Human Tafazzin (TAZ) Gene Mutation & Variation Database
Human Tafazzin (TAZ) Gene Mutation and Variation Database Submission:
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.
Human Tafazzin (TAZ) Gene Mutation and Variation Database
(Last updated June 11, 2013)
RNA sequence and amino acid sequence
Online Mendelian Inheritance in Man (OMIM)
Please provide the following information for adding your mutation(s) to the Table:
- Mutation position, counting from AUG in the mRNA; state specific exon or intron.
- Specific nucleotide change (e.g., substitution, deletion, insertion). e.g., A -> G, or +CCTC, or delT.
- Mutation effect at protein level (e.g..: gly197arg, or tyr51STOP, or delC, -1 frameshift). The number is the codon number. 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. e.g., intron 1, 110-2, AG -> TG (where 110 is the first nucleotide of exon 2).
- How do we cite your contribution in the Reference/attribution list? e.g., 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 (e.g., case #3, or case JL).
- Mutation detection method (DNA level, mRNA level, is it nucleotide sequencing?)
- 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 or MLCL levels, please tell us the result so it can be included in the proper column.
- If you have carried out controls, particularly for exons 1, 5, and 11, please tell us about it, including the number of X chromosomes studied.
- If you have found any polymorphisms, please also tell us about it to add them to the list. Mention if specific controls have been carried out.
Please send this information to:
Iris L. Gonzalez, PhD, Senior Research Scientist (retired), Molecular Diagnostics Laboratory, A. I. duPont Hospital for Children, Wilmington, DE.