Chr |
chrM |
chrM |
chrM |
Start |
9155 |
9155 |
9155 |
End |
9155 |
9155 |
9155 |
Ref |
A |
A |
A |
Alt |
G |
C |
T |
MitImpact id |
MI.1340 |
MI.1339 |
MI.1341 |
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 |
629 |
629 |
629 |
AA position |
210 |
210 |
210 |
AA ref |
Q |
Q |
Q |
AA alt |
R |
P |
L |
Codon substitution |
cAa/cGa |
cAa/cCa |
cAa/cTa |
PhyloP 100V |
7.3 |
7.3 |
7.3 |
PhastCons 100V |
1 |
1 |
1 |
PolyPhen2 |
probably_damaging |
probably_damaging |
probably_damaging |
PolyPhen2 score |
0.97 |
0.98 |
0.97 |
SIFT |
deleterious |
deleterious |
deleterious |
SIFT score |
0 |
0 |
0 |
FatHmm |
deleterious |
deleterious |
deleterious |
FatHmm score |
-6.4 |
-8.64 |
-7.61 |
FatHmmW |
neutral |
neutral |
neutral |
FatHmmW score |
2.95 |
2.92 |
2.92 |
PROVEAN |
deleterious |
deleterious |
deleterious |
PROVEAN score |
-3.54 |
-5.34 |
-6.19 |
MutationAssessor |
high impact |
high impact |
high impact |
MutationAssessor score |
4.59 |
4.24 |
4.59 |
EFIN SP |
damaging |
damaging |
neutral |
EFIN SP score |
0.59 |
0.53 |
0.63 |
EFIN HD |
damaging |
damaging |
damaging |
EFIN HD score |
0.14 |
0.15 |
0.13 |
CADD |
deleterious |
deleterious |
deleterious |
CADD score |
3.54 |
3.49 |
3.94 |
CADD phred |
23.1 |
23.1 |
23.5 |
VEST pvalue |
0.21 |
0.14 |
0.15 |
VEST FDR |
0.65 |
0.65 |
0.65 |
PANTHER |
. |
. |
. |
PANTHER score |
. |
. |
. |
PhD-SNP |
disease |
disease |
disease |
PhD-SNP score |
0.93 |
0.93 |
0.95 |
SNAP |
disease |
disease |
disease |
SNAP score |
0.81 |
0.82 |
0.74 |
Meta-SNP |
disease |
disease |
disease |
Meta-SNP score |
0.84 |
0.86 |
0.85 |
Meta-SNP RI |
7 |
7 |
7 |
CAROL |
deleterious |
deleterious |
deleterious |
CAROL score |
1 |
1 |
1 |
Condel |
neutral |
neutral |
neutral |
Condel score |
0.02 |
0.01 |
0.02 |
COVEC WMV |
deleterious |
deleterious |
deleterious |
COVEC WMV score |
6 |
6 |
6 |
MtoolBox |
deleterious |
deleterious |
deleterious |
MtoolBox DS |
0.92 |
0.94 |
0.9 |
PolyPhen2 transf |
low impact |
low impact |
low impact |
PolyPhen2 transf score |
-2.19 |
-2.36 |
-2.19 |
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 |
2.54 |
2.84 |
CHASM pvalue |
0.48 |
0.49 |
0.35 |
CHASM FDR |
0.9 |
0.9 |
0.9 |
APOGEE |
Likely-pathogenic |
Likely-pathogenic |
Likely-pathogenic |
APOGEE score |
0.869336052668355 |
0.8307316882661465 |
0.8218842112391219 |
SNPDryad score |
0.91 |
0.98 |
0.99 |
MutationTaster |
disease_causing |
disease_causing |
disease_causing |
MutationTaster score |
1 |
1 |
1 |
DEOGEN2 score |
0.42 |
0.42 |
0.43 |
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 |
A9155G |
. |
A9155T |
MITOMAP Disease Het/Hom |
-/+ |
. |
+/+ |
MITOMAP Disease Clinical info |
MIDD, renal insufficiency |
. |
Developmental delay, intellectual disability, low citrilline |
MITOMAP Disease Status |
Cfrm |
. |
Reported |
MITOMAP Disease GenBank Freq |
0.000% |
. |
0.000% |
MITOMAP Disease GenBank Seqs |
0 (0) |
. |
0 (0) |
MITOMAP Disease GenBank Curated refs |
4 |
. |
1 |
MITOMAP General GenBank Freq |
. |
. |
0.000% |
MITOMAP General GenBank Seqs |
. |
. |
0 |
MITOMAP General Curated refs |
. |
. |
1 |
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 |
. |
. |
2 |
HelixMTdb AF Hom |
. |
. |
1.0204967e-05 |
HelixMTdb AC Het |
. |
. |
0 |
HelixMTdb AF Het |
. |
. |
0 |
HelixMTdb mean ARF |
. |
. |
. |
HelixMTdb max ARF |
. |
. |
. |
EVmutation |
MT-ATP6_210Q|217L:0.07151 |
MT-ATP6_210Q|217L:0.07151 |
MT-ATP6_210Q|217L:0.07151 |
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 |
. |
. |
. |