Chr |
chrM |
chrM |
chrM |
chrM |
chrM |
Start |
14462 |
14462 |
14463 |
14463 |
14463 |
End |
14462 |
14462 |
14463 |
14463 |
14463 |
Ref |
G |
G |
T |
T |
T |
Alt |
T |
A |
G |
C |
A |
MitImpact id |
MI.23744 |
MI.23745 |
MI.23746 |
MI.23747 |
MI.23748 |
Gene symbol |
MT-ND6 |
MT-ND6 |
MT-ND6 |
MT-ND6 |
MT-ND6 |
Respiratory Chain complex |
I |
I |
I |
I |
I |
Ensembl gene id |
ENSG00000198695 |
ENSG00000198695 |
ENSG00000198695 |
ENSG00000198695 |
ENSG00000198695 |
Ensembl protein id |
ENSP00000354665 |
ENSP00000354665 |
ENSP00000354665 |
ENSP00000354665 |
ENSP00000354665 |
Ensembl transcript id |
ENST00000361681 |
ENST00000361681 |
ENST00000361681 |
ENST00000361681 |
ENST00000361681 |
Uniprot name |
NU6M_HUMAN |
NU6M_HUMAN |
NU6M_HUMAN |
NU6M_HUMAN |
NU6M_HUMAN |
Uniprot id |
P03923 |
P03923 |
P03923 |
P03923 |
P03923 |
Ncbi gene id |
4541 |
4541 |
4541 |
4541 |
4541 |
Ncbi protein id |
YP_003024037.1 |
YP_003024037.1 |
YP_003024037.1 |
YP_003024037.1 |
YP_003024037.1 |
Gene position |
212 |
212 |
211 |
211 |
211 |
AA position |
71 |
71 |
71 |
71 |
71 |
AA ref |
T |
T |
T |
T |
T |
AA alt |
K |
M |
P |
A |
S |
Codon substitution |
aCa/aAa |
aCa/aTa |
Aca/Cca |
Aca/Gca |
Aca/Tca |
PhyloP 100V |
-12.43 |
-12.43 |
2.02 |
2.02 |
2.02 |
PhastCons 100V |
0 |
0 |
0.06 |
0.06 |
0.06 |
PolyPhen2 |
possibly_damaging |
benign |
possibly_damaging |
benign |
benign |
PolyPhen2 score |
0.58 |
0.26 |
0.82 |
0.02 |
0.37 |
SIFT |
neutral |
neutral |
neutral |
neutral |
neutral |
SIFT score |
0.27 |
0.21 |
0.16 |
1 |
0.77 |
FatHmm |
deleterious |
neutral |
deleterious |
neutral |
neutral |
FatHmm score |
-3.01 |
-1.45 |
-3.05 |
-0.24 |
0.28 |
FatHmmW |
neutral |
neutral |
neutral |
neutral |
neutral |
FatHmmW score |
2.21 |
2.24 |
2.21 |
2.3 |
2.35 |
PROVEAN |
deleterious |
deleterious |
deleterious |
deleterious |
deleterious |
PROVEAN score |
-5.29 |
-5.17 |
-5.29 |
-3.79 |
-3.32 |
MutationAssessor |
medium impact |
medium impact |
medium impact |
neutral impact |
medium impact |
MutationAssessor score |
3.33 |
3.33 |
3.33 |
0.23 |
2.23 |
EFIN SP |
neutral |
neutral |
neutral |
neutral |
neutral |
EFIN SP score |
0.69 |
0.66 |
0.7 |
0.91 |
0.81 |
EFIN HD |
neutral |
neutral |
neutral |
neutral |
neutral |
EFIN HD score |
0.33 |
0.38 |
0.28 |
0.93 |
0.72 |
CADD |
deleterious |
deleterious |
deleterious |
neutral |
deleterious |
CADD score |
3.66 |
1.85 |
3.63 |
-0.05 |
1.9 |
CADD phred |
23.2 |
15.3 |
23.2 |
2.09 |
15.57 |
VEST pvalue |
0.16 |
0.26 |
0.15 |
0.32 |
0.37 |
VEST FDR |
0.45 |
0.45 |
0.4 |
0.5 |
0.5 |
PANTHER |
neutral |
disease |
disease |
neutral |
neutral |
PANTHER score |
0.46 |
0.61 |
0.58 |
0.15 |
0.2 |
PhD-SNP |
disease |
disease |
disease |
neutral |
disease |
PhD-SNP score |
0.87 |
0.73 |
0.91 |
0.18 |
0.64 |
SNAP |
disease |
disease |
disease |
neutral |
neutral |
SNAP score |
0.73 |
0.67 |
0.73 |
0.25 |
0.33 |
Meta-SNP |
disease |
disease |
disease |
neutral |
neutral |
Meta-SNP score |
0.82 |
0.75 |
0.84 |
0.28 |
0.48 |
Meta-SNP RI |
6 |
5 |
7 |
4 |
0 |
CAROL |
neutral |
neutral |
neutral |
neutral |
neutral |
CAROL score |
0.73 |
0.75 |
0.91 |
0.01 |
0.26 |
Condel |
neutral |
deleterious |
neutral |
deleterious |
deleterious |
Condel score |
0.35 |
0.48 |
0.17 |
0.99 |
0.7 |
COVEC WMV |
. |
neutral |
. |
neutral |
neutral |
COVEC WMV score |
0 |
-3 |
0 |
-6 |
-3 |
MtoolBox |
deleterious |
neutral |
deleterious |
neutral |
deleterious |
MtoolBox DS |
0.68 |
0.42 |
0.82 |
0.13 |
0.45 |
PolyPhen2 transf |
medium impact |
medium impact |
low impact |
medium impact |
medium impact |
PolyPhen2 transf score |
-0.92 |
-0.38 |
-1.4 |
0.75 |
-0.58 |
SIFT_transf |
medium impact |
medium impact |
medium impact |
high impact |
medium impact |
SIFT transf score |
-0.03 |
-0.11 |
-0.19 |
1.87 |
0.5 |
MutationAssessor transf |
medium impact |
medium impact |
medium impact |
medium impact |
medium impact |
MutationAssessor transf score |
1.65 |
1.65 |
1.65 |
-0.95 |
0.73 |
CHASM pvalue |
0.87 |
0.86 |
0.77 |
0.62 |
0.79 |
CHASM FDR |
0.9 |
0.9 |
0.85 |
0.8 |
0.85 |
APOGEE |
VUS |
VUS |
VUS |
Benign |
Likely-benign |
APOGEE score |
0.5473027258937022 |
0.4972787369137314 |
0.6861200065974422 |
0.0348437504216969 |
0.1597027507502233 |
SNPDryad score |
0.94 |
0.9 |
0.94 |
0.65 |
0.68 |
MutationTaster |
. |
. |
. |
. |
. |
MutationTaster score |
. |
. |
. |
. |
. |
DEOGEN2 score |
0.73 |
0.6 |
0.73 |
0.52 |
0.52 |
Mitoclass.1 |
damaging |
damaging |
damaging |
neutral |
neutral |
dbSNP 155 id |
. |
. |
. |
. |
. |
ClinVar October2021 Variation id |
. |
. |
. |
. |
. |
ClinVar October2021 CLNSIG |
. |
. |
. |
. |
. |
ClinVar October2021 CLNDN |
. |
. |
. |
. |
. |
ClinVar October2021 CLNDISDB |
. |
. |
. |
. |
. |
COSMIC 90 |
. |
. |
. |
. |
. |
MITOMAP Allele |
. |
. |
. |
. |
. |
MITOMAP Disease Het/Hom |
. |
. |
. |
. |
. |
MITOMAP Disease Clinical info |
. |
. |
. |
. |
. |
MITOMAP Disease Status |
. |
. |
. |
. |
. |
MITOMAP Disease GenBank Freq |
. |
. |
. |
. |
. |
MITOMAP Disease GenBank Seqs |
. |
. |
. |
. |
. |
MITOMAP Disease GenBank Curated refs |
. |
. |
. |
. |
. |
MITOMAP General GenBank Freq |
. |
0.002% |
0.002% |
0.002% |
. |
MITOMAP General GenBank Seqs |
. |
1 |
1 |
1 |
. |
MITOMAP General Curated refs |
. |
1 |
1 |
1 |
. |
gnomAD 3.1 filter |
. |
PASS |
. |
PASS |
. |
gnomAD 3.1 AC Homo |
. |
2 |
. |
2 |
. |
gnomAD 3.1 AC Het |
. |
4 |
. |
1 |
. |
gnomAD 3.1 AF Hom |
. |
3.5445282e-05 |
. |
3.5441513e-05 |
. |
gnomAD 3.1 AF Het |
. |
7.0890565e-05 |
. |
1.7720757e-05 |
. |
gnomAD 3.1 AN |
. |
56425 |
. |
56431 |
. |
HelixMTdb AC Hom |
. |
3 |
. |
15 |
. |
HelixMTdb AF Hom |
. |
1.530745e-05 |
. |
7.653725e-05 |
. |
HelixMTdb AC Het |
. |
7 |
. |
5 |
. |
HelixMTdb AF Het |
. |
3.5717385e-05 |
. |
2.5512418e-05 |
. |
HelixMTdb mean ARF |
. |
0.31758 |
. |
0.36579 |
. |
HelixMTdb max ARF |
. |
0.86145 |
. |
0.79137 |
. |
EVmutation |
MT-ND6_71T|77E:0.191034;76E:0.185333;75I:0.115309;79P:0.072124;72A:0.066189 |
MT-ND6_71T|77E:0.191034;76E:0.185333;75I:0.115309;79P:0.072124;72A:0.066189 |
MT-ND6_71T|77E:0.191034;76E:0.185333;75I:0.115309;79P:0.072124;72A:0.066189 |
MT-ND6_71T|77E:0.191034;76E:0.185333;75I:0.115309;79P:0.072124;72A:0.066189 |
MT-ND6_71T|77E:0.191034;76E:0.185333;75I:0.115309;79P:0.072124;72A:0.066189 |
Site A InterP |
ND6_71 |
ND6_71 |
ND6_71 |
ND6_71 |
ND6_71 |
Site B InterP |
ND1_150;ND4L_58 |
ND1_150;ND4L_58 |
ND1_150;ND4L_58 |
ND1_150;ND4L_58 |
ND1_150;ND4L_58 |
Covariation Score InterP |
mfDCA_22.42;mfDCA_18.95 |
mfDCA_22.42;mfDCA_18.95 |
mfDCA_22.42;mfDCA_18.95 |
mfDCA_22.42;mfDCA_18.95 |
mfDCA_22.42;mfDCA_18.95 |
Site A IntraP |
. |
. |
. |
. |
. |
Site B IntraP |
. |
. |
. |
. |
. |
Covariation Score IntraP |
. |
. |
. |
. |
. |
CPD AA ref |
. |
. |
. |
. |
. |
CPD AA alt |
. |
. |
. |
. |
. |
CPD Aln pos |
. |
. |
. |
. |
. |
CPD Frequency |
. |
. |
. |
. |
. |
CPD Species name |
. |
. |
. |
. |
. |
CPD RefSeq Protein ID |
. |
. |
. |
. |
. |
CPD Ncbi Taxon id |
. |
. |
. |
. |
. |
DDG intra |
. |
. |
. |
. |
. |
DDG intra interface |
. |
. |
. |
. |
. |
DDG inter |
MT-ND6:MT-ND4L:5lc5:J:K:T71K:A71E:1.20206:0.349819183:1.10695875;MT-ND6:MT-ND4L:5lc5:J:K:T71K:A71T:0.0875:0.349819183:-0.234632105;MT-ND6:MT-ND4L:5lc5:J:K:T71K:A71V:-0.51587:0.349819183:-0.85572207;MT-ND6:MT-ND4L:5lc5:J:K:T71K:A71S:0.05905:0.349819183:0.0984386429;MT-ND6:MT-ND4L:5lc5:J:K:T71K:A71G:0.72669:0.349819183:0.47907868;MT-ND6:MT-ND4L:5lc5:J:K:T71K:A71P:0.53301:0.349819183:0.18503876;MT-ND6:MT-ND4L:5ldw:J:K:T71K:A71E:0.92579:0.330052197:0.799778759;MT-ND6:MT-ND4L:5ldw:J:K:T71K:A71T:0.06819:0.330052197:-0.196310431;MT-ND6:MT-ND4L:5ldw:J:K:T71K:A71V:-0.3223:0.330052197:-0.60515976;MT-ND6:MT-ND4L:5ldw:J:K:T71K:A71S:0.41987:0.330052197:0.0573913567;MT-ND6:MT-ND4L:5ldw:J:K:T71K:A71G:0.58838:0.330052197:0.278140247;MT-ND6:MT-ND4L:5ldw:J:K:T71K:A71P:0.44585:0.330052197:0.117359921;MT-ND6:MT-ND4L:5ldx:J:K:T71K:A71E:1.89528:0.38250047:1.14978099;MT-ND6:MT-ND4L:5ldx:J:K:T71K:A71T:-0.18584:0.38250047:-0.633990109;MT-ND6:MT-ND4L:5ldx:J:K:T71K:A71V:-0.76177:0.38250047:-1.18210983;MT-ND6:MT-ND4L:5ldx:J:K:T71K:A71S:-0.23114:0.38250047:-0.592829108;MT-ND6:MT-ND4L:5ldx:J:K:T71K:A71G:1.02073:0.38250047:0.612800598;MT-ND6:MT-ND4L:5ldx:J:K:T71K:A71P:0.64698:0.38250047:0.28040123 |
MT-ND6:MT-ND4L:5lc5:J:K:T71M:A71G:0.57344:0.272438824:0.47907868;MT-ND6:MT-ND4L:5lc5:J:K:T71M:A71T:0.03951:0.272438824:-0.234632105;MT-ND6:MT-ND4L:5lc5:J:K:T71M:A71P:0.44657:0.272438824:0.18503876;MT-ND6:MT-ND4L:5lc5:J:K:T71M:A71S:0.33742:0.272438824:0.0984386429;MT-ND6:MT-ND4L:5lc5:J:K:T71M:A71V:-0.5836:0.272438824:-0.85572207;MT-ND6:MT-ND4L:5lc5:J:K:T71M:A71E:1.21359:0.272438824:1.10695875;MT-ND6:MT-ND4L:5ldw:J:K:T71M:A71G:0.5724:0.330003351:0.278140247;MT-ND6:MT-ND4L:5ldw:J:K:T71M:A71T:0.03124:0.330003351:-0.196310431;MT-ND6:MT-ND4L:5ldw:J:K:T71M:A71P:0.41534:0.330003351:0.117359921;MT-ND6:MT-ND4L:5ldw:J:K:T71M:A71S:0.44635:0.330003351:0.0573913567;MT-ND6:MT-ND4L:5ldw:J:K:T71M:A71V:-0.33601:0.330003351:-0.60515976;MT-ND6:MT-ND4L:5ldw:J:K:T71M:A71E:1.13745:0.330003351:0.799778759;MT-ND6:MT-ND4L:5ldx:J:K:T71M:A71G:0.99472:0.38127023:0.612800598;MT-ND6:MT-ND4L:5ldx:J:K:T71M:A71T:-0.11459:0.38127023:-0.633990109;MT-ND6:MT-ND4L:5ldx:J:K:T71M:A71P:0.63739:0.38127023:0.28040123;MT-ND6:MT-ND4L:5ldx:J:K:T71M:A71S:-0.24956:0.38127023:-0.592829108;MT-ND6:MT-ND4L:5ldx:J:K:T71M:A71V:-0.81334:0.38127023:-1.18210983;MT-ND6:MT-ND4L:5ldx:J:K:T71M:A71E:1.85701:0.38127023:1.14978099 |
MT-ND6:MT-ND4L:5lc5:J:K:T71P:A71G:0.85927:0.521499276:0.47907868;MT-ND6:MT-ND4L:5lc5:J:K:T71P:A71V:-0.31524:0.521499276:-0.85572207;MT-ND6:MT-ND4L:5lc5:J:K:T71P:A71E:1.48224:0.521499276:1.10695875;MT-ND6:MT-ND4L:5lc5:J:K:T71P:A71P:0.73229:0.521499276:0.18503876;MT-ND6:MT-ND4L:5lc5:J:K:T71P:A71T:0.23344:0.521499276:-0.234632105;MT-ND6:MT-ND4L:5lc5:J:K:T71P:A71S:0.71729:0.521499276:0.0984386429;MT-ND6:MT-ND4L:5ldw:J:K:T71P:A71G:0.7762:0.499993145:0.278140247;MT-ND6:MT-ND4L:5ldw:J:K:T71P:A71V:-0.07942:0.499993145:-0.60515976;MT-ND6:MT-ND4L:5ldw:J:K:T71P:A71E:1.45455:0.499993145:0.799778759;MT-ND6:MT-ND4L:5ldw:J:K:T71P:A71P:0.6621:0.499993145:0.117359921;MT-ND6:MT-ND4L:5ldw:J:K:T71P:A71T:0.29108:0.499993145:-0.196310431;MT-ND6:MT-ND4L:5ldw:J:K:T71P:A71S:0.57588:0.499993145:0.0573913567;MT-ND6:MT-ND4L:5ldx:J:K:T71P:A71G:0.9902:0.374649823:0.612800598;MT-ND6:MT-ND4L:5ldx:J:K:T71P:A71V:-0.80963:0.374649823:-1.18210983;MT-ND6:MT-ND4L:5ldx:J:K:T71P:A71E:1.84041:0.374649823:1.14978099;MT-ND6:MT-ND4L:5ldx:J:K:T71P:A71P:0.58679:0.374649823:0.28040123;MT-ND6:MT-ND4L:5ldx:J:K:T71P:A71T:-0.24866:0.374649823:-0.633990109;MT-ND6:MT-ND4L:5ldx:J:K:T71P:A71S:-0.23925:0.374649823:-0.592829108 |
MT-ND6:MT-ND4L:5lc5:J:K:T71A:A71V:-0.39334:0.462280273:-0.85572207;MT-ND6:MT-ND4L:5lc5:J:K:T71A:A71P:0.64721:0.462280273:0.18503876;MT-ND6:MT-ND4L:5lc5:J:K:T71A:A71S:0.55369:0.462280273:0.0984386429;MT-ND6:MT-ND4L:5lc5:J:K:T71A:A71T:0.22846:0.462280273:-0.234632105;MT-ND6:MT-ND4L:5lc5:J:K:T71A:A71G:0.80792:0.462280273:0.47907868;MT-ND6:MT-ND4L:5lc5:J:K:T71A:A71E:1.59815:0.462280273:1.10695875;MT-ND6:MT-ND4L:5ldw:J:K:T71A:A71V:-0.20614:0.443702698:-0.60515976;MT-ND6:MT-ND4L:5ldw:J:K:T71A:A71P:0.51735:0.443702698:0.117359921;MT-ND6:MT-ND4L:5ldw:J:K:T71A:A71S:0.52161:0.443702698:0.0573913567;MT-ND6:MT-ND4L:5ldw:J:K:T71A:A71T:0.15385:0.443702698:-0.196310431;MT-ND6:MT-ND4L:5ldw:J:K:T71A:A71G:0.67433:0.443702698:0.278140247;MT-ND6:MT-ND4L:5ldw:J:K:T71A:A71E:1.18736:0.443702698:0.799778759;MT-ND6:MT-ND4L:5ldx:J:K:T71A:A71V:-0.84686:0.337310016:-1.18210983;MT-ND6:MT-ND4L:5ldx:J:K:T71A:A71P:0.62069:0.337310016:0.28040123;MT-ND6:MT-ND4L:5ldx:J:K:T71A:A71S:-0.28049:0.337310016:-0.592829108;MT-ND6:MT-ND4L:5ldx:J:K:T71A:A71T:-0.21315:0.337310016:-0.633990109;MT-ND6:MT-ND4L:5ldx:J:K:T71A:A71G:0.95238:0.337310016:0.612800598;MT-ND6:MT-ND4L:5ldx:J:K:T71A:A71E:1.63535:0.337310016:1.14978099 |
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