Laboratory of  Human Molecular Genetics
Children's Mercy Hospitals and Clinics
University of Missouri-Kansas City

Automated Splice site analysis

        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  Muational Analysis of CYP5A1 gene.
CYP2D6  Muational Analysis of CYP2D6 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

(Additional gene analyses will be posted soon.)

August 26, 2003
V.Kumar Nalla and P.Rogan