MitImpact id |
MI.2153 |
MI.2152 |
MI.2154 |
Chr |
chrM |
chrM |
chrM |
Start |
6037 |
6037 |
6037 |
Ref |
G |
G |
G |
Alt |
A |
C |
T |
Gene symbol |
MT-CO1 |
MT-CO1 |
MT-CO1 |
Extended annotation |
mitochondrially encoded cytochrome c oxidase I |
mitochondrially encoded cytochrome c oxidase I |
mitochondrially encoded cytochrome c oxidase I |
Gene position |
134 |
134 |
134 |
Gene start |
5904 |
5904 |
5904 |
Gene end |
7445 |
7445 |
7445 |
Gene strand |
+ |
+ |
+ |
Codon substitution |
GGC/GAC |
GGC/GCC |
GGC/GTC |
AA position |
45 |
45 |
45 |
AA ref |
G |
G |
G |
AA alt |
D |
A |
V |
Functional effect general |
missense |
missense |
missense |
Functional effect detailed |
missense |
missense |
missense |
OMIM id |
516030 |
516030 |
516030 |
HGVS |
NC_012920.1:g.6037G>A |
NC_012920.1:g.6037G>C |
NC_012920.1:g.6037G>T |
HGNC id |
7419 |
7419 |
7419 |
Respiratory Chain complex |
IV |
IV |
IV |
Ensembl gene id |
ENSG00000198804 |
ENSG00000198804 |
ENSG00000198804 |
Ensembl transcript id |
ENST00000361624 |
ENST00000361624 |
ENST00000361624 |
Ensembl protein id |
ENSP00000354499 |
ENSP00000354499 |
ENSP00000354499 |
Uniprot id |
P00395 |
P00395 |
P00395 |
Uniprot name |
COX1_HUMAN |
COX1_HUMAN |
COX1_HUMAN |
Ncbi gene id |
4512 |
4512 |
4512 |
Ncbi protein id |
YP_003024028.1 |
YP_003024028.1 |
YP_003024028.1 |
PhyloP 100V |
7.712 |
7.712 |
7.712 |
PhyloP 470Way |
0.602 |
0.602 |
0.602 |
PhastCons 100V |
1 |
1 |
1 |
PhastCons 470Way |
0.003 |
0.003 |
0.003 |
PolyPhen2 |
probably_damaging |
probably_damaging |
probably_damaging |
PolyPhen2 score |
1.0 |
1.0 |
1.0 |
SIFT |
deleterious |
deleterious |
deleterious |
SIFT score |
0.01 |
0.0 |
0.0 |
SIFT4G |
Damaging |
Damaging |
Damaging |
SIFT4G score |
0.005 |
0.003 |
0.0 |
VEST |
Neutral |
Neutral |
Neutral |
VEST pvalue |
0.28 |
0.35 |
0.27 |
VEST FDR |
0.55 |
0.55 |
0.55 |
Mitoclass.1 |
damaging |
damaging |
damaging |
SNPDryad |
Pathogenic |
Neutral |
Pathogenic |
SNPDryad score |
0.97 |
0.64 |
0.93 |
MutationTaster |
Disease |
Disease |
Disease |
MutationTaster score |
1 |
1 |
1 |
MutationTaster converted rankscore |
0.81001 |
0.81001 |
0.81001 |
MutationTaster model |
simple_aae |
simple_aae |
simple_aae |
MutationTaster AAE |
G45D |
G45A |
G45V |
fathmm |
Tolerated |
Tolerated |
Tolerated |
fathmm score |
2.81 |
2.73 |
2.68 |
fathmm converted rankscore |
0.10975 |
0.11839 |
0.12371 |
AlphaMissense |
likely_pathogenic |
likely_pathogenic |
likely_pathogenic |
AlphaMissense score |
0.7736 |
0.5691 |
0.8151 |
CADD |
Deleterious |
Deleterious |
Deleterious |
CADD score |
3.741365 |
3.015189 |
3.661647 |
CADD phred |
23.3 |
22.3 |
23.2 |
PROVEAN |
Damaging |
Damaging |
Damaging |
PROVEAN score |
-4.03 |
-3.5 |
-5.31 |
MutationAssessor |
medium |
high |
high |
MutationAssessor score |
3.385 |
3.975 |
4.495 |
EFIN SP |
Damaging |
Damaging |
Damaging |
EFIN SP score |
0.376 |
0.576 |
0.492 |
EFIN HD |
Damaging |
Damaging |
Damaging |
EFIN HD score |
0.022 |
0.048 |
0.032 |
MLC |
Deleterious |
Deleterious |
Deleterious |
MLC score |
0.52224033 |
0.52224033 |
0.52224033 |
PANTHER score |
. |
. |
. |
PhD-SNP score |
. |
. |
. |
APOGEE1 |
Pathogenic |
Neutral |
Neutral |
APOGEE1 score |
0.63 |
0.41 |
0.5 |
APOGEE2 |
VUS+ |
VUS |
VUS+ |
APOGEE2 score |
0.570597779734725 |
0.516519847178979 |
0.591665524144533 |
CAROL |
deleterious |
deleterious |
deleterious |
CAROL score |
1.0 |
1.0 |
1.0 |
Condel |
neutral |
neutral |
neutral |
Condel score |
0.01 |
0.0 |
0.0 |
COVEC WMV |
deleterious |
deleterious |
deleterious |
COVEC WMV score |
6 |
6 |
6 |
MtoolBox |
deleterious |
deleterious |
deleterious |
MtoolBox DS |
0.83 |
0.85 |
0.89 |
DEOGEN2 |
Tolerated |
Tolerated |
Tolerated |
DEOGEN2 score |
0.110539 |
0.117021 |
0.148145 |
DEOGEN2 converted rankscore |
0.42532 |
0.43679 |
0.48656 |
Meta-SNP |
. |
. |
. |
Meta-SNP score |
. |
. |
. |
PolyPhen2 transf |
low impact |
low impact |
low impact |
PolyPhen2 transf score |
-3.58 |
-3.58 |
-3.58 |
SIFT_transf |
medium impact |
low impact |
low impact |
SIFT transf score |
-0.92 |
-1.48 |
-1.48 |
MutationAssessor transf |
high impact |
high impact |
high impact |
MutationAssessor transf score |
2.38 |
2.43 |
3.17 |
CHASM |
Neutral |
Neutral |
Neutral |
CHASM pvalue |
0.44 |
0.6 |
0.5 |
CHASM FDR |
0.9 |
0.9 |
0.9 |
ClinVar id |
692608.0 |
. |
. |
ClinVar Allele id |
681144.0 |
. |
. |
ClinVar CLNDISDB |
MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:506 |
. |
. |
ClinVar CLNDN |
Leigh_syndrome |
. |
. |
ClinVar CLNSIG |
Uncertain_significance |
. |
. |
MITOMAP Disease Clinical info |
. |
. |
. |
MITOMAP Disease Status |
. |
. |
. |
MITOMAP Disease Hom/Het |
./. |
./. |
./. |
MITOMAP General GenBank Freq |
0.0% |
. |
. |
MITOMAP General GenBank Seqs |
0 |
. |
. |
MITOMAP General Curated refs |
. |
. |
. |
MITOMAP Variant Class |
polymorphism |
. |
. |
gnomAD 3.1 AN |
56425.0 |
. |
. |
gnomAD 3.1 AC Homo |
0.0 |
. |
. |
gnomAD 3.1 AF Hom |
0.0 |
. |
. |
gnomAD 3.1 AC Het |
1.0 |
. |
. |
gnomAD 3.1 AF Het |
1.77226e-05 |
. |
. |
gnomAD 3.1 filter |
PASS |
. |
. |
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 |
. |
. |
ToMMo 54KJPN AC |
. |
. |
. |
ToMMo 54KJPN AF |
. |
. |
. |
ToMMo 54KJPN AN |
. |
. |
. |
COSMIC 90 |
. |
. |
. |
dbSNP 156 id |
rs1603220237 |
. |
. |