Chr |
chrM |
chrM |
chrM |
chrM |
chrM |
chrM |
Start |
10680 |
10680 |
10680 |
10681 |
10681 |
10681 |
End |
10680 |
10680 |
10680 |
10681 |
10681 |
10681 |
Ref |
G |
G |
G |
C |
C |
C |
Alt |
A |
T |
C |
T |
G |
A |
MitImpact id |
MI.16139 |
MI.16140 |
MI.16141 |
MI.16142 |
MI.16143 |
MI.16144 |
Gene symbol |
MT-ND4L |
MT-ND4L |
MT-ND4L |
MT-ND4L |
MT-ND4L |
MT-ND4L |
Respiratory Chain complex |
I |
I |
I |
I |
I |
I |
Ensembl gene id |
ENSG00000212907 |
ENSG00000212907 |
ENSG00000212907 |
ENSG00000212907 |
ENSG00000212907 |
ENSG00000212907 |
Ensembl protein id |
ENSP00000354728 |
ENSP00000354728 |
ENSP00000354728 |
ENSP00000354728 |
ENSP00000354728 |
ENSP00000354728 |
Ensembl transcript id |
ENST00000361335 |
ENST00000361335 |
ENST00000361335 |
ENST00000361335 |
ENST00000361335 |
ENST00000361335 |
Uniprot name |
NU4LM_HUMAN |
NU4LM_HUMAN |
NU4LM_HUMAN |
NU4LM_HUMAN |
NU4LM_HUMAN |
NU4LM_HUMAN |
Uniprot id |
P03901 |
P03901 |
P03901 |
P03901 |
P03901 |
P03901 |
Ncbi gene id |
4539 |
4539 |
4539 |
4539 |
4539 |
4539 |
Ncbi protein id |
YP_003024034.1 |
YP_003024034.1 |
YP_003024034.1 |
YP_003024034.1 |
YP_003024034.1 |
YP_003024034.1 |
Gene position |
211 |
211 |
211 |
212 |
212 |
212 |
AA position |
71 |
71 |
71 |
71 |
71 |
71 |
AA ref |
A |
A |
A |
A |
A |
A |
AA alt |
T |
S |
P |
V |
G |
E |
Codon substitution |
Gca/Aca |
Gca/Tca |
Gca/Cca |
gCa/gTa |
gCa/gGa |
gCa/gAa |
PhyloP 100V |
0.06 |
0.06 |
0.06 |
5.13 |
5.13 |
5.13 |
PhastCons 100V |
0.94 |
0.94 |
0.94 |
1 |
1 |
1 |
PolyPhen2 |
benign |
possibly_damaging |
probably_damaging |
possibly_damaging |
benign |
possibly_damaging |
PolyPhen2 score |
0.05 |
0.64 |
0.95 |
0.75 |
0.08 |
0.87 |
SIFT |
neutral |
neutral |
neutral |
neutral |
neutral |
neutral |
SIFT score |
0.09 |
0.25 |
0.07 |
0.27 |
0.51 |
0.26 |
FatHmm |
neutral |
neutral |
deleterious |
neutral |
neutral |
deleterious |
FatHmm score |
-2.9 |
-2.15 |
-4.58 |
-1.64 |
-2.09 |
-3.8 |
FatHmmW |
neutral |
neutral |
neutral |
neutral |
neutral |
neutral |
FatHmmW score |
1.94 |
1.76 |
1.67 |
1.77 |
1.72 |
1.7 |
PROVEAN |
deleterious |
neutral |
deleterious |
deleterious |
deleterious |
deleterious |
PROVEAN score |
-2.98 |
-2.47 |
-4.46 |
-3.53 |
-3.44 |
-4.46 |
MutationAssessor |
high impact |
medium impact |
high impact |
high impact |
low impact |
high impact |
MutationAssessor score |
3.99 |
2.92 |
4.54 |
4.2 |
1.84 |
4.54 |
EFIN SP |
neutral |
neutral |
damaging |
neutral |
neutral |
neutral |
EFIN SP score |
0.72 |
0.65 |
0.56 |
0.65 |
0.67 |
0.61 |
EFIN HD |
neutral |
neutral |
neutral |
neutral |
neutral |
neutral |
EFIN HD score |
0.6 |
0.39 |
0.29 |
0.29 |
0.46 |
0.36 |
CADD |
deleterious |
deleterious |
deleterious |
deleterious |
deleterious |
deleterious |
CADD score |
2.35 |
2.17 |
3.83 |
4.12 |
2.04 |
4.4 |
CADD phred |
18.51 |
17.33 |
23.4 |
23.8 |
16.46 |
24.1 |
VEST pvalue |
0.38 |
0.48 |
0.23 |
0.44 |
0.4 |
0.17 |
VEST FDR |
0.5 |
0.55 |
0.45 |
0.55 |
0.5 |
0.45 |
PANTHER |
disease |
neutral |
disease |
disease |
neutral |
disease |
PANTHER score |
0.5 |
0.43 |
0.71 |
0.61 |
0.21 |
0.6 |
PhD-SNP |
disease |
disease |
disease |
disease |
disease |
disease |
PhD-SNP score |
0.89 |
0.94 |
0.96 |
0.92 |
0.92 |
0.95 |
SNAP |
disease |
disease |
disease |
disease |
neutral |
disease |
SNAP score |
0.59 |
0.58 |
0.75 |
0.63 |
0.44 |
0.71 |
Meta-SNP |
disease |
disease |
disease |
disease |
disease |
disease |
Meta-SNP score |
0.57 |
0.77 |
0.89 |
0.75 |
0.73 |
0.86 |
Meta-SNP RI |
1 |
5 |
8 |
5 |
5 |
7 |
CAROL |
neutral |
neutral |
deleterious |
neutral |
neutral |
neutral |
CAROL score |
0.9 |
0.77 |
0.99 |
0.82 |
0.42 |
0.9 |
Condel |
deleterious |
neutral |
neutral |
neutral |
deleterious |
neutral |
Condel score |
0.52 |
0.31 |
0.06 |
0.26 |
0.72 |
0.2 |
COVEC WMV |
neutral |
. |
deleterious |
deleterious |
neutral |
deleterious |
COVEC WMV score |
-2 |
0 |
2 |
1 |
-6 |
1 |
MtoolBox |
neutral |
deleterious |
deleterious |
deleterious |
neutral |
deleterious |
MtoolBox DS |
0.31 |
0.68 |
0.86 |
0.7 |
0.23 |
0.82 |
PolyPhen2 transf |
medium impact |
low impact |
low impact |
low impact |
medium impact |
low impact |
PolyPhen2 transf score |
0.37 |
-1.03 |
-1.97 |
-1.24 |
0.17 |
-1.56 |
SIFT_transf |
medium impact |
medium impact |
medium impact |
medium impact |
medium impact |
medium impact |
SIFT transf score |
-0.35 |
-0.06 |
-0.41 |
-0.03 |
0.22 |
-0.04 |
MutationAssessor transf |
high impact |
medium impact |
high impact |
high impact |
medium impact |
high impact |
MutationAssessor transf score |
2.21 |
1.31 |
2.67 |
2.38 |
0.4 |
2.67 |
CHASM pvalue |
0.7 |
0.64 |
0.58 |
0.69 |
0.73 |
0.51 |
CHASM FDR |
0.85 |
0.8 |
0.8 |
0.85 |
0.85 |
0.8 |
APOGEE |
VUS |
VUS |
VUS |
Likely-pathogenic |
VUS |
Likely-pathogenic |
APOGEE score |
0.366809803095136 |
0.5958319974534148 |
0.6961668172622094 |
0.8130411694442441 |
0.5265678747479918 |
0.8051483513826309 |
SNPDryad score |
0.02 |
0.63 |
0.86 |
0.58 |
0.63 |
0.84 |
MutationTaster |
disease_causing |
disease_causing |
disease_causing |
disease_causing |
disease_causing |
disease_causing |
MutationTaster score |
0.97 |
0.94 |
0.99 |
1 |
1 |
1 |
DEOGEN2 score |
0.18 |
0.18 |
0.4 |
0.18 |
0.17 |
0.4 |
Mitoclass.1 |
damaging |
neutral |
damaging |
damaging |
neutral |
damaging |
dbSNP 155 id |
rs1603222945 |
. |
. |
. |
. |
. |
ClinVar October2021 Variation id |
. |
. |
. |
. |
. |
. |
ClinVar October2021 CLNSIG |
. |
. |
. |
. |
. |
. |
ClinVar October2021 CLNDN |
. |
. |
. |
. |
. |
. |
ClinVar October2021 CLNDISDB |
. |
. |
. |
. |
. |
. |
COSMIC 90 |
. |
. |
. |
. |
. |
. |
MITOMAP Allele |
G10680A |
. |
. |
. |
. |
. |
MITOMAP Disease Het/Hom |
+/- |
. |
. |
. |
. |
. |
MITOMAP Disease Clinical info |
LHON / synergistic combo 10680A + 12033G + 14258A |
. |
. |
. |
. |
. |
MITOMAP Disease Status |
Reported / possibly synergistic |
. |
. |
. |
. |
. |
MITOMAP Disease GenBank Freq |
0.000% |
. |
. |
. |
. |
. |
MITOMAP Disease GenBank Seqs |
17 (0) |
. |
. |
. |
. |
. |
MITOMAP Disease GenBank Curated refs |
4 |
. |
. |
. |
. |
. |
MITOMAP General GenBank Freq |
0.030% |
. |
. |
. |
. |
. |
MITOMAP General GenBank Seqs |
17 |
. |
. |
. |
. |
. |
MITOMAP General Curated refs |
2 |
. |
. |
. |
. |
. |
gnomAD 3.1 filter |
PASS |
. |
. |
. |
. |
. |
gnomAD 3.1 AC Homo |
12 |
. |
. |
. |
. |
. |
gnomAD 3.1 AC Het |
8 |
. |
. |
. |
. |
. |
gnomAD 3.1 AF Hom |
0.00021267922 |
. |
. |
. |
. |
. |
gnomAD 3.1 AF Het |
0.00014178615 |
. |
. |
. |
. |
. |
gnomAD 3.1 AN |
56423 |
. |
. |
. |
. |
. |
HelixMTdb AC Hom |
45 |
. |
. |
. |
. |
. |
HelixMTdb AF Hom |
0.00022961175 |
. |
. |
. |
. |
. |
HelixMTdb AC Het |
14 |
. |
. |
. |
. |
. |
HelixMTdb AF Het |
7.143477e-05 |
. |
. |
. |
. |
. |
HelixMTdb mean ARF |
0.37275 |
. |
. |
. |
. |
. |
HelixMTdb max ARF |
0.86538 |
. |
. |
. |
. |
. |
EVmutation |
MT-ND4L_71A|72A:0.268189;78L:0.182623;89Y:0.106321;95L:0.099561;73V:0.086635;74G:0.080875;84T:0.07685;79V:0.07611;93L:0.069507 |
MT-ND4L_71A|72A:0.268189;78L:0.182623;89Y:0.106321;95L:0.099561;73V:0.086635;74G:0.080875;84T:0.07685;79V:0.07611;93L:0.069507 |
MT-ND4L_71A|72A:0.268189;78L:0.182623;89Y:0.106321;95L:0.099561;73V:0.086635;74G:0.080875;84T:0.07685;79V:0.07611;93L:0.069507 |
MT-ND4L_71A|72A:0.268189;78L:0.182623;89Y:0.106321;95L:0.099561;73V:0.086635;74G:0.080875;84T:0.07685;79V:0.07611;93L:0.069507 |
MT-ND4L_71A|72A:0.268189;78L:0.182623;89Y:0.106321;95L:0.099561;73V:0.086635;74G:0.080875;84T:0.07685;79V:0.07611;93L:0.069507 |
MT-ND4L_71A|72A:0.268189;78L:0.182623;89Y:0.106321;95L:0.099561;73V:0.086635;74G:0.080875;84T:0.07685;79V:0.07611;93L:0.069507 |
Site A InterP |
ND4L_71 |
ND4L_71 |
ND4L_71 |
ND4L_71 |
ND4L_71 |
ND4L_71 |
Site B InterP |
ND2_22;ND2_100;ND4_213;ND5_359;ND6_123;ND6_55;ND6_65;ND6_7;ND1_72;ND3_74;ND3_46;ND3_49;ND3_21;ND4_246;ND5_480;ND5_374;ND5_71;ND5_463;ND5_434;ND5_286 |
ND2_22;ND2_100;ND4_213;ND5_359;ND6_123;ND6_55;ND6_65;ND6_7;ND1_72;ND3_74;ND3_46;ND3_49;ND3_21;ND4_246;ND5_480;ND5_374;ND5_71;ND5_463;ND5_434;ND5_286 |
ND2_22;ND2_100;ND4_213;ND5_359;ND6_123;ND6_55;ND6_65;ND6_7;ND1_72;ND3_74;ND3_46;ND3_49;ND3_21;ND4_246;ND5_480;ND5_374;ND5_71;ND5_463;ND5_434;ND5_286 |
ND2_22;ND2_100;ND4_213;ND5_359;ND6_123;ND6_55;ND6_65;ND6_7;ND1_72;ND3_74;ND3_46;ND3_49;ND3_21;ND4_246;ND5_480;ND5_374;ND5_71;ND5_463;ND5_434;ND5_286 |
ND2_22;ND2_100;ND4_213;ND5_359;ND6_123;ND6_55;ND6_65;ND6_7;ND1_72;ND3_74;ND3_46;ND3_49;ND3_21;ND4_246;ND5_480;ND5_374;ND5_71;ND5_463;ND5_434;ND5_286 |
ND2_22;ND2_100;ND4_213;ND5_359;ND6_123;ND6_55;ND6_65;ND6_7;ND1_72;ND3_74;ND3_46;ND3_49;ND3_21;ND4_246;ND5_480;ND5_374;ND5_71;ND5_463;ND5_434;ND5_286 |
Covariation Score InterP |
mfDCA_23.18;mfDCA_20.68;mfDCA_56.89;mfDCA_40.06;mfDCA_24.34;mfDCA_23.58;mfDCA_20.28;mfDCA_18.1;cMI_47.69801;cMI_21.87539;cMI_17.95862;cMI_15.97979;cMI_13.66699;cMI_22.40959;cMI_57.53787;cMI_56.37417;cMI_51.73458;cMI_50.99827;cMI_50.4083;cMI_48.16303 |
mfDCA_23.18;mfDCA_20.68;mfDCA_56.89;mfDCA_40.06;mfDCA_24.34;mfDCA_23.58;mfDCA_20.28;mfDCA_18.1;cMI_47.69801;cMI_21.87539;cMI_17.95862;cMI_15.97979;cMI_13.66699;cMI_22.40959;cMI_57.53787;cMI_56.37417;cMI_51.73458;cMI_50.99827;cMI_50.4083;cMI_48.16303 |
mfDCA_23.18;mfDCA_20.68;mfDCA_56.89;mfDCA_40.06;mfDCA_24.34;mfDCA_23.58;mfDCA_20.28;mfDCA_18.1;cMI_47.69801;cMI_21.87539;cMI_17.95862;cMI_15.97979;cMI_13.66699;cMI_22.40959;cMI_57.53787;cMI_56.37417;cMI_51.73458;cMI_50.99827;cMI_50.4083;cMI_48.16303 |
mfDCA_23.18;mfDCA_20.68;mfDCA_56.89;mfDCA_40.06;mfDCA_24.34;mfDCA_23.58;mfDCA_20.28;mfDCA_18.1;cMI_47.69801;cMI_21.87539;cMI_17.95862;cMI_15.97979;cMI_13.66699;cMI_22.40959;cMI_57.53787;cMI_56.37417;cMI_51.73458;cMI_50.99827;cMI_50.4083;cMI_48.16303 |
mfDCA_23.18;mfDCA_20.68;mfDCA_56.89;mfDCA_40.06;mfDCA_24.34;mfDCA_23.58;mfDCA_20.28;mfDCA_18.1;cMI_47.69801;cMI_21.87539;cMI_17.95862;cMI_15.97979;cMI_13.66699;cMI_22.40959;cMI_57.53787;cMI_56.37417;cMI_51.73458;cMI_50.99827;cMI_50.4083;cMI_48.16303 |
mfDCA_23.18;mfDCA_20.68;mfDCA_56.89;mfDCA_40.06;mfDCA_24.34;mfDCA_23.58;mfDCA_20.28;mfDCA_18.1;cMI_47.69801;cMI_21.87539;cMI_17.95862;cMI_15.97979;cMI_13.66699;cMI_22.40959;cMI_57.53787;cMI_56.37417;cMI_51.73458;cMI_50.99827;cMI_50.4083;cMI_48.16303 |
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-ND4L:MT-ND6:5lc5:K:J:A71T:T71K:0.0875:-0.234632105:0.349819183;MT-ND4L:MT-ND6:5lc5:K:J:A71T:T71S:0.2707:-0.234632105:0.545650125;MT-ND4L:MT-ND6:5lc5:K:J:A71T:T71M:0.03951:-0.234632105:0.272438824;MT-ND4L:MT-ND6:5lc5:K:J:A71T:T71P:0.23344:-0.234632105:0.521499276;MT-ND4L:MT-ND6:5lc5:K:J:A71T:T71A:0.22846:-0.234632105:0.462280273;MT-ND4L:MT-ND6:5ldw:K:J:A71T:T71K:0.06819:-0.196310431:0.330052197;MT-ND4L:MT-ND6:5ldw:K:J:A71T:T71S:0.19323:-0.196310431:0.506391168;MT-ND4L:MT-ND6:5ldw:K:J:A71T:T71M:0.03124:-0.196310431:0.330003351;MT-ND4L:MT-ND6:5ldw:K:J:A71T:T71P:0.29108:-0.196310431:0.499993145;MT-ND4L:MT-ND6:5ldw:K:J:A71T:T71A:0.15385:-0.196310431:0.443702698;MT-ND4L:MT-ND6:5ldx:K:J:A71T:T71K:-0.18584:-0.633990109:0.38250047;MT-ND4L:MT-ND6:5ldx:K:J:A71T:T71S:-0.07485:-0.633990109:0.496649563;MT-ND4L:MT-ND6:5ldx:K:J:A71T:T71M:-0.11459:-0.633990109:0.38127023;MT-ND4L:MT-ND6:5ldx:K:J:A71T:T71P:-0.24866:-0.633990109:0.374649823;MT-ND4L:MT-ND6:5ldx:K:J:A71T:T71A:-0.21315:-0.633990109:0.337310016 |
MT-ND4L:MT-ND6:5lc5:K:J:A71S:T71K:0.05905:0.0984386429:0.349819183;MT-ND4L:MT-ND6:5lc5:K:J:A71S:T71S:0.60418:0.0984386429:0.545650125;MT-ND4L:MT-ND6:5lc5:K:J:A71S:T71M:0.33742:0.0984386429:0.272438824;MT-ND4L:MT-ND6:5lc5:K:J:A71S:T71A:0.55369:0.0984386429:0.462280273;MT-ND4L:MT-ND6:5lc5:K:J:A71S:T71P:0.71729:0.0984386429:0.521499276;MT-ND4L:MT-ND6:5ldw:K:J:A71S:T71K:0.41987:0.0573913567:0.330052197;MT-ND4L:MT-ND6:5ldw:K:J:A71S:T71S:0.6229:0.0573913567:0.506391168;MT-ND4L:MT-ND6:5ldw:K:J:A71S:T71M:0.44635:0.0573913567:0.330003351;MT-ND4L:MT-ND6:5ldw:K:J:A71S:T71A:0.52161:0.0573913567:0.443702698;MT-ND4L:MT-ND6:5ldw:K:J:A71S:T71P:0.57588:0.0573913567:0.499993145;MT-ND4L:MT-ND6:5ldx:K:J:A71S:T71K:-0.23114:-0.592829108:0.38250047;MT-ND4L:MT-ND6:5ldx:K:J:A71S:T71S:-0.13127:-0.592829108:0.496649563;MT-ND4L:MT-ND6:5ldx:K:J:A71S:T71M:-0.24956:-0.592829108:0.38127023;MT-ND4L:MT-ND6:5ldx:K:J:A71S:T71A:-0.28049:-0.592829108:0.337310016;MT-ND4L:MT-ND6:5ldx:K:J:A71S:T71P:-0.23925:-0.592829108:0.374649823 |
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