~ | 14495 (A/G) | 14495 (A/C) |
---|---|---|
~ | 14495 (tTa/tCa) | 14495 (tTa/tGa) |
Chr | chrM | chrM |
Start | 14495 | 14495 |
End | 14495 | 14495 |
Ref | A | A |
Alt | G | C |
MitImpact id | MI.23813 | MI.23812 |
Gene symbol | MT-ND6 | MT-ND6 |
Respiratory Chain complex | I | I |
Ensembl gene id | ENSG00000198695 | ENSG00000198695 |
Ensembl protein id | ENSP00000354665 | ENSP00000354665 |
Ensembl transcript id | ENST00000361681 | ENST00000361681 |
Uniprot name | NU6M_HUMAN | NU6M_HUMAN |
Uniprot id | P03923 | P03923 |
Ncbi gene id | 4541 | 4541 |
Ncbi protein id | YP_003024037.1 | YP_003024037.1 |
Gene position | 179 | 179 |
AA position | 60 | 60 |
AA ref | L | L |
AA alt | S | W |
Codon substitution | tTa/tCa | tTa/tGa |
PhyloP 100V | 6.73754 | 6.73754 |
PhastCons 100V | 1 | 1 |
PolyPhen2 | probably_damaging | probably_damaging |
PolyPhen2 score | 1 | 1 |
SIFT | neutral | neutral |
SIFT score | 0.29 | 0.12 |
SIFT4G | Damaging | Damaging |
SIFT4G score | 0 | 0 |
FatHmm | deleterious | deleterious |
FatHmm score | -6.14 | -7.73 |
FatHmmW | neutral | neutral |
FatHmmW score | 2.17 | 2.1 |
PROVEAN | deleterious | deleterious |
PROVEAN score | -5.99 | -5.99 |
MutationAssessor | high impact | high impact |
MutationAssessor score | 3.66 | 4 |
EFIN SP | damaging | damaging |
EFIN SP score | 0.23 | 0.5 |
EFIN HD | damaging | damaging |
EFIN HD score | 0.17 | 0.25 |
CADD | deleterious | deleterious |
CADD score | 3.77 | 3.29 |
CADD phred | 23.4 | 22.8 |
VEST pvalue | 0.19 | 0.15 |
VEST FDR | 0.45 | 0.45 |
PANTHER | disease | disease |
PANTHER score | 0.82 | 0.9 |
PhD-SNP | disease | disease |
PhD-SNP score | 0.91 | 0.91 |
SNAP | disease | disease |
SNAP score | 0.75 | 0.78 |
Meta-SNP | disease | disease |
Meta-SNP score | 0.84 | 0.88 |
Meta-SNP RI | 7 | 8 |
CAROL | deleterious | deleterious |
CAROL score | 1.0 | 1.0 |
Condel | neutral | neutral |
Condel score | 0.15 | 0.06 |
COVEC WMV | deleterious | deleterious |
COVEC WMV score | 2 | 2 |
MtoolBox | deleterious | deleterious |
MtoolBox DS | 0.86 | 0.87 |
PolyPhen2 transf | low impact | low impact |
PolyPhen2 transf score | -3.55 | -3.55 |
SIFT_transf | medium impact | medium impact |
SIFT transf score | -0.01 | -0.27 |
MutationAssessor transf | medium impact | high impact |
MutationAssessor transf score | 1.93 | 2.21 |
CHASM pvalue | 0.64 | 0.68 |
CHASM FDR | 0.8 | 0.85 |
APOGEE1 | Pathogenic | Neutral |
APOGEE1 score | 0.87 | 0.42 |
APOGEE2 | Pathogenic | Likely-pathogenic |
APOGEE2 score | 0.930438486242685 | 0.856900756978538 |
SNPDryad score | 0.97 | 0.98 |
MutationTaster | . | . |
MutationTaster score | . | . |
DEOGEN2 score | 0.84 | 0.84 |
Mitoclass.1 | damaging | damaging |
dbSNP 155 id | . | . |
ClinVar July2022 Variation id | . | . |
ClinVar July2022 CLNSIG | . | . |
ClinVar July2022 CLNDN | . | . |
ClinVar July2022 CLNDISDB | . | . |
COSMIC 90 | . | . |
MITOMAP Allele | A14495G | . |
MITOMAP Disease Het/Hom | -/+ | . |
MITOMAP Disease Clinical info | LHON | . |
MITOMAP Disease Status | Cfrm [LP] | . |
MITOMAP Disease GenBank Freq | 0.003%(0.000%) | . |
MITOMAP Disease GenBank Seqs | 2 (0) | . |
MITOMAP Disease GenBank Curated refs | 12 | . |
MITOMAP General GenBank Freq | . | . |
MITOMAP General GenBank Seqs | . | . |
MITOMAP General Curated refs | . | . |
gnomAD 3.1 filter | . | . |
gnomAD 3.1 AC Homo | . | . |
gnomAD 3.1 AC Het | . | . |
gnomAD 3.1 AF Hom | . | . |
gnomAD 3.1 AF Het | . | . |
gnomAD 3.1 AN | . | . |
HelixMTdb AC Hom | . | . |
HelixMTdb AF Hom | . | . |
HelixMTdb AC Het | . | . |
HelixMTdb AF Het | . | . |
HelixMTdb mean ARF | . | . | HelixMTdb max ARF | . | . |
EVmutation | MT-ND6_60L|74A:0.105229;73M:0.076548;165Y:0.076104;82W:0.074487 | MT-ND6_60L|74A:0.105229;73M:0.076548;165Y:0.076104;82W:0.074487 |
Site A InterP | . | . |
Site B InterP | . | . |
Covariation Score InterP | . | . |
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 | . | . |