Chr |
chrM |
chrM |
Start |
6253 |
6253 |
End |
6253 |
6253 |
Ref |
T |
T |
Alt |
A |
C |
MitImpact id |
MI.2630 |
MI.2629 |
Gene symbol |
MT-CO1 |
MT-CO1 |
Respiratory Chain complex |
IV |
IV |
Ensembl gene id |
ENSG00000198804 |
ENSG00000198804 |
Ensembl protein id |
ENSP00000354499 |
ENSP00000354499 |
Ensembl transcript id |
ENST00000361624 |
ENST00000361624 |
Uniprot name |
COX1_HUMAN |
COX1_HUMAN |
Uniprot id |
P00395 |
P00395 |
Ncbi gene id |
4512 |
4512 |
Ncbi protein id |
YP_003024028.1 |
YP_003024028.1 |
Gene position |
350 |
350 |
AA position |
117 |
117 |
AA ref |
M |
M |
AA alt |
K |
T |
Codon substitution |
aTa/aAa |
aTa/aCa |
PhyloP 100V |
1.93161 |
1.93161 |
PhastCons 100V |
0.968504 |
0.968504 |
PolyPhen2 |
benign |
benign |
PolyPhen2 score |
0.01 |
0.0 |
SIFT |
neutral |
neutral |
SIFT score |
0.16 |
0.37 |
SIFT4G |
Tolerated |
Tolerated |
SIFT4G score |
0.063 |
0.321 |
FatHmm |
neutral |
neutral |
FatHmm score |
-2.07 |
-0.56 |
FatHmmW |
neutral |
neutral |
FatHmmW score |
2.76 |
2.79 |
PROVEAN |
deleterious |
neutral |
PROVEAN score |
-2.75 |
-2.08 |
MutationAssessor |
medium impact |
medium impact |
MutationAssessor score |
3.24 |
2.12 |
EFIN SP |
neutral |
neutral |
EFIN SP score |
0.66 |
0.79 |
EFIN HD |
neutral |
neutral |
EFIN HD score |
0.41 |
0.98 |
CADD |
neutral |
neutral |
CADD score |
0.69 |
-0.64 |
CADD phred |
8.75 |
0.1 |
VEST pvalue |
0.28 |
0.5 |
VEST FDR |
0.55 |
0.55 |
PANTHER |
disease |
neutral |
PANTHER score |
0.53 |
0.31 |
PhD-SNP |
disease |
neutral |
PhD-SNP score |
0.69 |
0.36 |
SNAP |
disease |
neutral |
SNAP score |
0.66 |
0.49 |
Meta-SNP |
disease |
neutral |
Meta-SNP score |
0.71 |
0.45 |
Meta-SNP RI |
4 |
1 |
CAROL |
neutral |
neutral |
CAROL score |
0.84 |
0.63 |
Condel |
deleterious |
deleterious |
Condel score |
0.58 |
0.69 |
COVEC WMV |
neutral |
neutral |
COVEC WMV score |
-3 |
-3 |
MtoolBox |
neutral |
neutral |
MtoolBox DS |
0.23 |
0.13 |
PolyPhen2 transf |
medium impact |
high impact |
PolyPhen2 transf score |
1.12 |
2.07 |
SIFT_transf |
medium impact |
medium impact |
SIFT transf score |
-0.21 |
0.06 |
MutationAssessor transf |
medium impact |
medium impact |
MutationAssessor transf score |
1.89 |
0.86 |
CHASM pvalue |
0.64 |
0.34 |
CHASM FDR |
0.9 |
0.9 |
APOGEE1 |
Pathogenic |
Pathogenic |
APOGEE1 score |
0.53 |
0.67 |
APOGEE2 |
VUS- |
Benign |
APOGEE2 score |
0.302163785176961 |
0.0529658508394979 |
SNPDryad score |
0.69 |
0.01 |
MutationTaster |
polymorphism |
polymorphism |
MutationTaster score |
1 |
1 |
DEOGEN2 score |
0.1 |
0.03 |
Mitoclass.1 |
damaging |
neutral |
dbSNP 155 id |
. |
rs200165736 |
ClinVar July2022 Variation id |
. |
. |
ClinVar July2022 CLNSIG |
. |
. |
ClinVar July2022 CLNDN |
. |
. |
ClinVar July2022 CLNDISDB |
. |
. |
COSMIC 90 |
. |
. |
MITOMAP Allele |
. |
T6253C |
MITOMAP Disease Het/Hom |
. |
+/- |
MITOMAP Disease Clinical info |
. |
Prostate Cancer / enriched in POAG cohort |
MITOMAP Disease Status |
. |
Reported |
MITOMAP Disease GenBank Freq |
. |
0.990%(0.000%) |
MITOMAP Disease GenBank Seqs |
. |
588 (0) |
MITOMAP Disease GenBank Curated refs |
. |
3 |
MITOMAP General GenBank Freq |
. |
0.0099 |
MITOMAP General GenBank Seqs |
. |
588 |
MITOMAP General Curated refs |
. |
12 |
gnomAD 3.1 filter |
. |
PASS |
gnomAD 3.1 AC Homo |
. |
656 |
gnomAD 3.1 AC Het |
. |
1 |
gnomAD 3.1 AF Hom |
. |
0.01162564 |
gnomAD 3.1 AF Het |
. |
0.000017722012 |
gnomAD 3.1 AN |
. |
56427 |
HelixMTdb AC Hom |
. |
997.0 |
HelixMTdb AF Hom |
. |
0.005087176 |
HelixMTdb AC Het |
. |
7.0 |
HelixMTdb AF Het |
. |
3.5717385e-05 |
HelixMTdb mean ARF |
. |
0.28737 |
HelixMTdb max ARF |
. |
0.66426 |
EVmutation |
. |
. |
Site A InterP |
CO1_117 |
CO1_117 |
Site B InterP |
CO2_86;CO3_60;CO2_99;CO3_50;CO3_179;CO3_49;CO3_27 |
CO2_86;CO3_60;CO2_99;CO3_50;CO3_179;CO3_49;CO3_27 |
Covariation Score InterP |
mfDCA_45.88;mfDCA_51.09;cMI_219.6501;cMI_182.4088;cMI_148.3078;cMI_140.3013;cMI_136.6273 |
mfDCA_45.88;mfDCA_51.09;cMI_219.6501;cMI_182.4088;cMI_148.3078;cMI_140.3013;cMI_136.6273 |
Site A IntraP |
CO1_117 |
CO1_117 |
Site B IntraP |
CO1_146;CO1_466;CO1_487;CO1_415 |
CO1_146;CO1_466;CO1_487;CO1_415 |
Covariation Score IntraP |
cMI_16.38525;mfDCA_26.3292;mfDCA_19.5539;mfDCA_17.6913 |
cMI_16.38525;mfDCA_26.3292;mfDCA_19.5539;mfDCA_17.6913 |
CPD AA ref |
. |
. |
CPD AA alt |
. |
. |
CPD Aln pos |
. |
. |
CPD Frequency |
. |
14.09 |
CPD Species name |
. |
. |
CPD RefSeq Protein ID |
. |
. |
CPD Ncbi Taxon id |
. |
. |
DDG intra |
MT-CO1:M117K:T415A:-0.697613:-0.55555:-0.0820799;MT-CO1:M117K:T415S:-0.682664:-0.55555:-0.0634344;MT-CO1:M117K:T415I:-1.48679:-0.55555:-0.826481;MT-CO1:M117K:T415P:2.84943:-0.55555:3.35363;MT-CO1:M117K:T415N:-0.823846:-0.55555:-0.192847;MT-CO1:M117K:M466L:-0.0518976:-0.55555:0.623379;MT-CO1:M117K:M466K:0.411581:-0.55555:1.04869;MT-CO1:M117K:M466I:0.233232:-0.55555:0.897034;MT-CO1:M117K:M466V:1.01906:-0.55555:1.64146;MT-CO1:M117K:M466T:0.623853:-0.55555:1.26183 |
MT-CO1:M117T:T415N:-0.205654:-0.0367906:-0.192847;MT-CO1:M117T:T415P:3.34764:-0.0367906:3.35363;MT-CO1:M117T:T415S:-0.0990778:-0.0367906:-0.0634344;MT-CO1:M117T:T415I:-0.857516:-0.0367906:-0.826481;MT-CO1:M117T:T415A:-0.113605:-0.0367906:-0.0820799;MT-CO1:M117T:M466K:1.06031:-0.0367906:1.04869;MT-CO1:M117T:M466V:1.60224:-0.0367906:1.64146;MT-CO1:M117T:M466T:1.22515:-0.0367906:1.26183;MT-CO1:M117T:M466I:0.865826:-0.0367906:0.897034;MT-CO1:M117T:M466L:0.586175:-0.0367906:0.623379 |
DDG intra interface |
. |
. |
DDG inter |
. |
. |