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High contrast layout with larger text. Worldwide, glaucoma is the leading irreversible cause for blindness. Primary open angle glaucoma (POAG) is the most common subset and by the year 2020 it is estimated that approximately 60 million people will be affected [1]. In 1997 Stone and colleagues identified mutations in the. Gene (OMIM: 601652; formerly:. Trabecular meshwork-induced glucocorticoid response. In families affected by autosomal dominant POAG [2]. Subsequent work has revealed that mutations in.

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Myocilin.com | Myocilin allele-specific phenotype database | Home | myocilin.com Reviews

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High contrast layout with larger text. Worldwide, glaucoma is the leading irreversible cause for blindness. Primary open angle glaucoma (POAG) is the most common subset and by the year 2020 it is estimated that approximately 60 million people will be affected [1]. In 1997 Stone and colleagues identified mutations in the. Gene (OMIM: 601652; formerly:. Trabecular meshwork-induced glucocorticoid response. In families affected by autosomal dominant POAG [2]. Subsequent work has revealed that mutations in.

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Myocilin.com | Myocilin allele-specific phenotype database | Home | myocilin.com Reviews

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High contrast layout with larger text. Worldwide, glaucoma is the leading irreversible cause for blindness. Primary open angle glaucoma (POAG) is the most common subset and by the year 2020 it is estimated that approximately 60 million people will be affected [1]. In 1997 Stone and colleagues identified mutations in the. Gene (OMIM: 601652; formerly:. Trabecular meshwork-induced glucocorticoid response. In families affected by autosomal dominant POAG [2]. Subsequent work has revealed that mutations in.

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Myocilin.com | Myocilin allele-specific phenotype database | Contact

http://www.myocilin.com/contributors.php

High contrast layout with larger text. Phenotype and mutation data has been compiled from the published literature. The source of unpublished submissions can be identified by the listing of contributing individuals or research groups and their respective institutional address. Correspondence regarding this website should be addressed to:. Dr Alex Hewitt or Prof Jamie Craig. Wwwmyocilin.com is produced and technologically enabled by Millipede Creative Development Pty Ltd.

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Myocilin.com | Myocilin allele-specific phenotype database | Genomic Information

http://www.myocilin.com/genomicinfo.php

High contrast layout with larger text. Emsp;∧∧∧ Myocilin protein homology. Emsp;∧∧∧ Myocilin cross species homology. Enter a codon number (1-504):. Annotated sequence from www.ensembl.org. Gene number E NSG00000034971). Nucleotide sequence renumbered to conform to Nomenclature Working Group guidelines. Protein sequences were obtained from the protein knowledgebase Swiss-Prot. And the Basic Local Alignment Search Tool (BLAST) of the US National Center for Biotechnology Information website.

3

Myocilin.com | Myocilin allele-specific phenotype database | Submit Variant

http://www.myocilin.com/submissions.php

High contrast layout with larger text. Genotype- Phenotype Data Submission System. Please enter your name, institution and contact details. The myocilin.com allele specific phenotype database was last updated on 2016-08-09.

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Myocilin.com | Myocilin allele-specific phenotype database | Summary Statistics

http://www.myocilin.com/summarystats.php

High contrast layout with larger text. Summary by likely disease-causing variants. This table classifies all disease-causing mutations by type. Proportion of identified mutations. Small deletion ( 21bp). Small indel ( 21bp). Small insertion ( 21bp). Complex rearrangement including inversions. Gross deletion ( 20bp). Gross insertion and duplication ( 20bp). Non-coding region nucleotide substitution. Frequency and location of mutations.

5

Myocilin.com | Myocilin allele-specific phenotype database | Variants

http://www.myocilin.com/variants.php

High contrast layout with larger text. This database contains 190 citations and 277 variants. Use the ideogram above to navigate to specific exon and intron regions located in the table below. Click the individual variants to view allele specific information pertaining to the variant. Criteria for identification of pathogenic mutations. In assigning pathogenic status to a given variant the following issues were taken into consideration:. Evidence for partial segregation with the phenotype within a family.

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Myocilin.com | Myocilin allele-specific phenotype database | Home

High contrast layout with larger text. Worldwide, glaucoma is the leading irreversible cause for blindness. Primary open angle glaucoma (POAG) is the most common subset and by the year 2020 it is estimated that approximately 60 million people will be affected [1]. In 1997 Stone and colleagues identified mutations in the. Gene (OMIM: 601652; formerly:. Trabecular meshwork-induced glucocorticoid response. In families affected by autosomal dominant POAG [2]. Subsequent work has revealed that mutations in.

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