Chr |
chrM |
chrM |
chrM |
Start |
8969 |
8969 |
8969 |
End |
8969 |
8969 |
8969 |
Ref |
G |
G |
G |
Alt |
A |
C |
T |
MitImpact id |
MI.946 |
MI.945 |
MI.947 |
Gene symbol |
MT-ATP6 |
MT-ATP6 |
MT-ATP6 |
Respiratory Chain complex |
V |
V |
V |
Ensembl gene id |
ENSG00000198899 |
ENSG00000198899 |
ENSG00000198899 |
Ensembl protein id |
ENSP00000354632 |
ENSP00000354632 |
ENSP00000354632 |
Ensembl transcript id |
ENST00000361899 |
ENST00000361899 |
ENST00000361899 |
Uniprot name |
ATP6_HUMAN |
ATP6_HUMAN |
ATP6_HUMAN |
Uniprot id |
P00846 |
P00846 |
P00846 |
Ncbi gene id |
4508 |
4508 |
4508 |
Ncbi protein id |
YP_003024031.1 |
YP_003024031.1 |
YP_003024031.1 |
Gene position |
443 |
443 |
443 |
AA position |
148 |
148 |
148 |
AA ref |
S |
S |
S |
AA alt |
N |
T |
I |
Codon substitution |
aGc/aAc |
aGc/aCc |
aGc/aTc |
PhyloP 100V |
8.69 |
8.69 |
8.69 |
PhastCons 100V |
1 |
1 |
1 |
PolyPhen2 |
probably_damaging |
probably_damaging |
probably_damaging |
PolyPhen2 score |
0.98 |
0.98 |
0.99 |
SIFT |
deleterious |
deleterious |
deleterious |
SIFT score |
0 |
0 |
0 |
FatHmm |
neutral |
neutral |
deleterious |
FatHmm score |
-2.96 |
-2.98 |
-6.11 |
FatHmmW |
neutral |
neutral |
neutral |
FatHmmW score |
3.46 |
3.46 |
3.4 |
PROVEAN |
deleterious |
deleterious |
deleterious |
PROVEAN score |
-2.76 |
-2.72 |
-5.48 |
MutationAssessor |
high impact |
high impact |
high impact |
MutationAssessor score |
4.59 |
4.04 |
4.59 |
EFIN SP |
damaging |
damaging |
damaging |
EFIN SP score |
0.47 |
0.51 |
0.49 |
EFIN HD |
damaging |
damaging |
damaging |
EFIN HD score |
0.07 |
0.08 |
0.06 |
CADD |
deleterious |
deleterious |
deleterious |
CADD score |
3.63 |
3.46 |
4.16 |
CADD phred |
23.2 |
23 |
23.8 |
VEST pvalue |
0.45 |
0.22 |
0.2 |
VEST FDR |
0.65 |
0.65 |
0.65 |
PANTHER |
disease |
disease |
disease |
PANTHER score |
0.8 |
0.81 |
0.92 |
PhD-SNP |
disease |
disease |
disease |
PhD-SNP score |
0.71 |
0.65 |
0.9 |
SNAP |
disease |
disease |
disease |
SNAP score |
0.71 |
0.7 |
0.7 |
Meta-SNP |
disease |
disease |
disease |
Meta-SNP score |
0.73 |
0.71 |
0.79 |
Meta-SNP RI |
5 |
4 |
6 |
CAROL |
deleterious |
deleterious |
deleterious |
CAROL score |
1 |
1 |
1 |
Condel |
neutral |
neutral |
neutral |
Condel score |
0.01 |
0.01 |
0.01 |
COVEC WMV |
deleterious |
deleterious |
deleterious |
COVEC WMV score |
6 |
6 |
6 |
MtoolBox |
deleterious |
deleterious |
deleterious |
MtoolBox DS |
0.81 |
0.82 |
0.86 |
PolyPhen2 transf |
low impact |
low impact |
low impact |
PolyPhen2 transf score |
-2.36 |
-2.36 |
-2.65 |
SIFT_transf |
low impact |
low impact |
low impact |
SIFT transf score |
-1.4 |
-1.4 |
-1.4 |
MutationAssessor transf |
high impact |
high impact |
high impact |
MutationAssessor transf score |
2.84 |
2.36 |
2.84 |
CHASM pvalue |
0.44 |
0.71 |
0.68 |
CHASM FDR |
0.9 |
0.9 |
0.9 |
APOGEE |
Likely-pathogenic |
VUS |
Likely-pathogenic |
APOGEE score |
0.8375530282177244 |
0.6745219632910403 |
0.7816044189002936 |
SNPDryad score |
0.88 |
0.67 |
1 |
MutationTaster |
disease_causing_automatic |
disease_causing |
disease_causing |
MutationTaster score |
1 |
1 |
1 |
DEOGEN2 score |
0.33 |
0.22 |
0.42 |
Mitoclass.1 |
damaging |
damaging |
damaging |
dbSNP 155 id |
rs794726857 |
rs794726857 |
. |
ClinVar October2021 Variation id |
191364 |
. |
. |
ClinVar October2021 CLNSIG |
Likely_pathogenic |
. |
. |
ClinVar October2021 CLNDN |
Leber_optic_atrophy|Myopathy,_lactic_acidosis,_and_sideroblastic_anemia_3|Juvenile_myopathy,_encephalopathy,_lactic_acidosis_AND_stroke|Mitochondrial_disease |
. |
. |
ClinVar October2021 CLNDISDB |
Human_Phenotype_Ontology:HP:0001086,Human_Phenotype_Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED_CT:58610003|MONDO:MONDO:0010782,MedGen:C4225415,OMIM:500011|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:ORPHA550,SNOMED_CT:39925003|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380 |
. |
. |
COSMIC 90 |
. |
. |
. |
MITOMAP Allele |
G8969A |
. |
. |
MITOMAP Disease Het/Hom |
-/+ |
. |
. |
MITOMAP Disease Clinical info |
Mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) / IgG nephropathy |
. |
. |
MITOMAP Disease Status |
Cfrm |
. |
. |
MITOMAP Disease GenBank Freq |
0.000% |
. |
. |
MITOMAP Disease GenBank Seqs |
1 (0) |
. |
. |
MITOMAP Disease GenBank Curated refs |
5 |
. |
. |
MITOMAP General GenBank Freq |
. |
0.000% |
. |
MITOMAP General GenBank Seqs |
. |
0 |
. |
MITOMAP General Curated refs |
. |
1 |
. |
gnomAD 3.1 filter |
PASS |
PASS |
. |
gnomAD 3.1 AC Homo |
0 |
3 |
. |
gnomAD 3.1 AC Het |
4 |
1 |
. |
gnomAD 3.1 AF Hom |
0 |
5.3160384e-05 |
. |
gnomAD 3.1 AF Het |
7.0891816e-05 |
1.772013e-05 |
. |
gnomAD 3.1 AN |
56424 |
56433 |
. |
HelixMTdb AC Hom |
0 |
8 |
. |
HelixMTdb AF Hom |
0 |
4.081987e-05 |
. |
HelixMTdb AC Het |
9 |
2 |
. |
HelixMTdb AF Het |
4.592235e-05 |
1.020497e-05 |
. |
HelixMTdb mean ARF |
0.13062 |
0.37364 |
. |
HelixMTdb max ARF |
0.32634 |
0.52688 |
. |
EVmutation |
MT-ATP6_148S|151I:0.202352;152Q:0.15972;166A:0.143987;199L:0.129953;203E:0.118282;149L:0.107154;206V:0.084979;167G:0.074546;157A:0.07425;155A:0.074111;200T:0.071113 |
MT-ATP6_148S|151I:0.202352;152Q:0.15972;166A:0.143987;199L:0.129953;203E:0.118282;149L:0.107154;206V:0.084979;167G:0.074546;157A:0.07425;155A:0.074111;200T:0.071113 |
MT-ATP6_148S|151I:0.202352;152Q:0.15972;166A:0.143987;199L:0.129953;203E:0.118282;149L:0.107154;206V:0.084979;167G:0.074546;157A:0.07425;155A:0.074111;200T:0.071113 |
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 |
. |
. |
. |