Chr |
chrM |
chrM |
chrM |
Start |
14568 |
14568 |
14568 |
End |
14568 |
14568 |
14568 |
Ref |
C |
C |
C |
Alt |
T |
G |
A |
MitImpact id |
MI.23971 |
MI.23969 |
MI.23970 |
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 |
R |
C |
Codon substitution |
Ggt/Agt |
Ggt/Cgt |
Ggt/Tgt |
PhyloP 100V |
3.17 |
3.17 |
3.17 |
PhastCons 100V |
0.97 |
0.97 |
0.97 |
PolyPhen2 |
probably_damaging |
probably_damaging |
probably_damaging |
PolyPhen2 score |
1 |
1 |
1 |
SIFT |
neutral |
neutral |
neutral |
SIFT score |
0.64 |
0.33 |
0.23 |
FatHmm |
neutral |
neutral |
neutral |
FatHmm score |
2.17 |
-1.39 |
-0.48 |
FatHmmW |
neutral |
neutral |
neutral |
FatHmmW score |
2.47 |
2.29 |
2.31 |
PROVEAN |
deleterious |
deleterious |
deleterious |
PROVEAN score |
-5.99 |
-7.98 |
-8.98 |
MutationAssessor |
low impact |
high impact |
medium impact |
MutationAssessor score |
1.72 |
3.6 |
3.25 |
EFIN SP |
damaging |
neutral |
neutral |
EFIN SP score |
0.27 |
0.61 |
0.67 |
EFIN HD |
damaging |
damaging |
damaging |
EFIN HD score |
0.23 |
0.26 |
0.27 |
CADD |
deleterious |
deleterious |
deleterious |
CADD score |
4.27 |
3.99 |
4.54 |
CADD phred |
24 |
23.6 |
24.3 |
VEST pvalue |
0.42 |
0.13 |
0.21 |
VEST FDR |
0.55 |
0.4 |
0.45 |
PANTHER |
neutral |
disease |
disease |
PANTHER score |
0.23 |
0.65 |
0.69 |
PhD-SNP |
disease |
disease |
disease |
PhD-SNP score |
0.52 |
0.93 |
0.92 |
SNAP |
neutral |
disease |
disease |
SNAP score |
0.37 |
0.78 |
0.67 |
Meta-SNP |
neutral |
disease |
disease |
Meta-SNP score |
0.46 |
0.85 |
0.81 |
Meta-SNP RI |
1 |
7 |
6 |
CAROL |
deleterious |
deleterious |
deleterious |
CAROL score |
1 |
1 |
1 |
Condel |
neutral |
neutral |
neutral |
Condel score |
0.32 |
0.17 |
0.12 |
COVEC WMV |
neutral |
deleterious |
deleterious |
COVEC WMV score |
-2 |
2 |
1 |
MtoolBox |
deleterious |
deleterious |
deleterious |
MtoolBox DS |
0.73 |
0.89 |
0.88 |
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 |
0.04 |
-0.09 |
MutationAssessor transf |
medium impact |
medium impact |
medium impact |
MutationAssessor transf score |
0.3 |
1.88 |
1.58 |
CHASM pvalue |
0.77 |
0.76 |
0.79 |
CHASM FDR |
0.85 |
0.85 |
0.85 |
APOGEE |
Likely-pathogenic |
Likely-pathogenic |
VUS |
APOGEE score |
0.8341050167976088 |
0.7596368026449405 |
0.7117214153866452 |
SNPDryad score |
1 |
1 |
0.97 |
MutationTaster |
. |
. |
. |
MutationTaster score |
. |
. |
. |
DEOGEN2 score |
0.53 |
0.7 |
0.57 |
Mitoclass.1 |
neutral |
damaging |
damaging |
dbSNP 155 id |
. |
. |
. |
ClinVar October2021 Variation id |
. |
. |
. |
ClinVar October2021 CLNSIG |
. |
. |
. |
ClinVar October2021 CLNDN |
. |
. |
. |
ClinVar October2021 CLNDISDB |
. |
. |
. |
COSMIC 90 |
. |
. |
COSM1138273 |
MITOMAP Allele |
C14568T |
. |
. |
MITOMAP Disease Het/Hom |
+/- |
. |
. |
MITOMAP Disease Clinical info |
LHON |
. |
. |
MITOMAP Disease Status |
Cfrm |
. |
. |
MITOMAP Disease GenBank Freq |
0.000% |
. |
. |
MITOMAP Disease GenBank Seqs |
6 (0) |
. |
. |
MITOMAP Disease GenBank Curated refs |
11 |
. |
. |
MITOMAP General GenBank Freq |
. |
. |
0.000% |
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 |
1.7719814e-05 |
. |
0 |
gnomAD 3.1 AF Het |
1.7719814e-05 |
. |
0 |
gnomAD 3.1 AN |
56434 |
. |
56433 |
HelixMTdb AC Hom |
2 |
. |
0 |
HelixMTdb AF Hom |
1.0204967e-05 |
. |
0 |
HelixMTdb AC Het |
1 |
. |
1 |
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 |
. |
. |
. |