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8993 (T > C)

General info

Chr
chrM
Start
8993
End
8993
Ref
T
Alt
C
Mitimpact ID
MI.997
Gene symbol
MT-ATP6
RC complex
V
Ensembl gene ID
ENSG00000198899
Ensembl protein ID
ENSP00000354632
Ensembl transcript ID
ENST00000361899
Uniprot name
ATP6_HUMAN
Uniprot ID
P00846
Ncbi gene ID
4508
Ncbi protein ID
YP_003024031.1
Gene position
467
AA pos
156
AA ref
L
AA alt
P
Codon substitution
cTg/cCg
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
5.87961 Conservation Score
PhastCons 100v
0.897638 Conservation Score

Pathogenicity predictors

PolyPhen2
Probably damaging Score and details of the predictor
SIFT
Deleterious Score and details of the predictor
SIFT4G
Damaging Score and details of the predictor
FatHmm
Deleterious Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Deleterious Score and details of the predictor
Mutation Assessor
High impact Score and details of the predictor
EFIN SP
Damaging Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Disease Score and details of the predictor
PhD-SNP
Disease Score and details of the predictor
MutationTaster
Disease causing automatic Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Disease Score and details of the predictor
MitoClass 1
Damaging Score and details of the predictor
SNPDryad
Pathogenic Score and details of the predictor

Pathogenicity meta-predictors

APOGEE1
Pathogenic Score and details of the meta-predictor
APOGEE2
Pathogenic Score and details of the meta-predictor
CAROL
Deleterious Score and details of the meta-predictor
Condel
Neutral Score and details of the meta-predictor
COVEC WMV
Deleterious Score and details of the meta-predictor
Meta SNP
Disease Score and details of the meta-predictor
MtoolBox
Deleterious Score and details of the meta-predictor
DEOGEN2
Neutral Score and details of the meta-predictor

Cancer-specific predictors

PolyPhen2 transf
Low impact Score and details of the cancer-specific predictor
SIFT transf
Low impact Score and details of the cancer-specific predictor
MutationAssessor transf
High impact Score and details of the cancer-specific predictor
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Phenotypes

ClinVar July2022 CLNSIG
Pathogenic
ClinVar July2022 CLNDN
Leber optic atrophy;

leigh syndrome;

ataxia and polyneuropathy, adult-onset;

narp syndrome;

mitochondrial complex 5 (atp synthase) deficiency, mitochondrial type 1;

mitochondrial disease;

not provided
ClinVar July2022 Variation ID
9642
ClinVar July2022 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:0009723, medgen:c0023264, omim:256000, orphanet:orpha506, snomed ct:29570005;

mondo:mondo:0010781, medgen:c1838916, omim:500010;

mondo:mondo:0010794, medgen:c1328349, omim:551500, orphanet:orpha644;

mondo:mondo:0027069, medgen:c3275684, omim:500015;

mondo:mondo:0044970, medgen:c0751651, orphanet:orpha68380;

medgen:cn517202
MITOMAP Allele
8993T>C
MITOMAP Disease Het/Hom
-/+
MITOMAP Disease Clinical info
NArp / leigh disease / mils / other
MITOMAP Disease Status
Cfrm [p]
MITOMAP Disease GenBank Freq
0.003%(0.000%)
MITOMAP Disease GenBank Seqs
2 (0)
MITOMAP Disease GenBank Curated refs
51
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
Gnomad31 filter
Pass
Gnomad31 AC hom
1
Gnomad31 AC het
1
Gnomad31 AF hom
0.000017720757
Gnomad31 AF het
0.000017720757
Gnomad31 AN
56431
HelixMTdb AC hom
0.0
HelixMTdb AF hom
0.0
HelixMTdb AC het
2.0
HelixMTdb AF het
1.0204967e-05
HelixMTdb mean ARF
0.41236
HelixMTdb max ARF
0.5687
COSMIC 90
.
dbSNP 155
rs199476133

Residue interaction

EVmutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Compensated Pathogenic Deviations

Frequency
.
AA ref
.
CPD AA alt
.
Aln pos
.
RefSeq protein ID
.
Species name
.
Ncbi taxon ID
.

8993 (T > G)

General info

Chr
chrM
Start
8993
End
8993
Ref
T
Alt
G
Mitimpact ID
MI.995
Gene symbol
MT-ATP6
RC complex
V
Ensembl gene ID
ENSG00000198899
Ensembl protein ID
ENSP00000354632
Ensembl transcript ID
ENST00000361899
Uniprot name
ATP6_HUMAN
Uniprot ID
P00846
Ncbi gene ID
4508
Ncbi protein ID
YP_003024031.1
Gene position
467
AA pos
156
AA ref
L
AA alt
R
Codon substitution
cTg/cGg
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
5.87961 Conservation Score
PhastCons 100v
0.897638 Conservation Score

Pathogenicity predictors

PolyPhen2
Probably damaging Score and details of the predictor
SIFT
Deleterious Score and details of the predictor
SIFT4G
Damaging Score and details of the predictor
FatHmm
Deleterious Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Deleterious Score and details of the predictor
Mutation Assessor
High impact Score and details of the predictor
EFIN SP
Damaging Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Disease Score and details of the predictor
PhD-SNP
Disease Score and details of the predictor
MutationTaster
Disease causing automatic Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Disease Score and details of the predictor
MitoClass 1
Damaging Score and details of the predictor
SNPDryad
Pathogenic Score and details of the predictor

Pathogenicity meta-predictors

APOGEE1
Pathogenic Score and details of the meta-predictor
APOGEE2
Pathogenic Score and details of the meta-predictor
CAROL
Deleterious Score and details of the meta-predictor
Condel
Neutral Score and details of the meta-predictor
COVEC WMV
Deleterious Score and details of the meta-predictor
Meta SNP
Disease Score and details of the meta-predictor
MtoolBox
Deleterious Score and details of the meta-predictor
DEOGEN2
Neutral Score and details of the meta-predictor

Cancer-specific predictors

PolyPhen2 transf
Low impact Score and details of the cancer-specific predictor
SIFT transf
Low impact Score and details of the cancer-specific predictor
MutationAssessor transf
High impact Score and details of the cancer-specific predictor
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Phenotypes

ClinVar July2022 CLNSIG
Pathogenic
ClinVar July2022 CLNDN
Scrotal hypoplasia;

hypertelorism;

low-set ears;

rod-cone dystrophy;

wide intermamillary distance;

leber optic atrophy;

postaxial hand polydactyly;

cerebellar ataxia;

premature birth;

bilateral cleft lip and palate;

camptodactyly of finger;

leigh syndrome;

narp syndrome;

mitochondrial complex 5 (atp synthase) deficiency, mitochondrial type 1;

mitochondrial disease;

not provided
ClinVar July2022 Variation ID
9641
ClinVar July2022 CLNDISDB
Human phenotype ontology:hp:0000046, medgen:c0431659;

human phenotype ontology:hp:0000316, human phenotype ontology:hp:0000578, human phenotype ontology:hp:0002001, human phenotype ontology:hp:0004657, human phenotype ontology:hp:0007871, medgen:c0020534, omim:145400;

human phenotype ontology:hp:0000369, medgen:c0239234;

human phenotype ontology:hp:0000510, human phenotype ontology:hp:0001127, human phenotype ontology:hp:0007635, human phenotype ontology:hp:0007645, human phenotype ontology:hp:0007742, human phenotype ontology:hp:0007816, human phenotype ontology:hp:0007826, human phenotype ontology:hp:0007927, human phenotype ontology:hp:0008036, medgen:c4551714;

human phenotype ontology:hp:0000779, human phenotype ontology:hp:0001554, human phenotype ontology:hp:0006610, medgen:c1827524;

human phenotype ontology:hp:0001086, human phenotype ontology:hp:0001112, mondo:mondo:0010788, medgen:c0917796, omim:535000, orphanet:orpha104, snomed ct:58610003;

human phenotype ontology:hp:0001162, human phenotype ontology:hp:0004698, human phenotype ontology:hp:0005763, human phenotype ontology:hp:0009984, mondo:mondo:0017426, medgen:c0431904;

human phenotype ontology:hp:0001251, human phenotype ontology:hp:0001253, human phenotype ontology:hp:0002513, human phenotype ontology:hp:0007050, human phenotype ontology:hp:0007157, mondo:mondo:0000437, medgen:c0007758, orphanet:orpha102002, snomed ct:85102008;

human phenotype ontology:hp:0001622, medgen:c0151526;

human phenotype ontology:hp:0002744, medgen:c1398522;

human phenotype ontology:hp:0005651, human phenotype ontology:hp:0005662, human phenotype ontology:hp:0005713, human phenotype ontology:hp:0005801, human phenotype ontology:hp:0005821, human phenotype ontology:hp:0006195, human phenotype ontology:hp:0006218, human phenotype ontology:hp:0006240, human phenotype ontology:hp:0009698, human phenotype ontology:hp:0100490, medgen:c0409348;

mondo:mondo:0009723, medgen:c0023264, omim:256000, orphanet:orpha506, snomed ct:29570005;

mondo:mondo:0010794, medgen:c1328349, omim:551500, orphanet:orpha644;

mondo:mondo:0027069, medgen:c3275684, omim:500015;

mondo:mondo:0044970, medgen:c0751651, orphanet:orpha68380;

medgen:cn517202
MITOMAP Allele
8993T>G
MITOMAP Disease Het/Hom
+/+
MITOMAP Disease Clinical info
NArp / leigh disease / mils / other
MITOMAP Disease Status
Cfrm [p]
MITOMAP Disease GenBank Freq
0.010%(0.000%)
MITOMAP Disease GenBank Seqs
6 (0)
MITOMAP Disease GenBank Curated refs
161
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
Gnomad31 filter
Npg
Gnomad31 AC hom
0
Gnomad31 AC het
0
Gnomad31 AF hom
0
Gnomad31 AF het
0
Gnomad31 AN
56433
HelixMTdb AC hom
0.0
HelixMTdb AF hom
0.0
HelixMTdb AC het
1.0
HelixMTdb AF het
5.1024836e-06
HelixMTdb mean ARF
0.59358
HelixMTdb max ARF
0.59358
COSMIC 90
.
dbSNP 155
rs199476133

Residue interaction

EVmutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Compensated Pathogenic Deviations

Frequency
.
AA ref
.
CPD AA alt
.
Aln pos
.
RefSeq protein ID
.
Species name
.
Ncbi taxon ID
.

8993 (T > A)

General info

Chr
chrM
Start
8993
End
8993
Ref
T
Alt
A
Mitimpact ID
MI.996
Gene symbol
MT-ATP6
RC complex
V
Ensembl gene ID
ENSG00000198899
Ensembl protein ID
ENSP00000354632
Ensembl transcript ID
ENST00000361899
Uniprot name
ATP6_HUMAN
Uniprot ID
P00846
Ncbi gene ID
4508
Ncbi protein ID
YP_003024031.1
Gene position
467
AA pos
156
AA ref
L
AA alt
Q
Codon substitution
cTg/cAg
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
5.87961 Conservation Score
PhastCons 100v
0.897638 Conservation Score

Pathogenicity predictors

PolyPhen2
Probably damaging Score and details of the predictor
SIFT
Deleterious Score and details of the predictor
SIFT4G
Damaging Score and details of the predictor
FatHmm
Deleterious Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Deleterious Score and details of the predictor
Mutation Assessor
High impact Score and details of the predictor
EFIN SP
Damaging Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Disease Score and details of the predictor
PhD-SNP
Disease Score and details of the predictor
MutationTaster
Disease causing Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Disease Score and details of the predictor
MitoClass 1
Damaging Score and details of the predictor
SNPDryad
Pathogenic Score and details of the predictor

Pathogenicity meta-predictors

APOGEE1
Pathogenic Score and details of the meta-predictor
APOGEE2
Pathogenic Score and details of the meta-predictor
CAROL
Deleterious Score and details of the meta-predictor
Condel
Neutral Score and details of the meta-predictor
COVEC WMV
Deleterious Score and details of the meta-predictor
Meta SNP
Disease Score and details of the meta-predictor
MtoolBox
Deleterious Score and details of the meta-predictor
DEOGEN2
Neutral Score and details of the meta-predictor

Cancer-specific predictors

PolyPhen2 transf
Low impact Score and details of the cancer-specific predictor
SIFT transf
Low impact Score and details of the cancer-specific predictor
MutationAssessor transf
High impact Score and details of the cancer-specific predictor
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Phenotypes

ClinVar July2022 CLNSIG
.
ClinVar July2022 CLNDN
.
ClinVar July2022 Variation ID
.
ClinVar July2022 CLNDISDB
.
MITOMAP Allele
.
MITOMAP Disease Het/Hom
.
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease GenBank Freq
.
MITOMAP Disease GenBank Seqs
.
MITOMAP Disease GenBank Curated refs
.
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
Gnomad31 filter
.
Gnomad31 AC hom
.
Gnomad31 AC het
.
Gnomad31 AF hom
.
Gnomad31 AF het
.
Gnomad31 AN
.
HelixMTdb AC hom
.
HelixMTdb AF hom
.
HelixMTdb AC het
.
HelixMTdb AF het
.
HelixMTdb mean ARF
.
HelixMTdb max ARF
.
COSMIC 90
.
dbSNP 155
.

Residue interaction

EVmutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Compensated Pathogenic Deviations

Frequency
.
AA ref
.
CPD AA alt
.
Aln pos
.
RefSeq protein ID
.
Species name
.
Ncbi taxon ID
.
~ 8993 (T/C) 8993 (T/G) 8993 (T/A)
~ 8993 (cTg/cCg) 8993 (cTg/cGg) 8993 (cTg/cAg)
Chr chrM chrM chrM
Start 8993 8993 8993
End 8993 8993 8993
Ref T T T
Alt C G A
MitImpact id MI.997 MI.995 MI.996
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 467 467 467
AA position 156 156 156
AA ref L L L
AA alt P R Q
Codon substitution cTg/cCg cTg/cGg cTg/cAg
PhyloP 100V 5.87961 5.87961 5.87961
PhastCons 100V 0.897638 0.897638 0.897638
PolyPhen2 probably_damaging probably_damaging probably_damaging
PolyPhen2 score 1.0 1.0 1.0
SIFT deleterious deleterious deleterious
SIFT score 0 0 0
SIFT4G Damaging Damaging Damaging
SIFT4G score 0 0.007 0
FatHmm deleterious deleterious deleterious
FatHmm score -8.95 -8.72 -8.91
FatHmmW neutral neutral neutral
FatHmmW score 2.25 2.25 2.25
PROVEAN deleterious deleterious deleterious
PROVEAN score -5.96 -5.18 -5.16
MutationAssessor high impact high impact high impact
MutationAssessor score 4.63 4.63 4.63
EFIN SP damaging damaging damaging
EFIN SP score 0.05 0.06 0.36
EFIN HD neutral neutral neutral
EFIN HD score 0.51 0.42 0.48
CADD deleterious deleterious deleterious
CADD score 3.98 4.27 4.27
CADD phred 23.6 24 24
VEST pvalue 0.12 0.1 0.12
VEST FDR 0.65 0.65 0.65
PANTHER disease disease disease
PANTHER score 0.93 0.88 0.89
PhD-SNP disease disease disease
PhD-SNP score 0.83 0.88 0.83
SNAP disease disease disease
SNAP score 0.83 0.84 0.76
Meta-SNP disease disease disease
Meta-SNP score 0.87 0.87 0.82
Meta-SNP RI 7 7 6
CAROL deleterious deleterious deleterious
CAROL score 1 1 1
Condel neutral neutral neutral
Condel score 0 0 0
COVEC WMV deleterious deleterious deleterious
COVEC WMV score 6 6 6
MtoolBox deleterious deleterious deleterious
MtoolBox DS 0.9 0.91 0.87
PolyPhen2 transf low impact low impact low impact
PolyPhen2 transf score -3.6 -3.6 -3.6
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 2.87 2.87 2.87
CHASM pvalue 0.43 0.48 0.68
CHASM FDR 0.9 0.9 0.9
APOGEE1 Pathogenic Pathogenic Pathogenic
APOGEE1 score 0.95 0.95 0.7
APOGEE2 Pathogenic Pathogenic Pathogenic
APOGEE2 score 0.973287196910564 0.973931315913835 0.914608701922158
SNPDryad score 1 0.99 0.98
MutationTaster disease_causing_automatic disease_causing_automatic disease_causing
MutationTaster score 1 0.58 0.52
DEOGEN2 score 0.43 0.42 0.42
Mitoclass.1 damaging damaging damaging
dbSNP 155 id rs199476133 rs199476133 .
ClinVar July2022 Variation id 9642 9641 .
ClinVar July2022 CLNSIG Pathogenic Pathogenic .
ClinVar July2022 CLNDN Leber_optic_atrophy|Leigh_syndrome|Ataxia_and_polyneuropathy,_adult-onset|NARP_syndrome|Mitochondrial_complex_5_(ATP_synthase)_deficiency,_mitochondrial_type_1|Mitochondrial_disease|not_provided Scrotal_hypoplasia|Hypertelorism|Low-set_ears|Rod-cone_dystrophy|Wide_intermamillary_distance|Leber_optic_atrophy|Postaxial_hand_polydactyly|Cerebellar_ataxia|Premature_birth|Bilateral_cleft_lip_and_palate|Camptodactyly_of_finger|Leigh_syndrome|NARP_syndrome|Mitochondrial_complex_5_(ATP_synthase)_deficiency,_mitochondrial_type_1|Mitochondrial_disease|not_provided .
ClinVar July2022 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:0009723,MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MONDO:MONDO:0010781,MedGen:C1838916,OMIM:500010|MONDO:MONDO:0010794,MedGen:C1328349,OMIM:551500,Orphanet:ORPHA644|MONDO:MONDO:0027069,MedGen:C3275684,OMIM:500015|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN517202 Human_Phenotype_Ontology:HP:0000046,MedGen:C0431659|Human_Phenotype_Ontology:HP:0000316,Human_Phenotype_Ontology:HP:0000578,Human_Phenotype_Ontology:HP:0002001,Human_Phenotype_Ontology:HP:0004657,Human_Phenotype_Ontology:HP:0007871,MedGen:C0020534,OMIM:145400|Human_Phenotype_Ontology:HP:0000369,MedGen:C0239234|Human_Phenotype_Ontology:HP:0000510,Human_Phenotype_Ontology:HP:0001127,Human_Phenotype_Ontology:HP:0007635,Human_Phenotype_Ontology:HP:0007645,Human_Phenotype_Ontology:HP:0007742,Human_Phenotype_Ontology:HP:0007816,Human_Phenotype_Ontology:HP:0007826,Human_Phenotype_Ontology:HP:0007927,Human_Phenotype_Ontology:HP:0008036,MedGen:C4551714|Human_Phenotype_Ontology:HP:0000779,Human_Phenotype_Ontology:HP:0001554,Human_Phenotype_Ontology:HP:0006610,MedGen:C1827524|Human_Phenotype_Ontology:HP:0001086,Human_Phenotype_Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED_CT:58610003|Human_Phenotype_Ontology:HP:0001162,Human_Phenotype_Ontology:HP:0004698,Human_Phenotype_Ontology:HP:0005763,Human_Phenotype_Ontology:HP:0009984,MONDO:MONDO:0017426,MedGen:C0431904|Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:ORPHA102002,SNOMED_CT:85102008|Human_Phenotype_Ontology:HP:0001622,MedGen:C0151526|Human_Phenotype_Ontology:HP:0002744,MedGen:C1398522|Human_Phenotype_Ontology:HP:0005651,Human_Phenotype_Ontology:HP:0005662,Human_Phenotype_Ontology:HP:0005713,Human_Phenotype_Ontology:HP:0005801,Human_Phenotype_Ontology:HP:0005821,Human_Phenotype_Ontology:HP:0006195,Human_Phenotype_Ontology:HP:0006218,Human_Phenotype_Ontology:HP:0006240,Human_Phenotype_Ontology:HP:0009698,Human_Phenotype_Ontology:HP:0100490,MedGen:C0409348|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MONDO:MONDO:0010794,MedGen:C1328349,OMIM:551500,Orphanet:ORPHA644|MONDO:MONDO:0027069,MedGen:C3275684,OMIM:500015|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN517202 .
COSMIC 90 . . .
MITOMAP Allele T8993C T8993G .
MITOMAP Disease Het/Hom -/+ +/+ .
MITOMAP Disease Clinical info NARP / Leigh Disease / MILS / other NARP / Leigh Disease / MILS / other .
MITOMAP Disease Status Cfrm [P] Cfrm [P] .
MITOMAP Disease GenBank Freq 0.003%(0.000%) 0.010%(0.000%) .
MITOMAP Disease GenBank Seqs 2 (0) 6 (0) .
MITOMAP Disease GenBank Curated refs 51 161 .
MITOMAP General GenBank Freq . . .
MITOMAP General GenBank Seqs . . .
MITOMAP General Curated refs . . .
gnomAD 3.1 filter PASS npg .
gnomAD 3.1 AC Homo 1 0 .
gnomAD 3.1 AC Het 1 0 .
gnomAD 3.1 AF Hom 0.000017720757 0 .
gnomAD 3.1 AF Het 0.000017720757 0 .
gnomAD 3.1 AN 56431 56433 .
HelixMTdb AC Hom 0.0 0.0 .
HelixMTdb AF Hom 0.0 0.0 .
HelixMTdb AC Het 2.0 1.0 .
HelixMTdb AF Het 1.0204967e-05 5.1024836e-06 .
HelixMTdb mean ARF 0.41236 0.59358 .
HelixMTdb max ARF 0.5687 0.59358 .
EVmutation MT-ATP6_156L|221Y:0.236277;218V:0.185549;163N:0.175304;213V:0.153339;209I:0.108743;205A:0.107658;158V:0.092486;171M:0.084289;173L:0.072801;195I:0.069883;170L:0.06897 MT-ATP6_156L|221Y:0.236277;218V:0.185549;163N:0.175304;213V:0.153339;209I:0.108743;205A:0.107658;158V:0.092486;171M:0.084289;173L:0.072801;195I:0.069883;170L:0.06897 MT-ATP6_156L|221Y:0.236277;218V:0.185549;163N:0.175304;213V:0.153339;209I:0.108743;205A:0.107658;158V:0.092486;171M:0.084289;173L:0.072801;195I:0.069883;170L:0.06897
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 . . .
For more info, please check the output legend.
ΔΔG values >±0.61 Kcal/mol are indicative of disrupting variants.
ΔΔG values close to zero (<±0.1 Kcal/mol) are indicative of possibly
compensating double mutants.
For more info, please check the output legend.
ΔΔG values >±0.61 Kcal/mol are indicative of disrupting variants.
ΔΔG values close to zero (<±0.1 Kcal/mol) are indicative of possibly
compensating double mutants.
For more info, please check the output legend.
ΔΔG values >±0.61 Kcal/mol are indicative of disrupting variants.
ΔΔG values close to zero (<±0.1 Kcal/mol) are indicative of possibly
compensating double mutants.
For more info, please check the output legend.
For more info, please check the output legend.
Score:  
0
  [min -20, max 10]
  • Predicted accelerated evolution:  score <= 0
  • Conserved:  score > 0
Score:  
0
  [min 0, max 1]
  • Non-conserved:  score <= 0.7
  • Conserved:  score > 0.7 (soft threshold)
Score:  
0
  [min 0, max 1]
  • Neutral:  score <= 0.15
  • Possibly damaging:  0.15 < score <= 0.85
  • Probably damaging:  score > 0.85
Score:  
0
  [min 0, max 1]
  • Neutral:  score > 0.05
  • Deleterious:  score <= 0.05
Score:  
0
  [min 0, max 1]
  • Neutral:  score > 0.05
  • Deleterious:  score <= 0.05
Score:  
0
  [min -15, max 10]
  • Neutral:  score > -3
  • Deleterious:  score <= -3
Score:  
0
  [min -3, max 6]
  • Neutral:  score > -1.5
  • Deleterious:  score <= -1.5
Score:  
0
  [min -14, max 14]
  • Neutral:  score > -2.5
  • Deleterious:  score <= -2.5 (soft threshold)
Score:  
0
  [min -6, max 6]
  • Neutral:  score <= 0.8
  • Low impact:  0.8 < score <= 1.9
  • Medium impact:  1.9 < score <= 3.5
  • High impact:  score > 3.5
Score:  
0
  [min 0, max 1]
  • Neutral:  score > 0.6
  • Damaging:  score <= 0.6
Score:  
0
  [min 0, max 1]
  • Neutral:  score > 0.28
  • Damaging:  score <= 0.28
Phred score:  
0
  [min 0, max 35]
  • Neutral:  score < 20 (soft threshold)
  • Deleterious:  score >= 20
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Disease:  score >= 0.5
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Disease:  score >= 0.5
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Disease:  score >= 0.5
Score:  
0
  [min 0, max 1]
  • Polymorphism:  score < 0.5
  • Disease causing:  score >= 0.5
P-value:  
0
  [min 0, max 1]
  • Neutral:  p-value > 0.05
  • Pathogenic:  p-value <= 0.05
Score:  
0
  [min 0, max 1]
No hard-thresholds were indicated by authors (ref). Indicatively:
  • Neutral:  score < 0.9
  • Pathogenic:  score >= 0.9
No score. Categorical only
Please refer to Additional File 14: Table S10 for further details.
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.98
  • Deleterious:  score >= 0.98
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Disease:  score >= 0.5
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Deleterious:  score >= 0.5
Score:  
0
  [min -6, max 6]
  • Neutral:  score < 0
  • Deleterious:  score > 0
  • Inaccurate prediction:  score = 0
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Deleterious:  score >= 0.5
DS score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.43
  • Deleterious:  score >= 0.43
Pathogenicity score:  
0
  [min 0, max 1]
  • Neutral:  score ≤ 0.5
  • Pathogenic:  score > 0.5


Pathogenicity score for this variant:  
0
  [min 0, max 1]
ACMG-AMP curations for mitochondrial variants should use the raw scores. Standalone probabilities are shown below:
  • Benign:  score ≤ 0.062 (prob. ≤ 0.001)
  • Likely-benign:  0.062 < score ≤ 0.265 (0.001 < prob. ≤ 0.1)
  • Low-scoring VUS (VUS-):  0.265 < score ≤ 0.396 (0.1 < prob. ≤ 0.33)
  • VUS:  0.396 < score ≤ 0.544 (0.33 < prob. ≤ 0.66)
  • High-scoring VUS (VUS+):  0.544 < score < 0.716 (0.66 < prob. < 0.9)
  • Likely-pathogenic:  0.716 ≤ score < 0.907 (0.9 ≤ prob. < 0.99)
  • Pathogenic:  score ≥ 0.907 (prob. ≥ 0.99)
Score:  
0
  [min -5, max 5]
  • Low impact:  score <= -1 (soft threshold)
  • Medium impact:  -1 < score < 1.5 (soft threshold)
  • High impact:  score >= 1.5 (soft threshold)
Score:  
0
  [min -5, max 5]
  • Low impact:  score <= -1
  • Medium impact:  -1 < score < 2 (soft threshold)
  • High impact:  score >= 2 (soft threshold)
Score:  
0
  [min -5, max 5]
  • Low impact:  score <= -1
  • Medium impact:  -1 < score < 2 (soft threshold)
  • High impact:  score >= 2 (soft threshold)
P-value:  
0
  [min 0, max 1]
  • Neutral:  FDR > 0.2
  • Driver:  FDR <= 0.2
The frequency of a CPD variant is proportional to the
number of aligned orthologous sequences that
carry a specific human pathogenic variant as
wild-type amino acid on the total number of aligned
sequences.

For more info, please check the output legend