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Unpublished Variant 20021231012

This is a record of an observed human mtDNA variant submitted to MITOMAP

  • Submitters may return to this page at any time to update the information. Submitters who wish to amend a record submitted before November 2009 must register and send an email to mitomap@email.chop.edu to obtain editing privileges on the page.
  • Submitted by: Dhananjaya Saranath
  • MITOMAP list of submitted variants
  • MITOMASTER allele analysis

Citing this variant:
Schuelke, Markus; Krude, H; Finckh, B; Mayatepek, E; Janssen, A; Trefz, F; Trijbels, F; Smeitink, J 2003. MITOMAP mtDNA Sequence Data, https://mitomaster.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20021231012

VariantSubmissionForm edit

LastName Schuelke
FirstName Markus
Email markus.schuelke@charite.de
OrganizationName Department of Neuropediatrics
Country Germany
Address Humboldt University,%Charite, Virchow University Hospital%Augustenburger Platz 1%D-13353 Berlin
PILastName Schuelke
PIFirstName Markus
PIEmail markus.schuelke@charite.de
OtherContributor Krude, H; Finckh, B; Mayatepek, E; Janssen, A; Trefz, F; Trijbels, F; Smeitink, J
PolymorphismPosition 14849
Polymorphism C
AlleleType polymorphism
NAChange T-C
AAChange S-P
Locus MT-CYB
Detection automated
SampleID 1.2ack
Tissue muscle
Phenotype Septo-optic Dysplasia
Ethnicity Caucasian
Origin Germany
Haplogroup -
Comment The mutation has been published in: Schuelke M, Krude H, Finckh B, Mayatepek E, Janssen A, Schmelz M, Trefz F, Trijbels F, Smeitink J. Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation.Ann Neurol. 2002 Mar;51(3):388-92. PMID: 11891837
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Topic revision: r1 - 26 Nov 2012, UnknownUser
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