidus, neurohypophyseal
A.P. Abbes, H. Engel, A.A.M. Franken
Isala Klinieken, Locatie Sophia Department of Clinical Chemistry, Dr. C.A. van Heesweg 2, 8025 AB Zwolle, The Netherlands, e-mail: a.p.abbes@isala.nl, Tel.: +31-38-4247188, Fax: +31-38-4247610
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0559 | 87 | gTCC-gTAC | Ser-Tyr |
Comments: Dutch kindred
Gene Symbol: AVP
Disease: Diabetes insipidus, neurohypophyseal
A.P. Abbes, J.H. Davies, M. Penney, H. Engel, J.W. Gregory
Isala Klinieken, Locatie Sophia Department of Clinical Chemistry, Dr. C.A. van Heesweg 2, 8025 AB Zwolle, The Netherlands, e-mail: a.p.abbes@isala.nl, Tel.: +31-38-4247188, Fax: +31-38-4247610
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0560 | 98 | cTGC-cTCT | Cys-Ser |
Comments: Welsh kindred
Gene Symbol: AVP
Disease: Diabetes insipidus, neurohypophyseal
A.P. Abbes, H. Engel, C. Klomp, E.J.M Bruggeman
Isala Klinieken, Locatie Sophia Department of Clinical Chemistry, Dr. C.A. van Heesweg 2, 8025 AB Zwolle, The Netherlands, e-mail: a.p.abbes@isala.nl, Tel.: +31-38-4247188, Fax: +31-38-4247610
Missense/Nonsense Mutations (single base-pair substitutions) | |||
Accession Number | Codon Number/location | Nucleotide substitution | Amino acid substitution |
Hm0561 | 92 | gTGC-AGC | Cys-Ser |
Comments: French kindred
Gene Symbol: ABCA4
Disease: Stargardt disease 1
R. Riveiro-Alvarez, M.J. Trujillo, D. Cantalapiedra, E. Vallespin, C. Villaverde, D. Valverde, C. Ayuso
Fundacion Jimenez Diaz, Reyes Catolicos 2, 28040 Madrid, Spain, e-mail: rriveiro@fjd.es, Tel.: +34-91-5504872, Fax: +34-91-5448735
Splicing Mutations (single base-pair substitutions) | ||||
Accession Number | Intron designation | Donor/acceptor | Relative location | Nucleotide substitution |
Hs0512 | 22 | Donor | -2 | A-T |
Comments: Mutations in the ABCA4 gene have been associated with autosomal recessive Stargardt disease (STGD1), cone-rod dystrophy (CRD), and retinitis pigmentosa (RP). We employed a recently developed genotyping microarray, the ABCR400-chip, to search for known ABCA4 mutations. In those patients with STGD1 on whom we identified at least one ABCA4 mutation, we performed direct sequencing. This molecular analysis revealed us novel missense, nonsense and splicing mutations. In conclusion, we have shown that the ABCA4 mutation chip is an efficient first screening tool for arSTGD.
Gene Symbol: PRPF31
Disease: Retinitis pigmentosa
Mamatha Gandra, Sreelekha Sundaramurthy, Govindasamy Kumaramanickavel
No 18 College road, Vision Research Foundation, Sankara Nethralaya, Nungambakkam, Chennai, Tamil nadu, India, e-mail: gmamatha5@rediffmail.com, Tel.: +91-44-28271616, Fax: +91-44-28254180
Splicing Mutations (single base-pair substitutions) | ||||
Accession Number | Intron designation | Donor/acceptor | Relative location | Nucleotide substitution |
Hs0513 | 6 | Donor | G-A |
Comments: G/A substitution at +1 of Intron6
Gene Symbol: PRPF31
Disease: Retinitis pigmentosa
Mamatha Gandra, Sreelekha Sundaramurthy, Govindasamy Kumaramanickavel
SNONGC Department of Genetics & Molecular Biology, Vision Reserach Foundation, Sankara Nethralaya, 18 College road, Nungambakkam, Chennai, Tamilnadu 600006, India, e-mail: gmamatha5@rediffmail.com, Tel.: +91-44-28271616, Fax: +91-44-28254180
Splicing Mutations (single base-pair substitutions) | ||||
Accession Number | Intron designation | Donor/acceptor | Relative location | Nucleotide substitution |
Hs0514 | 6 | Donor | G-A |
Comments: G/A +1Intron6, A splicing mutation found in an Indian autosomal dominant retinitis pigmentosa family
Gene Symbol: SPAST
Disease: spastic paraparesis
C. Depienne, C. Tallaksen, J.Y. Lephay, B. Bricka, S. Poea-Guyon, B. Fontaine, P. Labauge, A. Brice, A. Durr
INSERM U679, Hôpital de la Salpêtrière, 75013 Paris, France, e-mail: depienne@ccr.jussieu.fr, Tel.: +33-1-42162202, Fax: +33-1-44243658
Splicing Mutations (single base-pair substitutions) | ||||
Accession Number | Intron designation | Donor/acceptor | Relative location | Nucleotide substitution |
Hs0515 | Intron 1 | Donor | +1 | G-A |
Comments: Sporadic spastic paraplegia
Gene Symbol: SPAST
Disease: Spastic paraparesis
C. Depienne, C. Tallaksen, J.Y. Lephay, B. Bricka, S. Poea-Guyon, B. Fontaine, P. Labauge, A. Brice, A. Durr
INSERM U679, Hôpital de la Salpêtrière, 75013 Paris, France, e-mail: depienne@ccr.jussieu.fr, Tel.: +33-1-42162202, Fax: +33-1-44243658
Splicing Mutations (single base-pair substitutions) | ||||
Accession Number | Intron designation | Donor/acceptor | Relative location | Nucleotide substitution |
Hs0516 | Intron 1 | Donor | +1 | G-T |
Comments: Sporadic spastic paraplegia
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Lewis, P.D. Novel human pathological mutations . Hum Genet 118, 774–785 (2006). https://doi.org/10.1007/s00439-005-0109-6
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DOI: https://doi.org/10.1007/s00439-005-0109-6