Feedback
Enter your feedback in the box below. Please attach any relevant files, such as mtDNA sequences that cause errors when submitted to MITOMASTER.
There is a polymorphism listed on your site as T-TC at 3308, with a reference of Achilli 2008, pubMed 18335039. I believe this should be listed as T-AC:
From the publication: "An extremely interesting case of a mutational motif marking a Native American branch of the mtDNA phylogeny is represented by the T3308A transversion with a subsequent insertion of one C (3308+C) that characterize haplogroup A2i."
AACAACA TACCCATG CRS
AACAACAACACCCATG From Genbank accession EU431080.2.
--
JanetCarr - 02 Nov 2011
Until MITOMASTER is up and running again, one can use HaploGrep (
http://haplogrep.uibk.ac.at/) for the calculation of haplogroups from given polymorphsims - mtSNPs. It is based on the latest version of Phylotree (www.phylotree.org)
--
JohnnyWhitestone - 28 Sep 2011
Re the table in
http://www.mitomap.org/bin/view.pl/MITOMAP/MutationsRNA
As I understand it, the entry for A1491G ("MT-RNR1 DEAF A1491G=A1555G 12S rRNA . . See 1555G references") should be omitted, since this, as mentioned in the original paper, refers to a position in E.coli 16s rRNA, NOT human mtDNA.
Biochemical Evidence for Nuclear Gene Involvement in Phenotype of Non-Syndromic Deafness Associated with Mitochondrial 12S rRNA Mutation
Min-Xin Guan, Nathan Fischel-Ghodsian andGiuseppe Attardi
http://hmg.oxfordjournals.org/content/5/7/963.long
--
RichardThrift - 28 Sep 2011
People with mtDNA data from 23andMe will be interested in medical implications of their data. There are thousands of 23andMe customers, and many will no doubt be curious. But 23andMe still uses the Yoruba reference, not CRS. Would it be possible to ADD a column to these pages:
http://www.mitomap.org/bin/view.pl/MITOMAP/MutationsRNA
http://www.mitomap.org/bin/view.pl/MITOMAP/MutationsCodingControl
http://www.mitomap.org/bin/view.pl/MITOMAP/ClinicalPhenotypesRNA
http://www.mitomap.org/bin/view.pl/MITOMAP/ClinicalPhenotypesPolypeptide
http://www.mitomap.org/bin/view.pl/MITOMAP/MutationsLHON
showing the Yoruba position, to make the tables usable directly by 23andMe customers?
Thanks
Richard Thrift
--
RichardThrift - 25 Sep 2011
Does anyone have an email address for Marty Brandon? uci.edu is bouncing
mbrandon@uci.edu
--
JohnElling - 14 Jul 2011
An allele search for 14674 shows m.14674T>C under both polymorphisms and confirmed mutations. The mutation report in Brain 2009, 132: 3165 should be cited. Listing this variant as a polymorphism is inviting misclassification in patient reporting.
Thanks,
Eric Schmitt
--
EricSchmitt - 09 Jun 2011
I was wondering if the diagnostic SNP for J should be at location 13708 instead of 13078. I noticed this while using your table Diagnostic SNP table for my masters thesis. None of my sequences had a Guanine or Adenine at that (13078) location. However, location 13708 has many sequences with both Guanine and Adenine. This SNP also seems to correctly match the phylogenetic tree I generated.
Thanks,
Melissa
--
MelissaRuda - 04 Nov 2010
When will haplogroup function be restored to MitoMaster?
Mark
--
MarquisVawter - 24 Sep 2010
Do the 2 lists of nuclear genes involved in mitochondrial disease (structural genes and non-structural genes at the bottom of the home page) include ALL genes involved in mitochondrial disease?
If not, where can I find a complete list of all these genes?
Thank you,
Nathalie.
--
NathalieAbitbol - 14 Sep 2010
I would like to search all haplotypes for a specific change. Is this possible?
we often pick up changes in our patients and never know if then are snp's or not.
If where can I find all the possible haplotype changes listed together
Thanks
tricia
--
TriciaOwen - 25 Mar 2010
It seems that the Cytb region is incorrectly assigned.
In NCBI, the region includes 14748~15882. In this program, it refers 14747~15887.
--
MinShengPeng - 18 Jun 2009
I have a perfectly reasonable H haplogroup sequence that MITOMASTER insists on classifying as B2B. Other sequences a few bp different classify correctly
--
StevenMCarr - 18 Nov 2008
It will be a good idea to have capability of searching short mtDNA fragments (such as HV1 and HV2 regions) in Mitomaster.
Thanks
Dr. Amarjit Chahal
chahala@molecularworldinc.com
--
AmarjitChahal - 20 Oct 2008