~ | 3376 (G/A) | 3376 (G/C) |
---|---|---|
~ | 3376 (Gaa/Aaa) | 3376 (Gaa/Caa) |
Chr | chrM | chrM |
Start | 3376 | 3376 |
End | 3376 | 3376 |
Ref | G | G |
Alt | A | C |
MitImpact id | MI.10904 | MI.10905 |
Gene symbol | MT-ND1 | MT-ND1 |
Respiratory Chain complex | I | I |
Ensembl gene id | ENSG00000198888 | ENSG00000198888 |
Ensembl protein id | ENSP00000354687 | ENSP00000354687 |
Ensembl transcript id | ENST00000361390 | ENST00000361390 |
Uniprot name | NU1M_HUMAN | NU1M_HUMAN |
Uniprot id | P03886 | P03886 |
Ncbi gene id | 4535 | 4535 |
Ncbi protein id | YP_003024026.1 | YP_003024026.1 |
Gene position | 70 | 70 |
AA position | 24 | 24 |
AA ref | E | E |
AA alt | K | Q |
Codon substitution | Gaa/Aaa | Gaa/Caa |
PhyloP 100V | 6.26138 | 6.26138 |
PhastCons 100V | 1 | 1 |
PolyPhen2 | probably_damaging | probably_damaging |
PolyPhen2 score | 1.0 | 1.0 |
SIFT | neutral | neutral |
SIFT score | 0.09 | 0.09 |
SIFT4G | Damaging | Damaging |
SIFT4G score | 0 | 0.001 |
FatHmm | deleterious | deleterious |
FatHmm score | -3.5 | -3.74 |
FatHmmW | neutral | neutral |
FatHmmW score | 2.17 | 2.16 |
PROVEAN | deleterious | deleterious |
PROVEAN score | -3.56 | -2.67 |
MutationAssessor | high impact | high impact |
MutationAssessor score | 4.17 | 4.51 |
EFIN SP | neutral | neutral |
EFIN SP score | 0.72 | 0.68 |
EFIN HD | damaging | damaging |
EFIN HD score | 0.14 | 0.14 |
CADD | deleterious | deleterious |
CADD score | 4.29 | 3.19 |
CADD phred | 24 | 22.7 |
VEST pvalue | 0.04 | 0.1 |
VEST FDR | 0.35 | 0.4 |
PANTHER | . | . |
PANTHER score | . | . |
PhD-SNP | disease | disease |
PhD-SNP score | 0.94 | 0.83 |
SNAP | disease | disease |
SNAP score | 0.65 | 0.66 |
Meta-SNP | disease | disease |
Meta-SNP score | 0.76 | 0.7 |
Meta-SNP RI | 5 | 4 |
CAROL | deleterious | deleterious |
CAROL score | 1.0 | 1.0 |
Condel | neutral | neutral |
Condel score | 0.05 | 0.05 |
COVEC WMV | deleterious | deleterious |
COVEC WMV score | 2 | 2 |
MtoolBox | deleterious | deleterious |
MtoolBox DS | 0.94 | 0.9 |
PolyPhen2 transf | low impact | low impact |
PolyPhen2 transf score | -3.57 | -3.57 |
SIFT_transf | medium impact | medium impact |
SIFT transf score | -0.29 | -0.29 |
MutationAssessor transf | high impact | high impact |
MutationAssessor transf score | 2.45 | 2.75 |
CHASM pvalue | 0.54 | 0.7 |
CHASM FDR | 0.8 | 0.85 |
APOGEE1 | Neutral | Neutral |
APOGEE1 score | 0.5 | 0.48 |
APOGEE2 | Pathogenic | Likely-pathogenic |
APOGEE2 score | 0.935267922206213 | 0.870795774785094 |
SNPDryad score | 0.99 | 0.91 |
MutationTaster | disease_causing_automatic | polymorphism |
MutationTaster score | 0 | 1 |
DEOGEN2 score | 0.46 | 0.35 |
Mitoclass.1 | damaging | damaging |
dbSNP 155 id | rs397515612 | . |
ClinVar July2022 Variation id | . | . |
ClinVar July2022 CLNSIG | . | . |
ClinVar July2022 CLNDN | . | . |
ClinVar July2022 CLNDISDB | . | . |
COSMIC 90 | . | . |
MITOMAP Allele | G3376A | . |
MITOMAP Disease Het/Hom | +/+ | . |
MITOMAP Disease Clinical info | LHON MELAS overlap | . |
MITOMAP Disease Status | Cfrm [VUS*] | . |
MITOMAP Disease GenBank Freq | 0.000%(0.000%) | . |
MITOMAP Disease GenBank Seqs | 0 (0) | . |
MITOMAP Disease GenBank Curated refs | 4 | . |
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-ND1_24E|195R:0.209119;274R:0.203357;271L:0.192487;228Y:0.162924;28L:0.116615;192E:0.08058;144V:0.078778;224F:0.078658;212N:0.077396;52A:0.068962;196T:0.066408;121W:0.065935;204E:0.065252 | MT-ND1_24E|195R:0.209119;274R:0.203357;271L:0.192487;228Y:0.162924;28L:0.116615;192E:0.08058;144V:0.078778;224F:0.078658;212N:0.077396;52A:0.068962;196T:0.066408;121W:0.065935;204E:0.065252 |
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 | . | . |