Home | Contact Us | Site Map | Français
Enhancing the lives and outcomes
of Canadian individuals and families
affected by Barth syndrome."

naltrexone

naltrexone low dose marcelosincic.com.br

Human Tafazzin (TAZ) Gene Mutation & Variation Database

This database includes mutations and variants even when they are repeated. However, they must be present in unrelated families. The aim is to provide information to physicians as to whether or not a mutation found in a patient has been seen before in other affected individuals. The database is also used by researchers. Mutations and variants listed come from the literature, from direct submission by laboratories, and from direct submission by affected families. Pathogenicity of many of the mutations is confirmed by monolysocardiolipin/cardiolipin assay; mRNA study has characterized some of the splicing variants; large evolutionary alignments provide information about amino acid conservation; family information regarding de novo mutations is included; the functional effects of human TAZ mutations modeled in yeast are included. There are links to the PubMed abstracts of references.

 

 

 

 

Please provide the following information for adding your mutation(s) to the Table:

 

 

  • Use reference sequence NM_000116 (11 exons).
  • Mutation position, counting from AUG in the mRNA:  Specific nucleotide change (substitution, deletion, insertion). F.ex., c.51G>A, or c.52_54delCC, or c.157dupC.
  • Mutation effect at protein level (f.ex.:  p.Gly197Arg, or p.Tyr51*, or p.Leu53Argfs*79). Please use 3 letter abbreviation for amino acids to prevent confusion with nucleotides.
  • If a splice mutation, indicate the position in the intron counting from nearest exon. F.ex., c.110-2A>G.
  • How do we cite your contribution in the Reference/attribution list? F.ex., Direct submission, Jane Doe, Ph.D., Hospital/Laboratory name. If the case has been published, please provide us with the literature citation and how the subject is identified in the citation (f.ex., case #3, or case JL).
  • If you know that the mutation is de novo, please state so. Also include, if you know in whom the mutation originated (mother, grandmother, grandfather).
  • If you have tested cardiolipin/MLCL levels, please tell us the result so it can be included in the proper column (column F).
  • Any supporting information? mRNA, familial segregation, etc.
  • If you have found variants in other relevant genes, please add this information as there is a separate column for these in the database (column J). F.ex., variant in MYH7, in DMD, etc.
  • If you have found any benign variants, please also tell us about it to add them to the appropriate section at the end of the database.

 

Please send this information to:

 Iris L. Gonzalez, PhD

Senior Research Scientist (retired), Molecular Diagnostics Laboratory, A. I. duPont Hospital for Children, Wilmington, DE.

Privacy and Disclaimer

Barth Syndrome Foundation of Canada does not endorse any drugs, tests, or treatments that we may report.

This website is for informational purposes, always check with your physician before adopting any medical treatment.

Registered Charity Number:
86102 2002 RR0001

© Barth Syndrome Foundation. All rights reserved.
Web Design by Pixelera