Analyses
of Splicing Mutations Found in Locus-specific Mutation Databases
based on Information Content.
| Gene | Description |
| COL1A1 | Collagen I type alpha 1 gene. |
| COL1A2 | Collagen I type alpha II gene. |
| COL3A1 | Collagen III type alpha 1 gene |
| PAH | Phenylalanine hydroxylase (PAH) gene. |
| CYP3A4 | Mutational Analysis of CYP3A4 gene. |
| CYP5A1 | Mutational Analysis of CYP5A1 gene. |
| CYP2D6 | Mutational Analysis of CYP2D6 gene. |
| CYP2B6 | Mutational Analysis of CYP2B6 gene. |
| The below listed mutations are downloaded from Wiley Interscience | |
| DHCR7 | Mutations in the DHCR7 Gene in Patients With Smith-Lemli-Opitz Syndrome. |
| USH1C | Mutations of the USH1C Gene. |
| DTD | Mutations of the DTD ( Human sulfate transporter) Gene. |
| RPGR | Mutations of the Human retinitis pigmentosa GTPase regulator (RPGR) Gene |
| Spast | Mutations of the Spast Gene. |
| MECP2 | Mutations of the MECP2 Gene. |
| BRCA2 | Mutations of the BRCA2 ( Human breast cancer susceptibility ) Gene. |
| UROD | Mutations in the Uroporphyrinogen Decarboxylase (UROD) Gene in Patients With Familial Porphyria Cutanea Tarda (f-PCT). |
| ROR2 | ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. |
| CTNS | Mutations and Characterization of Seven Splice Site CTNS Mutations Associated With Cystinosis Vasiliki Kalatzis. |
| LIS1 | Mutations in the LIS1 Gene (PAFAH1B1). |
| F8C | Mutations in the Human coagulation factor VIII:C. |
| MTM1 | Characterization of Mutations in Fifty North American Patients With X-linked Myotubular Myopathy |
| KCNQ1 | DHPLC Analysis of Potassium Ion Channel Genes in Congenital Long QT Syndrome (KvLQT1) |
| AGL | Molecular Characterisation of GSD III Subjects and Identification of Six Novel Mutations in AGL. |
| OTC | Intragenic Polymorphisms and Haplotype Analysis in the Ornithine Transcarbamylase (OTC) Gene and Their Relevance For Tracking the Inheritance of OTC Deficiency Consuelo Climent and Vicente Rubio. |
| COX1 | Cyclooxygenase 1 (COX1) Polymorphisms in African-American and Caucasian Populations |
| MECP2 | Mutations in Israel: Implications for Molecular Analysis, Genetic Counseling, and Prenatal Diagnosis in Rett Syndrome |
| FBN1 | Mutations of FBN1 and Genotype Phenotype Correlations in Marfan Syndrome and Related Fibrillinopathies |
| CHM | Mutational Analysis of Patients With the Diagnosis of Choroideremia |
| NF1 | Mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects | WFS1 | Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease |
(Additional gene analyses will be posted as time permits.)
October 1, 2003
V.Kumar Nalla and P.Rogan
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