Chr |
chrM |
chrM |
chrM |
Start |
14459 |
14459 |
14459 |
End |
14459 |
14459 |
14459 |
Ref |
G |
G |
G |
Alt |
A |
T |
C |
MitImpact id |
MI.23738 |
MI.23739 |
MI.23740 |
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 |
215 |
215 |
215 |
AA position |
72 |
72 |
72 |
AA ref |
A |
A |
A |
AA alt |
V |
E |
G |
Codon substitution |
gCg/gTg |
gCg/gAg |
gCg/gGg |
PhyloP 100V |
4.20209 |
4.20209 |
4.20209 |
PhastCons 100V |
1 |
1 |
1 |
PolyPhen2 |
probably_damaging |
probably_damaging |
probably_damaging |
PolyPhen2 score |
1 |
1 |
1 |
SIFT |
neutral |
neutral |
neutral |
SIFT score |
0.3 |
0.25 |
0.2 |
SIFT4G |
Damaging |
Damaging |
Damaging |
SIFT4G score |
0.001 |
0 |
0.002 |
FatHmm |
neutral |
deleterious |
neutral |
FatHmm score |
-0.53 |
-3.61 |
-2.95 |
FatHmmW |
neutral |
neutral |
neutral |
FatHmmW score |
2.27 |
2.16 |
2.17 |
PROVEAN |
deleterious |
deleterious |
deleterious |
PROVEAN score |
-3.98 |
-4.98 |
-3.98 |
MutationAssessor |
high impact |
high impact |
high impact |
MutationAssessor score |
3.61 |
3.96 |
3.96 |
EFIN SP |
damaging |
damaging |
damaging |
EFIN SP score |
0.08 |
0.35 |
0.46 |
EFIN HD |
damaging |
damaging |
neutral |
EFIN HD score |
0.15 |
0.19 |
0.46 |
CADD |
deleterious |
deleterious |
deleterious |
CADD score |
4.08 |
3.88 |
3.56 |
CADD phred |
23.7 |
23.5 |
23.1 |
VEST pvalue |
0.4 |
0.15 |
0.25 |
VEST FDR |
0.5 |
0.4 |
0.45 |
PANTHER |
disease |
disease |
disease |
PANTHER score |
0.61 |
0.7 |
0.53 |
PhD-SNP |
disease |
disease |
disease |
PhD-SNP score |
0.92 |
0.95 |
0.91 |
SNAP |
disease |
disease |
disease |
SNAP score |
0.79 |
0.82 |
0.78 |
Meta-SNP |
disease |
disease |
disease |
Meta-SNP score |
0.84 |
0.92 |
0.81 |
Meta-SNP RI |
7 |
8 |
6 |
CAROL |
deleterious |
deleterious |
deleterious |
CAROL score |
1.0 |
1.0 |
1.0 |
Condel |
neutral |
neutral |
neutral |
Condel score |
0.15 |
0.13 |
0.1 |
COVEC WMV |
deleterious |
deleterious |
deleterious |
COVEC WMV score |
2 |
2 |
2 |
MtoolBox |
deleterious |
deleterious |
deleterious |
MtoolBox DS |
0.87 |
0.9 |
0.84 |
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 |
-0.06 |
-0.13 |
MutationAssessor transf |
medium impact |
high impact |
high impact |
MutationAssessor transf score |
1.88 |
2.18 |
2.18 |
CHASM pvalue |
0.86 |
0.8 |
0.81 |
CHASM FDR |
0.9 |
0.85 |
0.85 |
APOGEE1 |
Pathogenic |
Pathogenic |
Pathogenic |
APOGEE1 score |
0.93 |
0.63 |
0.55 |
APOGEE2 |
Pathogenic |
Likely-pathogenic |
VUS+ |
APOGEE2 score |
0.925252754722916 |
0.767269110274587 |
0.712099908387641 |
SNPDryad score |
0.81 |
0.99 |
0.8 |
MutationTaster |
. |
. |
. |
MutationTaster score |
. |
. |
. |
DEOGEN2 score |
0.61 |
0.74 |
0.59 |
Mitoclass.1 |
damaging |
damaging |
damaging |
dbSNP 155 id |
. |
. |
. |
ClinVar July2022 Variation id |
. |
. |
. |
ClinVar July2022 CLNSIG |
. |
. |
. |
ClinVar July2022 CLNDN |
. |
. |
. |
ClinVar July2022 CLNDISDB |
. |
. |
. |
COSMIC 90 |
. |
. |
. |
MITOMAP Allele |
G14459A |
. |
. |
MITOMAP Disease Het/Hom |
+/+ |
. |
. |
MITOMAP Disease Clinical info |
LDYT / Leigh Disease / dystonia / carotid atherosclerosis risk |
. |
. |
MITOMAP Disease Status |
Cfrm [P] |
. |
. |
MITOMAP Disease GenBank Freq |
0.005%(0.000%) |
. |
. |
MITOMAP Disease GenBank Seqs |
3 (0) |
. |
. |
MITOMAP Disease GenBank Curated refs |
46 |
. |
. |
MITOMAP General GenBank Freq |
. |
. |
. |
MITOMAP General GenBank Seqs |
. |
. |
. |
MITOMAP General Curated refs |
. |
. |
. |
gnomAD 3.1 filter |
PASS |
. |
npg |
gnomAD 3.1 AC Homo |
0 |
. |
0 |
gnomAD 3.1 AC Het |
1 |
. |
0 |
gnomAD 3.1 AF Hom |
0 |
. |
0 |
gnomAD 3.1 AF Het |
0.000017720442 |
. |
0 |
gnomAD 3.1 AN |
56432 |
. |
56431 |
HelixMTdb AC Hom |
0.0 |
. |
. |
HelixMTdb AF Hom |
0.0 |
. |
. |
HelixMTdb AC Het |
1.0 |
. |
. |
HelixMTdb AF Het |
5.1024836e-06 |
. |
. |
HelixMTdb mean ARF |
0.14286 |
. |
. |
HelixMTdb max ARF |
0.14286 |
. |
. |
EVmutation |
MT-ND6_72A|150R:0.076918;93L:0.074509 |
MT-ND6_72A|150R:0.076918;93L:0.074509 |
MT-ND6_72A|150R:0.076918;93L:0.074509 |
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 |
. |
. |
. |