| ~ | 14469 (A/G) | 14469 (A/C) | 14469 (A/T) |
|---|---|---|---|
| ~ | 14469 (TAT/CAT) | 14469 (TAT/GAT) | 14469 (TAT/AAT) |
| MitImpact id | MI.23758 | MI.23759 | MI.23760 |
| Chr | chrM | chrM | chrM |
| Start | 14469 | 14469 | 14469 |
| Ref | A | A | A |
| Alt | G | C | T |
| Gene symbol | MT-ND6 | MT-ND6 | MT-ND6 |
| Extended annotation | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
| Gene position | 205 | 205 | 205 |
| Gene start | 14149 | 14149 | 14149 |
| Gene end | 14673 | 14673 | 14673 |
| Gene strand | - | - | - |
| Codon substitution | TAT/CAT | TAT/GAT | TAT/AAT |
| AA position | 69 | 69 | 69 |
| AA ref | Y | Y | Y |
| AA alt | H | D | N |
| Functional effect general | missense | missense | missense |
| Functional effect detailed | missense | missense | missense |
| OMIM id | 516006 | 516006 | 516006 |
| HGVS | NC_012920.1:g.14469A>G | NC_012920.1:g.14469A>C | NC_012920.1:g.14469A>T |
| HGNC id | 7462 | 7462 | 7462 |
| Respiratory Chain complex | I | I | I |
| Ensembl gene id | ENSG00000198695 | ENSG00000198695 | ENSG00000198695 |
| Ensembl transcript id | ENST00000361681 | ENST00000361681 | ENST00000361681 |
| Ensembl protein id | ENSP00000354665 | ENSP00000354665 | ENSP00000354665 |
| Uniprot id | P03923 | P03923 | P03923 |
| Uniprot name | NU6M_HUMAN | NU6M_HUMAN | NU6M_HUMAN |
| Ncbi gene id | 4541 | 4541 | 4541 |
| Ncbi protein id | YP_003024037.1 | YP_003024037.1 | YP_003024037.1 |
| PhyloP 100V | 3.261 | 3.261 | 3.261 |
| PhyloP 470Way | 0.819 | 0.819 | 0.819 |
| PhastCons 100V | 0.994 | 0.994 | 0.994 |
| PhastCons 470Way | 0.993 | 0.993 | 0.993 |
| PolyPhen2 | probably_damaging | probably_damaging | probably_damaging |
| PolyPhen2 score | 1 | 1 | 1 |
| SIFT | neutral | neutral | neutral |
| SIFT score | 0.33 | 0.12 | 0.24 |
| SIFT4G | Damaging | Damaging | Damaging |
| SIFT4G score | 0.009 | 0.001 | 0.001 |
| VEST | Neutral | Neutral | Neutral |
| VEST pvalue | 0.24 | 0.13 | 0.2 |
| VEST FDR | 0.45 | 0.4 | 0.45 |
| Mitoclass.1 | damaging | damaging | damaging |
| SNPDryad | Pathogenic | Pathogenic | Pathogenic |
| SNPDryad score | 0.98 | 0.97 | 1.0 |
| MutationTaster | Disease | Disease | Disease |
| MutationTaster score | 0.919627 | 1 | 0.988561 |
| MutationTaster converted rankscore | 0.36639 | 0.81001 | 0.40787 |
| MutationTaster model | simple_aae | complex_aae | simple_aae |
| MutationTaster AAE | M34T | M34* | M34K |
| fathmm | Tolerated | Tolerated | Tolerated |
| fathmm score | 1.66 | 1.65 | 1.65 |
| fathmm converted rankscore | 0.27486 | 0.27650 | 0.27650 |
| AlphaMissense | likely_pathogenic | likely_pathogenic | likely_pathogenic |
| AlphaMissense score | 0.9679 | 0.9633 | 0.9087 |
| CADD | Deleterious | Deleterious | Deleterious |
| CADD score | 3.582295 | 3.539599 | 3.524908 |
| CADD phred | 23.2 | 23.1 | 23.1 |
| PROVEAN | Damaging | Damaging | Damaging |
| PROVEAN score | -4.98 | -9.96 | -8.97 |
| MutationAssessor | medium | high | high |
| MutationAssessor score | 3.32 | 3.87 | 3.87 |
| EFIN SP | Damaging | Damaging | Damaging |
| EFIN SP score | 0.566 | 0.386 | 0.31 |
| EFIN HD | Damaging | Damaging | Damaging |
| EFIN HD score | 0.052 | 0.032 | 0.048 |
| MLC | Deleterious | Deleterious | Deleterious |
| MLC score | 0.74262176 | 0.74262176 | 0.74262176 |
| PANTHER score | . | . | . |
| PhD-SNP score | . | . | . |
| APOGEE1 | Neutral | Pathogenic | Pathogenic |
| APOGEE1 score | 0.45 | 0.72 | 0.6 |
| APOGEE2 | Likely-pathogenic | Pathogenic | Pathogenic |
| APOGEE2 score | 0.769592681926139 | 0.907664730159282 | 0.924318890441123 |
| CAROL | deleterious | deleterious | deleterious |
| CAROL score | 1.0 | 1.0 | 1.0 |
| Condel | neutral | neutral | neutral |
| Condel score | 0.17 | 0.06 | 0.12 |
| COVEC WMV | deleterious | deleterious | deleterious |
| COVEC WMV score | 1 | 2 | 2 |
| MtoolBox | deleterious | deleterious | deleterious |
| MtoolBox DS | 0.89 | 0.9 | 0.9 |
| DEOGEN2 | Damaging | Damaging | Damaging |
| DEOGEN2 score | 0.846984 | 0.856127 | 0.856127 |
| DEOGEN2 converted rankscore | 0.96481 | 0.96767 | 0.96767 |
| Meta-SNP | . | . | . |
| Meta-SNP score | . | . | . |
| PolyPhen2 transf | low impact | low impact | low impact |
| PolyPhen2 transf score | -3.55 | -3.55 | -3.55 |
| SIFT_transf | medium impact | medium impact | medium impact |
| SIFT transf score | 0.04 | -0.27 | -0.07 |
| MutationAssessor transf | medium impact | high impact | high impact |
| MutationAssessor transf score | 1.76 | 2.21 | 2.21 |
| CHASM | Neutral | Neutral | Neutral |
| CHASM pvalue | 0.58 | 0.43 | 0.5 |
| CHASM FDR | 0.8 | 0.8 | 0.8 |
| ClinVar id | . | . | . |
| ClinVar Allele id | . | . | . |
| ClinVar CLNDISDB | . | . | . |
| ClinVar CLNDN | . | . | . |
| ClinVar CLNSIG | . | . | . |
| MITOMAP Disease Clinical info | . | . | . |
| MITOMAP Disease Status | . | . | . |
| MITOMAP Disease Hom/Het | ./. | ./. | ./. |
| MITOMAP General GenBank Freq | 0.0% | . | . |
| MITOMAP General GenBank Seqs | 0 | . | . |
| MITOMAP General Curated refs | . | . | . |
| MITOMAP Variant Class | polymorphism | . | . |
| gnomAD 3.1 AN | 56432.0 | . | . |
| gnomAD 3.1 AC Homo | 0.0 | . | . |
| gnomAD 3.1 AF Hom | 0.0 | . | . |
| gnomAD 3.1 AC Het | 1.0 | . | . |
| gnomAD 3.1 AF Het | 1.77204e-05 | . | . |
| gnomAD 3.1 filter | PASS | . | . |
| HelixMTdb AC Hom | 0.0 | . | . |
| HelixMTdb AF Hom | 0.0 | . | . |
| HelixMTdb AC Het | 1.0 | . | . |
| HelixMTdb AF Het | 5.1024836e-06 | . | . |
| HelixMTdb mean ARF | 0.14835 | . | . |
| HelixMTdb max ARF | 0.14835 | . | . |
| ToMMo 54KJPN AC | . | . | . |
| ToMMo 54KJPN AF | . | . | . |
| ToMMo 54KJPN AN | . | . | . |
| COSMIC 90 | COSM1138269 | . | . |
| dbSNP 156 id | . | . | . |
