| MitImpact id |
MI.10093 |
MI.10091 |
MI.10092 |
| Chr |
chrM |
chrM |
chrM |
| Start |
15572 |
15572 |
15572 |
| Ref |
T |
T |
T |
| Alt |
G |
A |
C |
| Gene symbol |
MT-CYB |
MT-CYB |
MT-CYB |
| Extended annotation |
mitochondrially encoded cytochrome b |
mitochondrially encoded cytochrome b |
mitochondrially encoded cytochrome b |
| Gene position |
826 |
826 |
826 |
| Gene start |
14747 |
14747 |
14747 |
| Gene end |
15887 |
15887 |
15887 |
| Gene strand |
+ |
+ |
+ |
| Codon substitution |
TTC/GTC |
TTC/ATC |
TTC/CTC |
| AA position |
276 |
276 |
276 |
| AA ref |
F |
F |
F |
| AA alt |
V |
I |
L |
| Functional effect general |
missense |
missense |
missense |
| Functional effect detailed |
missense |
missense |
missense |
| OMIM id |
516020 |
516020 |
516020 |
| HGVS |
NC_012920.1:g.15572T>G |
NC_012920.1:g.15572T>A |
NC_012920.1:g.15572T>C |
| HGNC id |
7427 |
7427 |
7427 |
| Respiratory Chain complex |
III |
III |
III |
| Ensembl gene id |
ENSG00000198727 |
ENSG00000198727 |
ENSG00000198727 |
| Ensembl transcript id |
ENST00000361789 |
ENST00000361789 |
ENST00000361789 |
| Ensembl protein id |
ENSP00000354554 |
ENSP00000354554 |
ENSP00000354554 |
| Uniprot id |
P00156 |
P00156 |
P00156 |
| Uniprot name |
CYB_HUMAN |
CYB_HUMAN |
CYB_HUMAN |
| Ncbi gene id |
4519 |
4519 |
4519 |
| Ncbi protein id |
YP_003024038.1 |
YP_003024038.1 |
YP_003024038.1 |
| PhyloP 100V |
5.768 |
5.768 |
5.768 |
| PhyloP 470Way |
0.53 |
0.53 |
0.53 |
| PhastCons 100V |
1 |
1 |
1 |
| PhastCons 470Way |
0.947 |
0.947 |
0.947 |
| PolyPhen2 |
probably_damaging |
probably_damaging |
probably_damaging |
| PolyPhen2 score |
1 |
1 |
0.99 |
| SIFT |
neutral |
neutral |
neutral |
| SIFT score |
0.39 |
0.53 |
0.98 |
| SIFT4G |
Damaging |
Damaging |
Damaging |
| SIFT4G score |
0.0 |
0.006 |
0.017 |
| VEST |
Pathogenic |
Neutral |
Neutral |
| VEST pvalue |
0.05 |
0.08 |
0.09 |
| VEST FDR |
0.35 |
0.35 |
0.35 |
| Mitoclass.1 |
damaging |
damaging |
damaging |
| SNPDryad |
Pathogenic |
Pathogenic |
Pathogenic |
| SNPDryad score |
0.99 |
0.97 |
0.92 |
| MutationTaster |
. |
. |
. |
| MutationTaster score |
. |
. |
. |
| MutationTaster converted rankscore |
. |
. |
. |
| MutationTaster model |
. |
. |
. |
| MutationTaster AAE |
. |
. |
. |
| fathmm |
. |
. |
. |
| fathmm score |
. |
. |
. |
| fathmm converted rankscore |
. |
. |
. |
| AlphaMissense |
likely_pathogenic |
likely_pathogenic |
likely_pathogenic |
| AlphaMissense score |
0.7769 |
0.8201 |
0.9686 |
| CADD |
Deleterious |
Deleterious |
Deleterious |
| CADD score |
4.080104 |
4.284166 |
3.711503 |
| CADD phred |
23.7 |
24.0 |
23.3 |
| PROVEAN |
Damaging |
Damaging |
Damaging |
| PROVEAN score |
-4.85 |
-4.16 |
-4.15 |
| MutationAssessor |
high |
high |
medium |
| MutationAssessor score |
4.94 |
4.39 |
3.42 |
| EFIN SP |
Neutral |
Neutral |
Neutral |
| EFIN SP score |
0.882 |
0.874 |
0.918 |
| EFIN HD |
Damaging |
Damaging |
Damaging |
| EFIN HD score |
0.118 |
0.122 |
0.096 |
| MLC |
Deleterious |
Deleterious |
Deleterious |
| MLC score |
0.878327 |
0.878327 |
0.878327 |
| PANTHER score |
. |
. |
. |
| PhD-SNP score |
. |
. |
. |
| APOGEE1 |
Pathogenic |
Neutral |
Neutral |
| APOGEE1 score |
0.52 |
0.44 |
0.29 |
| APOGEE2 |
VUS |
VUS |
VUS- |
| APOGEE2 score |
0.521203668643496 |
0.509102250050612 |
0.352712580999947 |
| CAROL |
deleterious |
deleterious |
deleterious |
| CAROL score |
1.0 |
1.0 |
0.99 |
| Condel |
neutral |
neutral |
deleterious |
| Condel score |
0.2 |
0.27 |
0.5 |
| COVEC WMV |
deleterious |
deleterious |
deleterious |
| COVEC WMV score |
2 |
2 |
2 |
| MtoolBox |
deleterious |
deleterious |
deleterious |
| MtoolBox DS |
0.8 |
0.81 |
0.79 |
| DEOGEN2 |
. |
. |
. |
| DEOGEN2 score |
. |
. |
. |
| DEOGEN2 converted rankscore |
. |
. |
. |
| Meta-SNP |
. |
. |
. |
| Meta-SNP score |
. |
. |
. |
| PolyPhen2 transf |
low impact |
low impact |
low impact |
| PolyPhen2 transf score |
-3.53 |
-3.53 |
-2.59 |
| SIFT_transf |
medium impact |
medium impact |
medium impact |
| SIFT transf score |
0.12 |
0.25 |
1.14 |
| MutationAssessor transf |
high impact |
high impact |
high impact |
| MutationAssessor transf score |
2.89 |
2.89 |
2.35 |
| CHASM |
Neutral |
Neutral |
Neutral |
| CHASM pvalue |
0.31 |
0.47 |
0.51 |
| CHASM FDR |
0.8 |
0.8 |
0.8 |
| ClinVar id |
. |
. |
9677.0 |
| ClinVar Allele id |
. |
. |
24716.0 |
| ClinVar CLNDISDB |
. |
. |
MedGen:CN169374|MONDO:MONDO:0023113,MedGen:CN280943 |
| ClinVar CLNDN |
. |
. |
not_specified|Familial_colorectal_cancer |
| ClinVar CLNSIG |
. |
. |
Benign |
| 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 |
. |
. |
56429.0 |
| gnomAD 3.1 AC Homo |
. |
. |
0.0 |
| gnomAD 3.1 AF Hom |
. |
. |
0.0 |
| gnomAD 3.1 AC Het |
. |
. |
0.0 |
| gnomAD 3.1 AF Het |
. |
. |
0.0 |
| gnomAD 3.1 filter |
. |
. |
npg |
| HelixMTdb AC Hom |
. |
. |
0.0 |
| HelixMTdb AF Hom |
. |
. |
0.0 |
| HelixMTdb AC Het |
. |
. |
2.0 |
| HelixMTdb AF Het |
. |
. |
1.0204967e-05 |
| HelixMTdb mean ARF |
. |
. |
0.23892 |
| HelixMTdb max ARF |
. |
. |
0.39815 |
| ToMMo 54KJPN AC |
. |
. |
. |
| ToMMo 54KJPN AF |
. |
. |
. |
| ToMMo 54KJPN AN |
. |
. |
. |
| COSMIC 90 |
. |
. |
. |
| dbSNP 156 id |
. |
. |
. |
