MitImpact id |
MI.5316 |
MI.5314 |
MI.5315 |
Chr |
chrM |
chrM |
chrM |
Start |
7650 |
7650 |
7650 |
Ref |
C |
C |
C |
Alt |
T |
A |
G |
Gene symbol |
MT-CO2 |
MT-CO2 |
MT-CO2 |
Extended annotation |
mitochondrially encoded cytochrome c oxidase II |
mitochondrially encoded cytochrome c oxidase II |
mitochondrially encoded cytochrome c oxidase II |
Gene position |
65 |
65 |
65 |
Gene start |
7586 |
7586 |
7586 |
Gene end |
8269 |
8269 |
8269 |
Gene strand |
+ |
+ |
+ |
Codon substitution |
ACC/ATC |
ACC/AAC |
ACC/AGC |
AA position |
22 |
22 |
22 |
AA ref |
T |
T |
T |
AA alt |
I |
N |
S |
Functional effect general |
missense |
missense |
missense |
Functional effect detailed |
missense |
missense |
missense |
OMIM id |
516040 |
516040 |
516040 |
HGVS |
NC_012920.1:g.7650C>T |
NC_012920.1:g.7650C>A |
NC_012920.1:g.7650C>G |
HGNC id |
7421 |
7421 |
7421 |
Respiratory Chain complex |
IV |
IV |
IV |
Ensembl gene id |
ENSG00000198712 |
ENSG00000198712 |
ENSG00000198712 |
Ensembl transcript id |
ENST00000361739 |
ENST00000361739 |
ENST00000361739 |
Ensembl protein id |
ENSP00000354876 |
ENSP00000354876 |
ENSP00000354876 |
Uniprot id |
P00403 |
P00403 |
P00403 |
Uniprot name |
COX2_HUMAN |
COX2_HUMAN |
COX2_HUMAN |
Ncbi gene id |
4513 |
4513 |
4513 |
Ncbi protein id |
YP_003024029.1 |
YP_003024029.1 |
YP_003024029.1 |
PhyloP 100V |
2.386 |
2.386 |
2.386 |
PhyloP 470Way |
-1.108 |
-1.108 |
-1.108 |
PhastCons 100V |
0.005 |
0.005 |
0.005 |
PhastCons 470Way |
0.079 |
0.079 |
0.079 |
PolyPhen2 |
benign |
benign |
benign |
PolyPhen2 score |
0.0 |
0.08 |
0.0 |
SIFT |
neutral |
neutral |
neutral |
SIFT score |
0.44 |
0.3 |
0.41 |
SIFT4G |
Damaging |
Damaging |
Tolerated |
SIFT4G score |
0.016 |
0.048 |
0.081 |
VEST |
Neutral |
Neutral |
Neutral |
VEST pvalue |
0.41 |
0.44 |
0.43 |
VEST FDR |
0.5 |
0.55 |
0.55 |
Mitoclass.1 |
damaging |
neutral |
damaging |
SNPDryad |
Neutral |
Neutral |
Neutral |
SNPDryad score |
0.02 |
0.0 |
0.13 |
MutationTaster |
Polymorphism |
Polymorphism |
Polymorphism |
MutationTaster score |
1 |
1 |
1 |
MutationTaster converted rankscore |
0.08975 |
0.08975 |
0.08975 |
MutationTaster model |
simple_aae |
simple_aae |
simple_aae |
MutationTaster AAE |
T22I |
T22N |
T22S |
fathmm |
Tolerated |
Tolerated |
Tolerated |
fathmm score |
1.6 |
1.59 |
1.6 |
fathmm converted rankscore |
0.28604 |
0.28836 |
0.28604 |
AlphaMissense |
likely_benign |
likely_benign |
likely_benign |
AlphaMissense score |
0.1821 |
0.1128 |
0.1017 |
CADD |
Neutral |
Neutral |
Neutral |
CADD score |
1.871982 |
1.604834 |
0.232488 |
CADD phred |
15.42 |
13.88 |
5.018 |
PROVEAN |
Tolerated |
Tolerated |
Tolerated |
PROVEAN score |
-0.95 |
1.93 |
0.69 |
MutationAssessor |
neutral |
neutral |
neutral |
MutationAssessor score |
-0.55 |
-1.115 |
-1.21 |
EFIN SP |
Neutral |
Neutral |
Neutral |
EFIN SP score |
0.826 |
0.748 |
0.864 |
EFIN HD |
Neutral |
Neutral |
Neutral |
EFIN HD score |
0.832 |
0.96 |
0.954 |
MLC |
Neutral |
Neutral |
Neutral |
MLC score |
0.22520973 |
0.22520973 |
0.22520973 |
PANTHER score |
. |
. |
. |
PhD-SNP score |
. |
. |
. |
APOGEE1 |
Neutral |
Neutral |
Neutral |
APOGEE1 score |
0.31 |
0.41 |
0.31 |
APOGEE2 |
Benign |
Benign |
Benign |
APOGEE2 score |
0.0345041479067476 |
0.0399324863383711 |
0.0238766501367886 |
CAROL |
neutral |
neutral |
neutral |
CAROL score |
0.56 |
0.67 |
0.59 |
Condel |
deleterious |
deleterious |
deleterious |
Condel score |
0.72 |
0.61 |
0.71 |
COVEC WMV |
neutral |
neutral |
neutral |
COVEC WMV score |
-6 |
-6 |
-6 |
MtoolBox |
neutral |
neutral |
neutral |
MtoolBox DS |
0.17 |
0.18 |
0.14 |
DEOGEN2 |
Tolerated |
Tolerated |
Tolerated |
DEOGEN2 score |
0.022414 |
0.004234 |
0.003995 |
DEOGEN2 converted rankscore |
0.17287 |
0.03640 |
0.03403 |
Meta-SNP |
. |
. |
. |
Meta-SNP score |
. |
. |
. |
PolyPhen2 transf |
high impact |
medium impact |
high impact |
PolyPhen2 transf score |
2.08 |
0.27 |
2.08 |
SIFT_transf |
medium impact |
medium impact |
medium impact |
SIFT transf score |
0.15 |
0 |
0.12 |
MutationAssessor transf |
low impact |
low impact |
low impact |
MutationAssessor transf score |
-1.39 |
-2.04 |
-1.83 |
CHASM |
Neutral |
Neutral |
Neutral |
CHASM pvalue |
0.7 |
0.78 |
0.75 |
CHASM FDR |
0.85 |
0.85 |
0.85 |
ClinVar id |
692754.0 |
. |
. |
ClinVar Allele id |
681290.0 |
. |
. |
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 |
0.0049% |
. |
0.0016% |
MITOMAP General GenBank Seqs |
3 |
. |
1 |
MITOMAP General Curated refs |
18682780 |
. |
. |
MITOMAP Variant Class |
polymorphism |
. |
polymorphism |
gnomAD 3.1 AN |
56432.0 |
. |
. |
gnomAD 3.1 AC Homo |
3.0 |
. |
. |
gnomAD 3.1 AF Hom |
5.31613e-05 |
. |
. |
gnomAD 3.1 AC Het |
0.0 |
. |
. |
gnomAD 3.1 AF Het |
0.0 |
. |
. |
gnomAD 3.1 filter |
PASS |
. |
. |
HelixMTdb AC Hom |
11.0 |
. |
. |
HelixMTdb AF Hom |
5.6127315e-05 |
. |
. |
HelixMTdb AC Het |
2.0 |
. |
. |
HelixMTdb AF Het |
1.0204967e-05 |
. |
. |
HelixMTdb mean ARF |
0.64167 |
. |
. |
HelixMTdb max ARF |
0.75 |
. |
. |
ToMMo 54KJPN AC |
. |
. |
. |
ToMMo 54KJPN AF |
. |
. |
. |
ToMMo 54KJPN AN |
. |
. |
. |
COSMIC 90 |
. |
. |
. |
dbSNP 156 id |
rs1603221063 |
. |
. |