Chr |
chrM |
chrM |
Start |
14495 |
14495 |
End |
14495 |
14495 |
Ref |
A |
A |
Alt |
G |
C |
MitImpact id |
MI.23813 |
MI.23812 |
Gene symbol |
MT-ND6 |
MT-ND6 |
Respiratory Chain complex |
I |
I |
Ensembl gene id |
ENSG00000198695 |
ENSG00000198695 |
Ensembl protein id |
ENSP00000354665 |
ENSP00000354665 |
Ensembl transcript id |
ENST00000361681 |
ENST00000361681 |
Uniprot name |
NU6M_HUMAN |
NU6M_HUMAN |
Uniprot id |
P03923 |
P03923 |
Ncbi gene id |
4541 |
4541 |
Ncbi protein id |
YP_003024037.1 |
YP_003024037.1 |
Gene position |
179 |
179 |
AA position |
60 |
60 |
AA ref |
L |
L |
AA alt |
S |
W |
Codon substitution |
tTa/tCa |
tTa/tGa |
PhyloP 100V |
-4.86 |
-4.86 |
PhastCons 100V |
0 |
0 |
PolyPhen2 |
probably_damaging |
probably_damaging |
PolyPhen2 score |
1 |
1 |
SIFT |
neutral |
neutral |
SIFT score |
0.29 |
0.12 |
FatHmm |
deleterious |
deleterious |
FatHmm score |
-6.14 |
-7.73 |
FatHmmW |
neutral |
neutral |
FatHmmW score |
2.17 |
2.1 |
PROVEAN |
deleterious |
deleterious |
PROVEAN score |
-5.99 |
-5.99 |
MutationAssessor |
high impact |
high impact |
MutationAssessor score |
3.66 |
4 |
EFIN SP |
damaging |
damaging |
EFIN SP score |
0.23 |
0.5 |
EFIN HD |
damaging |
damaging |
EFIN HD score |
0.17 |
0.25 |
CADD |
deleterious |
deleterious |
CADD score |
3.77 |
3.29 |
CADD phred |
23.4 |
22.8 |
VEST pvalue |
0.19 |
0.15 |
VEST FDR |
0.45 |
0.45 |
PANTHER |
disease |
disease |
PANTHER score |
0.82 |
0.9 |
PhD-SNP |
disease |
disease |
PhD-SNP score |
0.91 |
0.91 |
SNAP |
disease |
disease |
SNAP score |
0.75 |
0.78 |
Meta-SNP |
disease |
disease |
Meta-SNP score |
0.84 |
0.88 |
Meta-SNP RI |
7 |
8 |
CAROL |
deleterious |
deleterious |
CAROL score |
1 |
1 |
Condel |
neutral |
neutral |
Condel score |
0.15 |
0.06 |
COVEC WMV |
deleterious |
deleterious |
COVEC WMV score |
2 |
2 |
MtoolBox |
deleterious |
deleterious |
MtoolBox DS |
0.86 |
0.87 |
PolyPhen2 transf |
low impact |
low impact |
PolyPhen2 transf score |
-3.55 |
-3.55 |
SIFT_transf |
medium impact |
medium impact |
SIFT transf score |
-0.01 |
-0.27 |
MutationAssessor transf |
medium impact |
high impact |
MutationAssessor transf score |
1.93 |
2.21 |
CHASM pvalue |
0.64 |
0.68 |
CHASM FDR |
0.8 |
0.85 |
APOGEE |
Pathogenic |
Likely-pathogenic |
APOGEE score |
0.9304384862426848 |
0.8569007569785384 |
SNPDryad score |
0.97 |
0.98 |
MutationTaster |
. |
. |
MutationTaster score |
. |
. |
DEOGEN2 score |
0.84 |
0.84 |
Mitoclass.1 |
damaging |
damaging |
dbSNP 155 id |
. |
. |
ClinVar October2021 Variation id |
. |
. |
ClinVar October2021 CLNSIG |
. |
. |
ClinVar October2021 CLNDN |
. |
. |
ClinVar October2021 CLNDISDB |
. |
. |
COSMIC 90 |
. |
. |
MITOMAP Allele |
A14495G |
. |
MITOMAP Disease Het/Hom |
-/+ |
. |
MITOMAP Disease Clinical info |
LHON |
. |
MITOMAP Disease Status |
Cfrm |
. |
MITOMAP Disease GenBank Freq |
0.000% |
. |
MITOMAP Disease GenBank Seqs |
2 (0) |
. |
MITOMAP Disease GenBank Curated refs |
12 |
. |
MITOMAP General GenBank Freq |
. |
. |
MITOMAP General GenBank Seqs |
. |
. |
MITOMAP General Curated refs |
. |
. |
gnomAD 3.1 filter |
. |
. |
gnomAD 3.1 AC Homo |
. |
. |
gnomAD 3.1 AC Het |
. |
. |
gnomAD 3.1 AF Hom |
. |
. |
gnomAD 3.1 AF Het |
. |
. |
gnomAD 3.1 AN |
. |
. |
HelixMTdb AC Hom |
. |
. |
HelixMTdb AF Hom |
. |
. |
HelixMTdb AC Het |
. |
. |
HelixMTdb AF Het |
. |
. |
HelixMTdb mean ARF |
. |
. |
HelixMTdb max ARF |
. |
. |
EVmutation |
MT-ND6_60L|74A:0.105229;73M:0.076548;165Y:0.076104;82W:0.074487 |
MT-ND6_60L|74A:0.105229;73M:0.076548;165Y:0.076104;82W:0.074487 |
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 |
. |
. |