Chr |
chrM |
chrM |
chrM |
Start |
13051 |
13051 |
13051 |
End |
13051 |
13051 |
13051 |
Ref |
G |
G |
G |
Alt |
A |
T |
C |
MitImpact id |
MI.20773 |
MI.20774 |
MI.20775 |
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 |
715 |
715 |
715 |
AA position |
239 |
239 |
239 |
AA ref |
G |
G |
G |
AA alt |
S |
C |
R |
Codon substitution |
Ggc/Agc |
Ggc/Tgc |
Ggc/Cgc |
PhyloP 100V |
1.33 |
1.33 |
1.33 |
PhastCons 100V |
1 |
1 |
1 |
PolyPhen2 |
probably_damaging |
probably_damaging |
probably_damaging |
PolyPhen2 score |
1 |
1 |
1 |
SIFT |
neutral |
neutral |
neutral |
SIFT score |
0.42 |
0.18 |
0.35 |
FatHmm |
deleterious |
deleterious |
deleterious |
FatHmm score |
-3.07 |
-6.79 |
-4.05 |
FatHmmW |
neutral |
neutral |
neutral |
FatHmmW score |
4.44 |
4.32 |
4.38 |
PROVEAN |
deleterious |
deleterious |
deleterious |
PROVEAN score |
-5.35 |
-8.03 |
-7.13 |
MutationAssessor |
high impact |
high impact |
high impact |
MutationAssessor score |
4.2 |
4.89 |
4.89 |
EFIN SP |
damaging |
damaging |
damaging |
EFIN SP score |
0.38 |
0.29 |
0.35 |
EFIN HD |
damaging |
damaging |
damaging |
EFIN HD score |
0.03 |
0.02 |
0.02 |
CADD |
deleterious |
deleterious |
deleterious |
CADD score |
4.23 |
4.1 |
3.95 |
CADD phred |
23.9 |
23.7 |
23.6 |
VEST pvalue |
0.47 |
0.37 |
0.5 |
VEST FDR |
0.55 |
0.5 |
0.6 |
PANTHER |
disease |
disease |
disease |
PANTHER score |
0.78 |
0.96 |
0.87 |
PhD-SNP |
disease |
disease |
disease |
PhD-SNP score |
0.66 |
0.74 |
0.73 |
SNAP |
disease |
disease |
disease |
SNAP score |
0.68 |
0.71 |
0.79 |
Meta-SNP |
disease |
disease |
disease |
Meta-SNP score |
0.67 |
0.77 |
0.73 |
Meta-SNP RI |
3 |
5 |
5 |
CAROL |
deleterious |
deleterious |
deleterious |
CAROL score |
1 |
1 |
1 |
Condel |
neutral |
neutral |
neutral |
Condel score |
0.21 |
0.09 |
0.18 |
COVEC WMV |
deleterious |
deleterious |
deleterious |
COVEC WMV score |
2 |
2 |
2 |
MtoolBox |
deleterious |
deleterious |
deleterious |
MtoolBox DS |
0.81 |
0.85 |
0.87 |
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 |
0.16 |
-0.13 |
0.08 |
MutationAssessor transf |
high impact |
high impact |
high impact |
MutationAssessor transf score |
2.63 |
3.26 |
3.26 |
CHASM pvalue |
0.73 |
0.46 |
0.8 |
CHASM FDR |
0.85 |
0.8 |
0.85 |
APOGEE |
Pathogenic |
Likely-pathogenic |
Likely-pathogenic |
APOGEE score |
0.9176908189721468 |
0.8506679528383377 |
0.8522576186173205 |
SNPDryad score |
1 |
0.97 |
1 |
MutationTaster |
disease_causing |
disease_causing |
disease_causing |
MutationTaster score |
1 |
1 |
1 |
DEOGEN2 score |
0.18 |
0.42 |
0.39 |
Mitoclass.1 |
damaging |
damaging |
damaging |
dbSNP 155 id |
. |
. |
. |
ClinVar October2021 Variation id |
. |
. |
. |
ClinVar October2021 CLNSIG |
. |
. |
. |
ClinVar October2021 CLNDN |
. |
. |
. |
ClinVar October2021 CLNDISDB |
. |
. |
. |
COSMIC 90 |
. |
. |
. |
MITOMAP Allele |
G13051A |
. |
. |
MITOMAP Disease Het/Hom |
+/- |
. |
. |
MITOMAP Disease Clinical info |
LHON |
. |
. |
MITOMAP Disease Status |
Cfrm |
. |
. |
MITOMAP Disease GenBank Freq |
0.000% |
. |
. |
MITOMAP Disease GenBank Seqs |
0 (0) |
. |
. |
MITOMAP Disease GenBank Curated refs |
4 |
. |
. |
MITOMAP General GenBank Freq |
. |
. |
. |
MITOMAP General GenBank Seqs |
. |
. |
. |
MITOMAP General Curated refs |
. |
. |
. |
gnomAD 3.1 filter |
npg |
. |
. |
gnomAD 3.1 AC Homo |
0 |
. |
. |
gnomAD 3.1 AC Het |
0 |
. |
. |
gnomAD 3.1 AF Hom |
0 |
. |
. |
gnomAD 3.1 AF Het |
0 |
. |
. |
gnomAD 3.1 AN |
56433 |
. |
. |
HelixMTdb AC Hom |
0 |
. |
. |
HelixMTdb AF Hom |
0 |
. |
. |
HelixMTdb AC Het |
3 |
. |
. |
HelixMTdb AF Het |
1.530745e-05 |
. |
. |
HelixMTdb mean ARF |
0.16239 |
. |
. |
HelixMTdb max ARF |
0.21667 |
. |
. |
EVmutation |
MT-ND5_239G|240P:0.163988;244S:0.149771;299K:0.136306;249S:0.117906;420S:0.113008;252M:0.100537;307S:0.085936;243V:0.083;340F:0.082262;253V:0.081357;246L:0.07159;241T:0.069718;332H:0.063667 |
MT-ND5_239G|240P:0.163988;244S:0.149771;299K:0.136306;249S:0.117906;420S:0.113008;252M:0.100537;307S:0.085936;243V:0.083;340F:0.082262;253V:0.081357;246L:0.07159;241T:0.069718;332H:0.063667 |
MT-ND5_239G|240P:0.163988;244S:0.149771;299K:0.136306;249S:0.117906;420S:0.113008;252M:0.100537;307S:0.085936;243V:0.083;340F:0.082262;253V:0.081357;246L:0.07159;241T:0.069718;332H:0.063667 |
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 |
. |
. |
. |