Chr |
chrM |
chrM |
chrM |
Start |
13094 |
13094 |
13094 |
End |
13094 |
13094 |
13094 |
Ref |
T |
T |
T |
Alt |
C |
A |
G |
MitImpact id |
MI.20860 |
MI.20861 |
MI.20862 |
Gene symbol |
MT-ND5 |
MT-ND5 |
MT-ND5 |
Respiratory Chain complex |
I |
I |
I |
Ensembl gene id |
ENSG00000198786 |
ENSG00000198786 |
ENSG00000198786 |
Ensembl protein id |
ENSP00000354813 |
ENSP00000354813 |
ENSP00000354813 |
Ensembl transcript id |
ENST00000361567 |
ENST00000361567 |
ENST00000361567 |
Uniprot name |
NU5M_HUMAN |
NU5M_HUMAN |
NU5M_HUMAN |
Uniprot id |
P03915 |
P03915 |
P03915 |
Ncbi gene id |
4540 |
4540 |
4540 |
Ncbi protein id |
YP_003024036.1 |
YP_003024036.1 |
YP_003024036.1 |
Gene position |
758 |
758 |
758 |
AA position |
253 |
253 |
253 |
AA ref |
V |
V |
V |
AA alt |
A |
D |
G |
Codon substitution |
gTt/gCt |
gTt/gAt |
gTt/gGt |
PhyloP 100V |
5.65586 |
5.65586 |
5.65586 |
PhastCons 100V |
1 |
1 |
1 |
PolyPhen2 |
probably_damaging |
probably_damaging |
probably_damaging |
PolyPhen2 score |
1 |
1 |
1 |
SIFT |
neutral |
neutral |
neutral |
SIFT score |
0.62 |
0.23 |
0.5 |
SIFT4G |
Damaging |
Damaging |
Damaging |
SIFT4G score |
0.001 |
0 |
0 |
FatHmm |
deleterious |
deleterious |
deleterious |
FatHmm score |
-3.48 |
-5.78 |
-5.26 |
FatHmmW |
neutral |
neutral |
neutral |
FatHmmW score |
4.23 |
4.19 |
4.2 |
PROVEAN |
deleterious |
deleterious |
deleterious |
PROVEAN score |
-3.6 |
-6.31 |
-6.31 |
MutationAssessor |
high impact |
high impact |
high impact |
MutationAssessor score |
4.7 |
5.25 |
5.25 |
EFIN SP |
damaging |
damaging |
damaging |
EFIN SP score |
0.22 |
0.53 |
0.38 |
EFIN HD |
damaging |
damaging |
damaging |
EFIN HD score |
0.14 |
0.1 |
0.14 |
CADD |
deleterious |
deleterious |
deleterious |
CADD score |
3.52 |
4.46 |
3.79 |
CADD phred |
23.1 |
24.2 |
23.4 |
VEST pvalue |
0.46 |
0.1 |
0.25 |
VEST FDR |
0.55 |
0.4 |
0.45 |
PANTHER |
disease |
disease |
disease |
PANTHER score |
0.81 |
0.92 |
0.93 |
PhD-SNP |
disease |
disease |
disease |
PhD-SNP score |
0.69 |
0.92 |
0.86 |
SNAP |
disease |
disease |
disease |
SNAP score |
0.58 |
0.71 |
0.62 |
Meta-SNP |
disease |
disease |
disease |
Meta-SNP score |
0.65 |
0.65 |
0.67 |
Meta-SNP RI |
3 |
3 |
3 |
CAROL |
deleterious |
deleterious |
deleterious |
CAROL score |
1.0 |
1.0 |
1.0 |
Condel |
neutral |
neutral |
neutral |
Condel score |
0.31 |
0.12 |
0.25 |
COVEC WMV |
deleterious |
deleterious |
deleterious |
COVEC WMV score |
2 |
2 |
2 |
MtoolBox |
deleterious |
deleterious |
deleterious |
MtoolBox DS |
0.81 |
0.87 |
0.83 |
PolyPhen2 transf |
low impact |
low impact |
low impact |
PolyPhen2 transf score |
-3.6 |
-3.6 |
-3.6 |
SIFT_transf |
medium impact |
medium impact |
medium impact |
SIFT transf score |
0.35 |
-0.06 |
0.23 |
MutationAssessor transf |
high impact |
high impact |
high impact |
MutationAssessor transf score |
3.09 |
3.59 |
3.59 |
CHASM pvalue |
0.52 |
0.58 |
0.48 |
CHASM FDR |
0.8 |
0.8 |
0.8 |
APOGEE1 |
Pathogenic |
Pathogenic |
Pathogenic |
APOGEE1 score |
0.89 |
0.67 |
0.76 |
APOGEE2 |
Likely-pathogenic |
Likely-pathogenic |
Likely-pathogenic |
APOGEE2 score |
0.904714881362999 |
0.854530909051963 |
0.882522572948442 |
SNPDryad score |
0.52 |
0.93 |
0.89 |
MutationTaster |
disease_causing |
disease_causing |
disease_causing |
MutationTaster score |
1 |
1 |
1 |
DEOGEN2 score |
0.3 |
0.44 |
0.42 |
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 |
T13094C |
. |
. |
MITOMAP Disease Het/Hom |
+/+ |
. |
. |
MITOMAP Disease Clinical info |
Ataxia+PEO / MELAS, LD, LHON, myoclonus, fatigue |
. |
. |
MITOMAP Disease Status |
Cfrm [P] |
. |
. |
MITOMAP Disease GenBank Freq |
0.002%(0.000%) |
. |
. |
MITOMAP Disease GenBank Seqs |
1 (0) |
. |
. |
MITOMAP Disease GenBank Curated refs |
13 |
. |
. |
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 |
0.0 |
. |
. |
HelixMTdb AF Hom |
0.0 |
. |
. |
HelixMTdb AC Het |
1.0 |
. |
. |
HelixMTdb AF Het |
5.1024836e-06 |
. |
. |
HelixMTdb mean ARF |
0.13986 |
. |
. |
HelixMTdb max ARF |
0.13986 |
. |
. |
EVmutation |
MT-ND5_253V|306T:0.360112;255A:0.196493;254V:0.19601;258F:0.150665;310L:0.133017;337A:0.124488;257I:0.124392;256G:0.107396;303A:0.094454;336K:0.084143 |
MT-ND5_253V|306T:0.360112;255A:0.196493;254V:0.19601;258F:0.150665;310L:0.133017;337A:0.124488;257I:0.124392;256G:0.107396;303A:0.094454;336K:0.084143 |
MT-ND5_253V|306T:0.360112;255A:0.196493;254V:0.19601;258F:0.150665;310L:0.133017;337A:0.124488;257I:0.124392;256G:0.107396;303A:0.094454;336K:0.084143 |
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 |
. |
. |
. |