news model
license
| ~ | 14462 (G/T) | 14462 (G/A) | 14463 (T/G) | 14463 (T/C) | 14463 (T/A) |
|---|---|---|---|---|---|
| ~ | 14462 (aCa/aAa) | 14462 (aCa/aTa) | 14463 (Aca/Cca) | 14463 (Aca/Gca) | 14463 (Aca/Tca) |
| 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 | MT-ND6:MT-ND4L:5lc5:J:K:T71S:A71T:0.2707:0.545650125:-0.234632105;MT-ND6:MT-ND4L:5lc5:J:K:T71S:A71E:1.48238:0.545650125:1.10695875;MT-ND6:MT-ND4L:5lc5:J:K:T71S:A71S:0.60418:0.545650125:0.0984386429;MT-ND6:MT-ND4L:5lc5:J:K:T71S:A71P:0.67734:0.545650125:0.18503876;MT-ND6:MT-ND4L:5lc5:J:K:T71S:A71G:0.92094:0.545650125:0.47907868;MT-ND6:MT-ND4L:5lc5:J:K:T71S:A71V:-0.27984:0.545650125:-0.85572207;MT-ND6:MT-ND4L:5ldw:J:K:T71S:A71T:0.19323:0.506391168:-0.196310431;MT-ND6:MT-ND4L:5ldw:J:K:T71S:A71E:1.26368:0.506391168:0.799778759;MT-ND6:MT-ND4L:5ldw:J:K:T71S:A71S:0.6229:0.506391168:0.0573913567;MT-ND6:MT-ND4L:5ldw:J:K:T71S:A71P:0.59015:0.506391168:0.117359921;MT-ND6:MT-ND4L:5ldw:J:K:T71S:A71G:0.74623:0.506391168:0.278140247;MT-ND6:MT-ND4L:5ldw:J:K:T71S:A71V:-0.1642:0.506391168:-0.60515976;MT-ND6:MT-ND4L:5ldx:J:K:T71S:A71T:-0.07485:0.496649563:-0.633990109;MT-ND6:MT-ND4L:5ldx:J:K:T71S:A71E:1.90631:0.496649563:1.14978099;MT-ND6:MT-ND4L:5ldx:J:K:T71S:A71S:-0.13127:0.496649563:-0.592829108;MT-ND6:MT-ND4L:5ldx:J:K:T71S:A71P:0.75052:0.496649563:0.28040123;MT-ND6:MT-ND4L:5ldx:J:K:T71S:A71G:1.10989:0.496649563:0.612800598;MT-ND6:MT-ND4L:5ldx:J:K:T71S:A71V:-0.68776:0.496649563:-1.18210983 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