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Disease.
MUTATIONSRNA < MITOMAP < FOSWIKI MITOMAP: Reported Mitochondrial DNA Base Substitution Diseases: rRNA/tRNA mutations . Last Edited: Jun 02, 2021. The GB frequency data in Mitomap is derived from 51836 GenBank sequences with size greater than 15.4kbp and 74866 Control Region sequences with size 0.4-1.6kbp. These sequences have been pre-loaded into Mitomaster and represent almost all haplogroups known HUMANMITOCODE < MITOMAP < FOSWIKI Note that, unlike the universal code, UGA codes for tryptophan instead of termination and AUA codes for methionine instead of isoleucine. *AUU codes for isoleucine during elongation but can code for methionine for initiation See Fearnley & Walker (1987) and Peabody (1989). **GUG has been reported as a functional initiation codon See Dubot et al (2004) below. GBFREQINFO < MITOMAP < FOSWIKI GenBank Frequency Information . The current GenBank frequency data in our variant tables is derived from 51,836 human mitochondrial DNA sequences with size greater than 15.4 kbp . The sequences were collected from GenBank on Jan 15, 2021, aligned to rCRS using BLASTn and haplotyped using Haplogrep via the Mitomaster web service.A list of the sequence IDs in the current GenBank set POLG PATHOGENICITY PREDICTION SERVER Residue and mutation information. Browse by residue. Browse patient data. Browse by reference. Putatively dominant POLG mutations. Putatively non-pathogenic SNPs. Pathogenic cluster definitions. CLINICALPHENOTYPES1 < MITOMAP < FOSWIKI Syndromes: Locus: Disease*: Allele: Nucleotide Change: AA Change: Ho : He : Status**: References: Dystonia: MTND1: Adult-Onset Dystonia: A3796G: A-G: T164A-+ Prov MUTATIONSCODINGCONTROL < MITOMAP < FOSWIKI Last Edited: May 04, 2021 The GB frequency data in Mitomap is derived from 51836 GenBank sequences with size greater than 15.4kbp and 74866 Control Region sequences with size 0.4-1.6kbp. These sequences have been pre-loaded into Mitomaster and represent almost all haplogroups known to date. We will be updating and refining this set of sequences MITOMASTER CONSERVATION SPECIES Selected species are used for the conservation index calculation in genes, tRNAs, and rRNAs. You may select/deselect any species. Note that if no species are selected, no conservation SEARCHALLELE < MAIN < FOSWIKI Enter a single nucleotide position in the Start box or use both Start and End boxes to enter a range (up to 101 bps). Values must be positive integers from 1 to 16569. Start: End: EDUARDO'S PHYLOGENETIC TREE l1 5581 1(a9l2a)4(233) 62(565) 731(12) 7521(d) 4(223) 3495a(nd1) 8790(atp6) 12630(nd5) 1282(12) 13810(a492tnd5) 4(389) 8541(atp6c59yatp8) 14599(nd6) 4655(nd2) WEBHOME < MITOMAP < FOSWIKIFOSWIKIMITOMAP WEBUNKNOWNUSERPSEUDOGENELISTLHON MUTATIONSPOLG SERVER MITOMAPA human mitochondrial genome database. MITOMAP. A human mitochondrial genome database. A compendium of polymorphisms and mutations in human mitochondrial DNA. MITOMAP reports published data on human mitochondrial DNA variation. If you would like to add a paper and its data into MITOMAP, please email a pdf to mitomap@email.chop.edu. POLG PATHOGENICITY PREDICTION SERVER Patient Database and Pathogenic Clusters. Pathogenic POLG mutations cluster into five distinct regions (clusters 1-5) of the three-dimensional structure of the enzyme, whereas they are distributed throughout the primary amino acid sequence. The compound heterozygous nature of the majority of POLG syndromes, combined with possible unidentified contributing genetic and/ or environmental HUMANMITOSEQ < MITOMAP < FOSWIKI Revised Cambridge Reference Sequence (rCRS) of the Human Mitochondrial DNA. The rCRS sequence is a fully corrected version of the original Cambridge Reference Sequence. The rCRS is GenBank sequence NC_012920 gi:251831106 Get the more information about the rCRS and download the rCRS plus other complete mtDNA reference sequences at GenBank here . MITOMASTER SEQUENCE QUERY Step 2Option 1. Fasta file use this for sequences in a file of fasta format. Please note that each sequence may take over a second to process. Select file. Change ×. MITOSEQS < MITOMAP < FOSWIKI The rCRS is available as sequence number NC_012920 (formerly AC_000021.2) in GenBank's RefSeq database. This specific rCRS is the most commonly used and standard comparison sequence for human mtDNA research. It is 16569 bp in length, which includes one spacer at position 3107 to preserve the historical CRS position numbering. POLG PATHOGENICITY PREDICTION SERVER Residue and mutation information. Browse by residue. Browse patient data. Browse by reference. Putatively dominant POLG mutations. Putatively non-pathogenic SNPs. Pathogenic cluster definitions. TOPVARIANTS < MITOMAP < FOSWIKI Most Frequent Variants in Mitomap ("Top 40") There are twelve variants with ≥50% overall frequency that are widespread across all lineages. These are shown in bold. TABLE 1. Variants present at ≥80% in lineages L, M, or N are in yellow. Variants present at ≥50% are in light blue. Lineage L ("African"): L0, L1, L2, L3, L4, L5, L6. MITOTIPINFO < MITOMAP < FOSWIKI New Additional Features. MitoTIP sub-scoring details may be found on the details page for each tRNA variant. The MitoTIP percentile score provides the link to the details page. For example, in the screenshot below, clicking on the percentile score of 22.5% CONFIRMEDMUTATIONS < MITOMAP < FOSWIKI Mitomap's Confirmed Pathogenic Mutations. The data are derived from 51836 GenBank sequences with size greater than 15.4kbp and 74866 Control Region sequences with size 0.4-1.6k bp. These sequences have been pre-loaded into Mitomaster SEARCHALLELE < MAIN < FOSWIKI Enter a single nucleotide position in the Start box or use both Start and End boxes to enter a range (up to 101 bps). Values must be positive integers from 1 to 16569. Start: End: WEBHOME < MITOMAP < FOSWIKIFOSWIKIMITOMAP WEBUNKNOWNUSERPSEUDOGENELISTLHON MUTATIONSPOLG SERVER MITOMAPA human mitochondrial genome database. MITOMAP. A human mitochondrial genome database. A compendium of polymorphisms and mutations in human mitochondrial DNA. MITOMAP reports published data on human mitochondrial DNA variation. If you would like to add a paper and its data into MITOMAP, please email a pdf to mitomap@email.chop.edu. POLG PATHOGENICITY PREDICTION SERVER Patient Database and Pathogenic Clusters. Pathogenic POLG mutations cluster into five distinct regions (clusters 1-5) of the three-dimensional structure of the enzyme, whereas they are distributed throughout the primary amino acid sequence. The compound heterozygous nature of the majority of POLG syndromes, combined with possible unidentified contributing genetic and/ or environmental HUMANMITOSEQ < MITOMAP < FOSWIKI Revised Cambridge Reference Sequence (rCRS) of the Human Mitochondrial DNA. The rCRS sequence is a fully corrected version of the original Cambridge Reference Sequence. The rCRS is GenBank sequence NC_012920 gi:251831106 Get the more information about the rCRS and download the rCRS plus other complete mtDNA reference sequences at GenBank here . MITOMASTER SEQUENCE QUERY Step 2Option 1. Fasta file use this for sequences in a file of fasta format. Please note that each sequence may take over a second to process. Select file. Change ×. MITOSEQS < MITOMAP < FOSWIKI The rCRS is available as sequence number NC_012920 (formerly AC_000021.2) in GenBank's RefSeq database. This specific rCRS is the most commonly used and standard comparison sequence for human mtDNA research. It is 16569 bp in length, which includes one spacer at position 3107 to preserve the historical CRS position numbering. POLG PATHOGENICITY PREDICTION SERVER Residue and mutation information. Browse by residue. Browse patient data. Browse by reference. Putatively dominant POLG mutations. Putatively non-pathogenic SNPs. Pathogenic cluster definitions. TOPVARIANTS < MITOMAP < FOSWIKI Most Frequent Variants in Mitomap ("Top 40") There are twelve variants with ≥50% overall frequency that are widespread across all lineages. These are shown in bold. TABLE 1. Variants present at ≥80% in lineages L, M, or N are in yellow. Variants present at ≥50% are in light blue. Lineage L ("African"): L0, L1, L2, L3, L4, L5, L6. MITOTIPINFO < MITOMAP < FOSWIKI New Additional Features. MitoTIP sub-scoring details may be found on the details page for each tRNA variant. The MitoTIP percentile score provides the link to the details page. For example, in the screenshot below, clicking on the percentile score of 22.5% CONFIRMEDMUTATIONS < MITOMAP < FOSWIKI Mitomap's Confirmed Pathogenic Mutations. The data are derived from 51836 GenBank sequences with size greater than 15.4kbp and 74866 Control Region sequences with size 0.4-1.6k bp. These sequences have been pre-loaded into Mitomaster SEARCHALLELE < MAIN < FOSWIKI Enter a single nucleotide position in the Start box or use both Start and End boxes to enter a range (up to 101 bps). Values must be positive integers from 1 to 16569. Start: End: DISEASELIST < MITOMAP < FOSWIKI MMC: Maternal Myopathy and Cardiomyopathy. Multisystem Mitochondrial Disorder (myopathy, encephalopathy, blindness, hearing loss, peripheral neuropathy) NAION: Nonarteritic Anterior Ischemic Optic Neuropathy. NARP : Neurogenic muscle weakness, Ataxia, and Retinitis Pigmentosa; alternate phenotype at this locus is reported as LeighDisease.
MUTATIONSRNA < MITOMAP < FOSWIKI MITOMAP: Reported Mitochondrial DNA Base Substitution Diseases: rRNA/tRNA mutations . Last Edited: Jun 02, 2021. The GB frequency data in Mitomap is derived from 51836 GenBank sequences with size greater than 15.4kbp and 74866 Control Region sequences with size 0.4-1.6kbp. These sequences have been pre-loaded into Mitomaster and represent almost all haplogroups known GBFREQINFO < MITOMAP < FOSWIKI GenBank Frequency Information . The current GenBank frequency data in our variant tables is derived from 51,836 human mitochondrial DNA sequences with size greater than 15.4 kbp . The sequences were collected from GenBank on Jan 15, 2021, aligned to rCRS using BLASTn and haplotyped using Haplogrep via the Mitomaster web service.A list of the sequence IDs in the current GenBank set POLG PATHOGENICITY PREDICTION SERVER Residue and mutation information. Browse by residue. Browse patient data. Browse by reference. Putatively dominant POLG mutations. Putatively non-pathogenic SNPs. Pathogenic cluster definitions. HUMANMITOCODE < MITOMAP < FOSWIKI Note that, unlike the universal code, UGA codes for tryptophan instead of termination and AUA codes for methionine instead of isoleucine. *AUU codes for isoleucine during elongation but can code for methionine for initiation See Fearnley & Walker (1987) and Peabody (1989). **GUG has been reported as a functional initiation codon See Dubot et al (2004) below. CLINICALPHENOTYPES1 < MITOMAP < FOSWIKI Syndromes: Locus: Disease*: Allele: Nucleotide Change: AA Change: Ho : He : Status**: References: Dystonia: MTND1: Adult-Onset Dystonia: A3796G: A-G: T164A-+ Prov MITOMASTER CONSERVATION SPECIES Selected species are used for the conservation index calculation in genes, tRNAs, and rRNAs. You may select/deselect any species. Note that if no species are selected, no conservation MUTATIONSCODINGCONTROL < MITOMAP < FOSWIKI Last Edited: May 04, 2021 The GB frequency data in Mitomap is derived from 51836 GenBank sequences with size greater than 15.4kbp and 74866 Control Region sequences with size 0.4-1.6kbp. These sequences have been pre-loaded into Mitomaster and represent almost all haplogroups known to date. We will be updating and refining this set of sequences SEARCHALLELE < MAIN < FOSWIKI Enter a single nucleotide position in the Start box or use both Start and End boxes to enter a range (up to 101 bps). Values must be positive integers from 1 to 16569. Start: End: EDUARDO'S PHYLOGENETIC TREE l1 5581 1(a9l2a)4(233) 62(565) 731(12) 7521(d) 4(223) 3495a(nd1) 8790(atp6) 12630(nd5) 1282(12) 13810(a492tnd5) 4(389) 8541(atp6c59yatp8) 14599(nd6) 4655(nd2) WEBHOME < MITOMAP < FOSWIKIFOSWIKIMITOMAP WEBUNKNOWNUSERPSEUDOGENELISTLHON MUTATIONSPOLG SERVER MITOMAPA human mitochondrial genome database. MITOMAP. A human mitochondrial genome database. A compendium of polymorphisms and mutations in human mitochondrial DNA. MITOMAP reports published data on human mitochondrial DNA variation. If you would like to add a paper and its data into MITOMAP, please email a pdf to mitomap@email.chop.edu. HUMANMITOSEQ < MITOMAP < FOSWIKI Revised Cambridge Reference Sequence (rCRS) of the Human Mitochondrial DNA. The rCRS sequence is a fully corrected version of the original Cambridge Reference Sequence. The rCRS is GenBank sequence NC_012920 gi:251831106 Get the more information about the rCRS and download the rCRS plus other complete mtDNA reference sequences at GenBank here . POLG PATHOGENICITY PREDICTION SERVER Patient Database and Pathogenic Clusters. Pathogenic POLG mutations cluster into five distinct regions (clusters 1-5) of the three-dimensional structure of the enzyme, whereas they are distributed throughout the primary amino acid sequence. The compound heterozygous nature of the majority of POLG syndromes, combined with possible unidentified contributing genetic and/ or environmental MITOSEQS < MITOMAP < FOSWIKI The rCRS is available as sequence number NC_012920 (formerly AC_000021.2) in GenBank's RefSeq database. This specific rCRS is the most commonly used and standard comparison sequence for human mtDNA research. It is 16569 bp in length, which includes one spacer at position 3107 to preserve the historical CRS position numbering. MITOMASTER SEQUENCE QUERY Step 2Option 1. Fasta file use this for sequences in a file of fasta format. Please note that each sequence may take over a second to process. Select file. Change ×. MITOTIPINFO < MITOMAP < FOSWIKI New Additional Features. MitoTIP sub-scoring details may be found on the details page for each tRNA variant. The MitoTIP percentile score provides the link to the details page. For example, in the screenshot below, clicking on the percentile score of 22.5% TOPVARIANTS < MITOMAP < FOSWIKI Most Frequent Variants in Mitomap ("Top 40") There are twelve variants with ≥50% overall frequency that are widespread across all lineages. These are shown in bold. TABLE 1. Variants present at ≥80% in lineages L, M, or N are in yellow. Variants present at ≥50% are in light blue. Lineage L ("African"): L0, L1, L2, L3, L4, L5, L6. CONFIRMEDMUTATIONS < MITOMAP < FOSWIKI Mitomap's Confirmed Pathogenic Mutations. The data are derived from 51836 GenBank sequences with size greater than 15.4kbp and 74866 Control Region sequences with size 0.4-1.6k bp. These sequences have been pre-loaded into Mitomaster GENBANK IDS FOR HAPLOGROUP B Index Genbank ID Haplogroup Variants; 1 : AB055387.1: B5b1a2: 73G, 103A, 199C, 204C, 263G, 311d.C, 514d.CA, 709A, 750G, 955d.A, 1438G, 1598A, 2706G, 4769G, 6576d.G WEBHOME < MITOMASTER < FOSWIKI Step 2Option 1. Fasta file use this for sequences in a file of fasta format. Please note that each sequence may take over a second to process. Select file. WEBHOME < MITOMAP < FOSWIKIFOSWIKIMITOMAP WEBUNKNOWNUSERPSEUDOGENELISTLHON MUTATIONSPOLG SERVER MITOMAPA human mitochondrial genome database. MITOMAP. A human mitochondrial genome database. A compendium of polymorphisms and mutations in human mitochondrial DNA. MITOMAP reports published data on human mitochondrial DNA variation. If you would like to add a paper and its data into MITOMAP, please email a pdf to mitomap@email.chop.edu. HUMANMITOSEQ < MITOMAP < FOSWIKI Revised Cambridge Reference Sequence (rCRS) of the Human Mitochondrial DNA. The rCRS sequence is a fully corrected version of the original Cambridge Reference Sequence. The rCRS is GenBank sequence NC_012920 gi:251831106 Get the more information about the rCRS and download the rCRS plus other complete mtDNA reference sequences at GenBank here . POLG PATHOGENICITY PREDICTION SERVER Patient Database and Pathogenic Clusters. Pathogenic POLG mutations cluster into five distinct regions (clusters 1-5) of the three-dimensional structure of the enzyme, whereas they are distributed throughout the primary amino acid sequence. The compound heterozygous nature of the majority of POLG syndromes, combined with possible unidentified contributing genetic and/ or environmental MITOSEQS < MITOMAP < FOSWIKI The rCRS is available as sequence number NC_012920 (formerly AC_000021.2) in GenBank's RefSeq database. This specific rCRS is the most commonly used and standard comparison sequence for human mtDNA research. It is 16569 bp in length, which includes one spacer at position 3107 to preserve the historical CRS position numbering. MITOMASTER SEQUENCE QUERY Step 2Option 1. Fasta file use this for sequences in a file of fasta format. Please note that each sequence may take over a second to process. Select file. Change ×. MITOTIPINFO < MITOMAP < FOSWIKI New Additional Features. MitoTIP sub-scoring details may be found on the details page for each tRNA variant. The MitoTIP percentile score provides the link to the details page. For example, in the screenshot below, clicking on the percentile score of 22.5% TOPVARIANTS < MITOMAP < FOSWIKI Most Frequent Variants in Mitomap ("Top 40") There are twelve variants with ≥50% overall frequency that are widespread across all lineages. These are shown in bold. TABLE 1. Variants present at ≥80% in lineages L, M, or N are in yellow. Variants present at ≥50% are in light blue. Lineage L ("African"): L0, L1, L2, L3, L4, L5, L6. CONFIRMEDMUTATIONS < MITOMAP < FOSWIKI Mitomap's Confirmed Pathogenic Mutations. The data are derived from 51836 GenBank sequences with size greater than 15.4kbp and 74866 Control Region sequences with size 0.4-1.6k bp. These sequences have been pre-loaded into Mitomaster GENBANK IDS FOR HAPLOGROUP B Index Genbank ID Haplogroup Variants; 1 : AB055387.1: B5b1a2: 73G, 103A, 199C, 204C, 263G, 311d.C, 514d.CA, 709A, 750G, 955d.A, 1438G, 1598A, 2706G, 4769G, 6576d.G WEBHOME < MITOMASTER < FOSWIKI Step 2Option 1. Fasta file use this for sequences in a file of fasta format. Please note that each sequence may take over a second to process. Select file. HUMANMITOCODE < MITOMAP < FOSWIKI The Human Mitochondrial Genetic Code. Translations: ATP6, ATP8, ND1, ND2, ND3, ND4, ND4L, ND5, ND6, CO1, CO2, CO3, CytB . Note that, unlike the universal code, UGA codes for tryptophan instead of termination and AUA codes for methionine instead of isoleucine. * AUU codes for isoleucine during elongation but can code for methionine for MITOMED DIAGNOSTIC LABORATORY Mitomed Diagnostic Laboratory Mitochondrial Molecular Testing CETT Testing Center for IBMPFD/ VCP University of California Irvine 2014 Hewitt Hall, Irvine CA 92697-3940 POLG PATHOGENICITY PREDICTION SERVER Residue and mutation information. Browse by residue. Browse patient data. Browse by reference. Putatively dominant POLG mutations. Putatively non-pathogenic SNPs. Pathogenic cluster definitions. CITINGMITOMAP < MITOMAP < FOSWIKI MITOMAP - A human mitochondrial genome database . Please use one of the following two formats to cite MITOMAP. MITOMAP: A Human Mitochondrial Genome Database. POLYMORPHISMSCODING < MITOMAP MITOMAP: mtDNA Coding Region & RNA Sequence Variants . Last Edited: Jun 01, 2021. The GB frequency data is derived from 51836 GenBank sequences with size greater than 15.4kbp and 74866 Control Region sequences with size 0.4-1.6kbp. These sequences have been pre-loaded into Mitomaster and represent almost all haplogroups known to date. POLG PATHOGENICITY PREDICTION SERVER Allelic information not known. Example input: A467T T914P. Example input: A467T, T914P. Mutations in the same allele can be separated with a comma. Separate mutations by commas. EDUARDO'S PHYLOGENETIC TREE l1 5581 1(a9l2a)4(233) 62(565) 731(12) 7521(d) 4(223) 3495a(nd1) 8790(atp6) 12630(nd5) 1282(12) 13810(a492tnd5) 4(389) 8541(atp6c59yatp8) 14599(nd6) 4655(nd2)MTDNA MORBID MAP
12s rRNA D-Loop 01 16569 cyt b ND6 16s rRNA DEAF 1555G MELAS 3243G NDI I-HON 3460A ND2 ND5 ND4 ND4L ND3 5 kb deletion I-HON 14484C I-HON14459A
SEARCHALLELE < MAIN < FOSWIKI Enter a single nucleotide position in the Start box or use both Start and End boxes to enter a range (up to 101 bps). Values must be positive integers from 1 to 16569. Start: End: THE CASE FOR THE CONTINUING USE OF THE REVISED CAMBRIDGE Behar et al.3 themselves are confounding evolutionary theory with issues of notation and convention. In truth, when adopting a phylogenetic approach to analyzing mitochondrial data, it is rather difficult to imagine a researcher confusing a reference sequence with WEBHOME < MITOMAP < FOSWIKIFOSWIKIMITOMAP WEBUNKNOWNUSERPSEUDOGENELISTLHON MUTATIONSPOLG SERVER MITOMAPA human mitochondrial genome database. MITOMAP. A human mitochondrial genome database. A compendium of polymorphisms and mutations in human mitochondrial DNA. MITOMAP reports published data on human mitochondrial DNA variation. If you would like to add a paper and its data into MITOMAP, please email a pdf to mitomap@email.chop.edu. HUMANMITOSEQ < MITOMAP < FOSWIKI Revised Cambridge Reference Sequence (rCRS) of the Human Mitochondrial DNA. The rCRS sequence is a fully corrected version of the original Cambridge Reference Sequence. The rCRS is GenBank sequence NC_012920 gi:251831106 Get the more information about the rCRS and download the rCRS plus other complete mtDNA reference sequences at GenBank here . POLG PATHOGENICITY PREDICTION SERVER Patient Database and Pathogenic Clusters. Pathogenic POLG mutations cluster into five distinct regions (clusters 1-5) of the three-dimensional structure of the enzyme, whereas they are distributed throughout the primary amino acid sequence. The compound heterozygous nature of the majority of POLG syndromes, combined with possible unidentified contributing genetic and/ or environmental MITOSEQS < MITOMAP < FOSWIKI The rCRS is available as sequence number NC_012920 (formerly AC_000021.2) in GenBank's RefSeq database. This specific rCRS is the most commonly used and standard comparison sequence for human mtDNA research. It is 16569 bp in length, which includes one spacer at position 3107 to preserve the historical CRS position numbering. MITOTIPINFO < MITOMAP < FOSWIKI New Additional Features. MitoTIP sub-scoring details may be found on the details page for each tRNA variant. The MitoTIP percentile score provides the link to the details page. For example, in the screenshot below, clicking on the percentile score of 22.5% MITOMASTER SEQUENCE QUERY Step 2Option 1. Fasta file use this for sequences in a file of fasta format. Please note that each sequence may take over a second to process. Select file. Change ×. TOPVARIANTS < MITOMAP < FOSWIKI Most Frequent Variants in Mitomap ("Top 40") There are twelve variants with ≥50% overall frequency that are widespread across all lineages. These are shown in bold. TABLE 1. Variants present at ≥80% in lineages L, M, or N are in yellow. Variants present at ≥50% are in light blue. Lineage L ("African"): L0, L1, L2, L3, L4, L5, L6. CONFIRMEDMUTATIONS < MITOMAP < FOSWIKI Mitomap's Confirmed Pathogenic Mutations. The data are derived from 51836 GenBank sequences with size greater than 15.4kbp and 74866 Control Region sequences with size 0.4-1.6k bp. These sequences have been pre-loaded into Mitomaster GENBANK IDS FOR HAPLOGROUP B Index Genbank ID Haplogroup Variants; 1 : AB055387.1: B5b1a2: 73G, 103A, 199C, 204C, 263G, 311d.C, 514d.CA, 709A, 750G, 955d.A, 1438G, 1598A, 2706G, 4769G, 6576d.G WEBHOME < MITOMASTER < FOSWIKI Step 2Option 1. Fasta file use this for sequences in a file of fasta format. Please note that each sequence may take over a second to process. Select file. WEBHOME < MITOMAP < FOSWIKIFOSWIKIMITOMAP WEBUNKNOWNUSERPSEUDOGENELISTLHON MUTATIONSPOLG SERVER MITOMAPA human mitochondrial genome database. MITOMAP. A human mitochondrial genome database. A compendium of polymorphisms and mutations in human mitochondrial DNA. MITOMAP reports published data on human mitochondrial DNA variation. If you would like to add a paper and its data into MITOMAP, please email a pdf to mitomap@email.chop.edu. HUMANMITOSEQ < MITOMAP < FOSWIKI Revised Cambridge Reference Sequence (rCRS) of the Human Mitochondrial DNA. The rCRS sequence is a fully corrected version of the original Cambridge Reference Sequence. The rCRS is GenBank sequence NC_012920 gi:251831106 Get the more information about the rCRS and download the rCRS plus other complete mtDNA reference sequences at GenBank here . POLG PATHOGENICITY PREDICTION SERVER Patient Database and Pathogenic Clusters. Pathogenic POLG mutations cluster into five distinct regions (clusters 1-5) of the three-dimensional structure of the enzyme, whereas they are distributed throughout the primary amino acid sequence. The compound heterozygous nature of the majority of POLG syndromes, combined with possible unidentified contributing genetic and/ or environmental MITOSEQS < MITOMAP < FOSWIKI The rCRS is available as sequence number NC_012920 (formerly AC_000021.2) in GenBank's RefSeq database. This specific rCRS is the most commonly used and standard comparison sequence for human mtDNA research. It is 16569 bp in length, which includes one spacer at position 3107 to preserve the historical CRS position numbering. MITOTIPINFO < MITOMAP < FOSWIKI New Additional Features. MitoTIP sub-scoring details may be found on the details page for each tRNA variant. The MitoTIP percentile score provides the link to the details page. For example, in the screenshot below, clicking on the percentile score of 22.5% MITOMASTER SEQUENCE QUERY Step 2Option 1. Fasta file use this for sequences in a file of fasta format. Please note that each sequence may take over a second to process. Select file. Change ×. TOPVARIANTS < MITOMAP < FOSWIKI Most Frequent Variants in Mitomap ("Top 40") There are twelve variants with ≥50% overall frequency that are widespread across all lineages. These are shown in bold. TABLE 1. Variants present at ≥80% in lineages L, M, or N are in yellow. Variants present at ≥50% are in light blue. Lineage L ("African"): L0, L1, L2, L3, L4, L5, L6. CONFIRMEDMUTATIONS < MITOMAP < FOSWIKI Mitomap's Confirmed Pathogenic Mutations. The data are derived from 51836 GenBank sequences with size greater than 15.4kbp and 74866 Control Region sequences with size 0.4-1.6k bp. These sequences have been pre-loaded into Mitomaster GENBANK IDS FOR HAPLOGROUP B Index Genbank ID Haplogroup Variants; 1 : AB055387.1: B5b1a2: 73G, 103A, 199C, 204C, 263G, 311d.C, 514d.CA, 709A, 750G, 955d.A, 1438G, 1598A, 2706G, 4769G, 6576d.G WEBHOME < MITOMASTER < FOSWIKI Step 2Option 1. Fasta file use this for sequences in a file of fasta format. Please note that each sequence may take over a second to process. Select file. CITINGMITOMAP < MITOMAP < FOSWIKI MITOMAP - A human mitochondrial genome database . Please use one of the following two formats to cite MITOMAP. MITOMAP: A Human Mitochondrial Genome Database. MITOMED DIAGNOSTIC LABORATORY Mitomed Diagnostic Laboratory Mitochondrial Molecular Testing CETT Testing Center for IBMPFD/ VCP University of California Irvine 2014 Hewitt Hall, Irvine CA 92697-3940 POLYMORPHISMSCODING < MITOMAP MITOMAP: mtDNA Coding Region & RNA Sequence Variants . Last Edited: Jun 01, 2021. The GB frequency data is derived from 51836 GenBank sequences with size greater than 15.4kbp and 74866 Control Region sequences with size 0.4-1.6kbp. These sequences have been pre-loaded into Mitomaster and represent almost all haplogroups known to date. EDUARDO'S PHYLOGENETIC TREE l1 5581 1(a9l2a)4(233) 62(565) 731(12) 7521(d) 4(223) 3495a(nd1) 8790(atp6) 12630(nd5) 1282(12) 13810(a492tnd5) 4(389) 8541(atp6c59yatp8) 14599(nd6) 4655(nd2) POLG PATHOGENICITY PREDICTION SERVER Allelic information not known. Example input: A467T T914P. Example input: A467T, T914P. Mutations in the same allele can be separated with a comma. Separate mutations by commas. HAPLOGROUPMARKERS < MITOMAP < FOSWIKI Top Level Haplogroup Markers. All markers shown, except those in parentheses, are present at ≥80% in the top level haplogroups of the current Mitomap dataset. Parentheses indicate variants which are≥50% but
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