MitImpact id |
MI.8544 |
MI.8543 |
MI.8542 |
Chr |
chrM |
chrM |
chrM |
Start |
14849 |
14849 |
14849 |
Ref |
T |
T |
T |
Alt |
C |
A |
G |
Gene symbol |
MT-CYB |
MT-CYB |
MT-CYB |
Extended annotation |
mitochondrially encoded cytochrome b |
mitochondrially encoded cytochrome b |
mitochondrially encoded cytochrome b |
Gene position |
103 |
103 |
103 |
Gene start |
14747 |
14747 |
14747 |
Gene end |
15887 |
15887 |
15887 |
Gene strand |
+ |
+ |
+ |
Codon substitution |
TCA/CCA |
TCA/ACA |
TCA/GCA |
AA position |
35 |
35 |
35 |
AA ref |
S |
S |
S |
AA alt |
P |
T |
A |
Functional effect general |
missense |
missense |
missense |
Functional effect detailed |
missense |
missense |
missense |
OMIM id |
516020 |
516020 |
516020 |
HGVS |
NC_012920.1:g.14849T>C |
NC_012920.1:g.14849T>A |
NC_012920.1:g.14849T>G |
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 |
5.739 |
5.739 |
5.739 |
PhyloP 470Way |
0.666 |
0.666 |
0.666 |
PhastCons 100V |
1 |
1 |
1 |
PhastCons 470Way |
0.944 |
0.944 |
0.944 |
PolyPhen2 |
probably_damaging |
possibly_damaging |
probably_damaging |
PolyPhen2 score |
0.98 |
0.86 |
0.92 |
SIFT |
neutral |
neutral |
neutral |
SIFT score |
0.2 |
0.39 |
0.5 |
SIFT4G |
Damaging |
Damaging |
Damaging |
SIFT4G score |
0.001 |
0.0 |
0.001 |
VEST |
Pathogenic |
Neutral |
Neutral |
VEST pvalue |
0.05 |
0.21 |
0.17 |
VEST FDR |
0.35 |
0.45 |
0.45 |
Mitoclass.1 |
damaging |
damaging |
damaging |
SNPDryad |
Pathogenic |
Neutral |
Neutral |
SNPDryad score |
1.0 |
0.7 |
0.46 |
MutationTaster |
. |
. |
. |
MutationTaster score |
. |
. |
. |
MutationTaster converted rankscore |
. |
. |
. |
MutationTaster model |
. |
. |
. |
MutationTaster AAE |
. |
. |
. |
fathmm |
. |
. |
. |
fathmm score |
. |
. |
. |
fathmm converted rankscore |
. |
. |
. |
AlphaMissense |
likely_pathogenic |
ambiguous |
likely_benign |
AlphaMissense score |
0.7622 |
0.358 |
0.3389 |
CADD |
Neutral |
Neutral |
Neutral |
CADD score |
2.030595 |
1.724784 |
1.672383 |
CADD phred |
16.41 |
14.55 |
14.25 |
PROVEAN |
Damaging |
Tolerated |
Tolerated |
PROVEAN score |
-3.71 |
-2.23 |
-2.22 |
MutationAssessor |
high |
high |
medium |
MutationAssessor score |
4.57 |
4.57 |
3.265 |
EFIN SP |
Neutral |
Neutral |
Neutral |
EFIN SP score |
0.932 |
0.862 |
0.878 |
EFIN HD |
Damaging |
Damaging |
Damaging |
EFIN HD score |
0.052 |
0.1 |
0.14 |
MLC |
Deleterious |
Deleterious |
Deleterious |
MLC score |
0.54825276 |
0.54825276 |
0.54825276 |
PANTHER score |
. |
. |
. |
PhD-SNP score |
. |
. |
. |
APOGEE1 |
Pathogenic |
Pathogenic |
Neutral |
APOGEE1 score |
0.74 |
0.62 |
0.27 |
APOGEE2 |
Likely-pathogenic |
VUS |
VUS- |
APOGEE2 score |
0.870561634442856 |
0.454124720475434 |
0.28023182248624 |
CAROL |
deleterious |
neutral |
neutral |
CAROL score |
0.99 |
0.87 |
0.91 |
Condel |
neutral |
neutral |
neutral |
Condel score |
0.11 |
0.27 |
0.29 |
COVEC WMV |
deleterious |
deleterious |
deleterious |
COVEC WMV score |
2 |
1 |
2 |
MtoolBox |
deleterious |
deleterious |
deleterious |
MtoolBox DS |
0.85 |
0.74 |
0.67 |
DEOGEN2 |
. |
. |
. |
DEOGEN2 score |
. |
. |
. |
DEOGEN2 converted rankscore |
. |
. |
. |
Meta-SNP |
. |
. |
. |
Meta-SNP score |
. |
. |
. |
PolyPhen2 transf |
low impact |
low impact |
low impact |
PolyPhen2 transf score |
-2.31 |
-1.47 |
-1.72 |
SIFT_transf |
medium impact |
medium impact |
medium impact |
SIFT transf score |
-0.1 |
0.12 |
0.22 |
MutationAssessor transf |
high impact |
high impact |
high impact |
MutationAssessor transf score |
3.12 |
3.43 |
2.44 |
CHASM |
Neutral |
Neutral |
Neutral |
CHASM pvalue |
0.34 |
0.68 |
0.57 |
CHASM FDR |
0.8 |
0.85 |
0.8 |
ClinVar id |
9685.0 |
. |
. |
ClinVar Allele id |
24724.0 |
. |
. |
ClinVar CLNDISDB |
MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:68380|MedGen:C4016599|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:506 |
. |
. |
ClinVar CLNDN |
Mitochondrial_disease|Exercise_intolerance,_cardiomyopathy,_and_septooptic_dysplasia|Leigh_syndrome |
. |
. |
ClinVar CLNSIG |
Uncertain_significance |
. |
. |
MITOMAP Disease Clinical info |
EXIT / Septo-Optic Dysplasia |
. |
. |
MITOMAP Disease Status |
Cfrm [VUS*] |
. |
. |
MITOMAP Disease Hom/Het |
-/+ |
./. |
./. |
MITOMAP General GenBank Freq |
0.0% |
. |
. |
MITOMAP General GenBank Seqs |
0 |
. |
. |
MITOMAP General Curated refs |
20544923;21457906;11891837 |
. |
. |
MITOMAP Variant Class |
disease |
. |
. |
gnomAD 3.1 AN |
56431.0 |
. |
. |
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 |
. |
. |
. |
HelixMTdb AF Hom |
. |
. |
. |
HelixMTdb AC Het |
. |
. |
. |
HelixMTdb AF Het |
. |
. |
. |
HelixMTdb mean ARF |
. |
. |
. |
HelixMTdb max ARF |
. |
. |
. |
ToMMo 54KJPN AC |
. |
. |
. |
ToMMo 54KJPN AF |
. |
. |
. |
ToMMo 54KJPN AN |
. |
. |
. |
COSMIC 90 |
. |
. |
. |
dbSNP 156 id |
. |
. |
. |