| MitImpact id |
MI.5315 |
MI.5314 |
MI.5316 |
| Chr |
chrM |
chrM |
chrM |
| Start |
7650 |
7650 |
7650 |
| Ref |
C |
C |
C |
| Alt |
G |
A |
T |
| 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/AGC |
ACC/AAC |
ACC/ATC |
| AA position |
22 |
22 |
22 |
| AA ref |
T |
T |
T |
| AA alt |
S |
N |
I |
| Functional effect general |
missense |
missense |
missense |
| Functional effect detailed |
missense |
missense |
missense |
| OMIM id |
516040 |
516040 |
516040 |
| HGVS |
NC_012920.1:g.7650C>G |
NC_012920.1:g.7650C>A |
NC_012920.1:g.7650C>T |
| 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 |
0.41 |
0.3 |
0.44 |
| SIFT4G |
Tolerated |
Damaging |
Damaging |
| SIFT4G score |
0.081 |
0.048 |
0.016 |
| VEST |
Neutral |
Neutral |
Neutral |
| VEST pvalue |
0.43 |
0.44 |
0.41 |
| VEST FDR |
0.55 |
0.55 |
0.5 |
| Mitoclass.1 |
damaging |
neutral |
damaging |
| SNPDryad |
Neutral |
Neutral |
Neutral |
| SNPDryad score |
0.13 |
0.0 |
0.02 |
| 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 |
T22S |
T22N |
T22I |
| 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 |
0.1017 |
0.1128 |
0.1821 |
| CADD |
Neutral |
Neutral |
Neutral |
| CADD score |
0.232488 |
1.604834 |
1.871982 |
| CADD phred |
5.018 |
13.88 |
15.42 |
| PROVEAN |
Tolerated |
Tolerated |
Tolerated |
| PROVEAN score |
0.69 |
1.93 |
-0.95 |
| MutationAssessor |
neutral |
neutral |
neutral |
| MutationAssessor score |
-1.21 |
-1.115 |
-0.55 |
| EFIN SP |
Neutral |
Neutral |
Neutral |
| EFIN SP score |
0.864 |
0.748 |
0.826 |
| EFIN HD |
Neutral |
Neutral |
Neutral |
| EFIN HD score |
0.954 |
0.96 |
0.832 |
| 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 |
0.0238766501367886 |
0.0399324863383711 |
0.0345041479067476 |
| CAROL |
neutral |
neutral |
neutral |
| CAROL score |
0.59 |
0.67 |
0.56 |
| Condel |
deleterious |
deleterious |
deleterious |
| Condel score |
0.71 |
0.61 |
0.72 |
| COVEC WMV |
neutral |
neutral |
neutral |
| COVEC WMV score |
-6 |
-6 |
-6 |
| MtoolBox |
neutral |
neutral |
neutral |
| MtoolBox DS |
0.14 |
0.18 |
0.17 |
| DEOGEN2 |
Tolerated |
Tolerated |
Tolerated |
| DEOGEN2 score |
0.003995 |
0.004234 |
0.022414 |
| DEOGEN2 converted rankscore |
0.03403 |
0.03640 |
0.17287 |
| 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 |
0.12 |
0 |
0.15 |
| MutationAssessor transf |
low impact |
low impact |
low impact |
| MutationAssessor transf score |
-1.83 |
-2.04 |
-1.39 |
| CHASM |
Neutral |
Neutral |
Neutral |
| CHASM pvalue |
0.75 |
0.78 |
0.7 |
| 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 |
0.0016% |
. |
0.0049% |
| MITOMAP General GenBank Seqs |
1 |
. |
3 |
| 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 |