~ | 14568 (C/T) | 14568 (C/A) | 14568 (C/G) |
---|---|---|---|
~ | 14568 (Ggt/Agt) | 14568 (Ggt/Tgt) | 14568 (Ggt/Cgt) |
Chr | chrM | chrM | chrM |
Start | 14568 | 14568 | 14568 |
End | 14568 | 14568 | 14568 |
Ref | C | C | C |
Alt | T | A | G |
MitImpact id | MI.23971 | MI.23970 | MI.23969 |
Gene symbol | MT-ND6 | MT-ND6 | MT-ND6 |
Respiratory Chain complex | I | I | I |
Ensembl gene id | ENSG00000198695 | ENSG00000198695 | ENSG00000198695 |
Ensembl protein id | ENSP00000354665 | ENSP00000354665 | ENSP00000354665 |
Ensembl transcript id | ENST00000361681 | ENST00000361681 | ENST00000361681 |
Uniprot name | NU6M_HUMAN | NU6M_HUMAN | NU6M_HUMAN |
Uniprot id | P03923 | P03923 | P03923 |
Ncbi gene id | 4541 | 4541 | 4541 |
Ncbi protein id | YP_003024037.1 | YP_003024037.1 | YP_003024037.1 |
Gene position | 106 | 106 | 106 |
AA position | 36 | 36 | 36 |
AA ref | G | G | G |
AA alt | S | C | R |
Codon substitution | Ggt/Agt | Ggt/Tgt | Ggt/Cgt |
PhyloP 100V | 2.12762 | 2.12762 | 2.12762 |
PhastCons 100V | 0.905512 | 0.905512 | 0.905512 |
PolyPhen2 | probably_damaging | probably_damaging | probably_damaging |
PolyPhen2 score | 1 | 1 | 1 |
SIFT | neutral | neutral | neutral |
SIFT score | 0.64 | 0.23 | 0.33 |
SIFT4G | Damaging | Damaging | Damaging |
SIFT4G score | 0.036 | 0.001 | 0 |
FatHmm | neutral | neutral | neutral |
FatHmm score | 2.17 | -0.48 | -1.39 |
FatHmmW | neutral | neutral | neutral |
FatHmmW score | 2.47 | 2.31 | 2.29 |
PROVEAN | deleterious | deleterious | deleterious |
PROVEAN score | -5.99 | -8.98 | -7.98 |
MutationAssessor | low impact | medium impact | high impact |
MutationAssessor score | 1.72 | 3.25 | 3.6 |
EFIN SP | damaging | neutral | neutral |
EFIN SP score | 0.27 | 0.67 | 0.61 |
EFIN HD | damaging | damaging | damaging |
EFIN HD score | 0.23 | 0.27 | 0.26 |
CADD | deleterious | deleterious | deleterious |
CADD score | 4.27 | 4.54 | 3.99 |
CADD phred | 24.0 | 24.3 | 23.6 |
VEST pvalue | 0.42 | 0.21 | 0.13 |
VEST FDR | 0.55 | 0.45 | 0.4 |
PANTHER | neutral | disease | disease |
PANTHER score | 0.23 | 0.69 | 0.65 |
PhD-SNP | disease | disease | disease |
PhD-SNP score | 0.52 | 0.92 | 0.93 |
SNAP | neutral | disease | disease |
SNAP score | 0.37 | 0.67 | 0.78 |
Meta-SNP | neutral | disease | disease |
Meta-SNP score | 0.46 | 0.81 | 0.85 |
Meta-SNP RI | 1 | 6 | 7 |
CAROL | deleterious | deleterious | deleterious |
CAROL score | 1.0 | 1.0 | 1.0 |
Condel | neutral | neutral | neutral |
Condel score | 0.32 | 0.12 | 0.17 |
COVEC WMV | neutral | deleterious | deleterious |
COVEC WMV score | -2 | 1 | 2 |
MtoolBox | deleterious | deleterious | deleterious |
MtoolBox DS | 0.73 | 0.88 | 0.89 |
PolyPhen2 transf | low impact | low impact | low impact |
PolyPhen2 transf score | -3.55 | -3.55 | -3.55 |
SIFT_transf | medium impact | medium impact | medium impact |
SIFT transf score | 0.35 | -0.09 | 0.04 |
MutationAssessor transf | medium impact | medium impact | medium impact |
MutationAssessor transf score | 0.3 | 1.58 | 1.88 |
CHASM pvalue | 0.77 | 0.79 | 0.76 |
CHASM FDR | 0.85 | 0.85 | 0.85 |
APOGEE1 | Pathogenic | Pathogenic | Pathogenic |
APOGEE1 score | 0.9 | 0.53 | 0.57 |
APOGEE2 | Likely-pathogenic | VUS+ | Likely-pathogenic |
APOGEE2 score | 0.834105016797609 | 0.711721415386645 | 0.75963680264494 |
SNPDryad score | 1.0 | 0.97 | 1.0 |
MutationTaster | . | . | . |
MutationTaster score | . | . | . |
DEOGEN2 score | 0.53 | 0.57 | 0.7 |
Mitoclass.1 | neutral | damaging | damaging |
dbSNP 155 id | . | . | . |
ClinVar July2022 Variation id | . | . | . |
ClinVar July2022 CLNSIG | . | . | . |
ClinVar July2022 CLNDN | . | . | . |
ClinVar July2022 CLNDISDB | . | . | . |
COSMIC 90 | . | COSM1138273 | . |
MITOMAP Allele | C14568T | . | . |
MITOMAP Disease Het/Hom | +/- | . | . |
MITOMAP Disease Clinical info | LHON | . | . |
MITOMAP Disease Status | Cfrm [LP] | . | . |
MITOMAP Disease GenBank Freq | 0.010%(0.000%) | . | . |
MITOMAP Disease GenBank Seqs | 6 (0) | . | . |
MITOMAP Disease GenBank Curated refs | 11 | . | . |
MITOMAP General GenBank Freq | . | 0 | . |
MITOMAP General GenBank Seqs | . | 0 | . |
MITOMAP General Curated refs | . | 1 | . |
gnomAD 3.1 filter | PASS | npg | . |
gnomAD 3.1 AC Homo | 1 | 0 | . |
gnomAD 3.1 AC Het | 1 | 0 | . |
gnomAD 3.1 AF Hom | 0.000017719814 | 0 | . |
gnomAD 3.1 AF Het | 0.000017719814 | 0 | . |
gnomAD 3.1 AN | 56434 | 56433 | . |
HelixMTdb AC Hom | 2.0 | 0.0 | . |
HelixMTdb AF Hom | 1.0204967e-05 | 0.0 | . |
HelixMTdb AC Het | 1.0 | 1.0 | . |
HelixMTdb AF Het | 5.1024836e-06 | 5.1024836e-06 | . |
HelixMTdb mean ARF | 0.32326 | 0.14658 | . | HelixMTdb max ARF | 0.32326 | 0.14658 | . |
EVmutation | MT-ND6_36G|153V:0.10776;68G:0.106159;52G:0.097427;149G:0.078428;161F:0.072288;39G:0.071381;171A:0.065204 | MT-ND6_36G|153V:0.10776;68G:0.106159;52G:0.097427;149G:0.078428;161F:0.072288;39G:0.071381;171A:0.065204 | MT-ND6_36G|153V:0.10776;68G:0.106159;52G:0.097427;149G:0.078428;161F:0.072288;39G:0.071381;171A:0.065204 |
Site A InterP | . | . | . |
Site B InterP | . | . | . |
Covariation Score InterP | . | . | . |
Site A IntraP | . | . | . |
Site B IntraP | . | . | . |
Covariation Score IntraP | . | . | . |
CPD AA ref | . | . | . |
CPD AA alt | . | . | . |
CPD Aln pos | . | . | . |
CPD Frequency | . | . | . |
CPD Species name | . | . | . |
CPD RefSeq Protein ID | . | . | . |
CPD Ncbi Taxon id | . | . | . |
DDG intra | . | . | . |
DDG intra interface | . | . | . |
DDG inter | . | . | . |