~ | 13042 (G/A) | 13042 (G/C) | 13042 (G/T) |
---|---|---|---|
~ | 13042 (Gcc/Acc) | 13042 (Gcc/Ccc) | 13042 (Gcc/Tcc) |
Chr | chrM | chrM | chrM |
Start | 13042 | 13042 | 13042 |
End | 13042 | 13042 | 13042 |
Ref | G | G | G |
Alt | A | C | T |
MitImpact id | MI.20753 | MI.20754 | MI.20755 |
Gene symbol | MT-ND5 | MT-ND5 | MT-ND5 |
Respiratory Chain complex | I | I | I |
Ensembl gene id | ENSG00000198786 | ENSG00000198786 | ENSG00000198786 |
Ensembl protein id | ENSP00000354813 | ENSP00000354813 | ENSP00000354813 |
Ensembl transcript id | ENST00000361567 | ENST00000361567 | ENST00000361567 |
Uniprot name | NU5M_HUMAN | NU5M_HUMAN | NU5M_HUMAN |
Uniprot id | P03915 | P03915 | P03915 |
Ncbi gene id | 4540 | 4540 | 4540 |
Ncbi protein id | YP_003024036.1 | YP_003024036.1 | YP_003024036.1 |
Gene position | 706 | 706 | 706 |
AA position | 236 | 236 | 236 |
AA ref | A | A | A |
AA alt | T | P | S |
Codon substitution | Gcc/Acc | Gcc/Ccc | Gcc/Tcc |
PhyloP 100V | 7.2738 | 7.2738 | 7.2738 |
PhastCons 100V | 1 | 1 | 1 |
PolyPhen2 | probably_damaging | probably_damaging | probably_damaging |
PolyPhen2 score | 1 | 1 | 1 |
SIFT | neutral | neutral | neutral |
SIFT score | 0.42 | 0.24 | 0.45 |
SIFT4G | Damaging | Damaging | Damaging |
SIFT4G score | 0 | 0 | 0 |
FatHmm | deleterious | deleterious | deleterious |
FatHmm score | -4.58 | -6.89 | -4.3 |
FatHmmW | neutral | neutral | neutral |
FatHmmW score | 4.12 | 4.02 | 4.23 |
PROVEAN | deleterious | deleterious | deleterious |
PROVEAN score | -3.72 | -4.65 | -2.79 |
MutationAssessor | high impact | high impact | high impact |
MutationAssessor score | 4.87 | 4.41 | 3.64 |
EFIN SP | damaging | damaging | damaging |
EFIN SP score | 0.25 | 0.27 | 0.32 |
EFIN HD | damaging | damaging | neutral |
EFIN HD score | 0.19 | 0.27 | 0.39 |
CADD | deleterious | deleterious | deleterious |
CADD score | 4.2 | 3.84 | 3.68 |
CADD phred | 23.9 | 23.4 | 23.3 |
VEST pvalue | 0.33 | 0.24 | 0.22 |
VEST FDR | 0.5 | 0.45 | 0.45 |
PANTHER | disease | disease | disease |
PANTHER score | 0.61 | 0.86 | 0.76 |
PhD-SNP | disease | disease | disease |
PhD-SNP score | 0.56 | 0.59 | 0.51 |
SNAP | disease | disease | disease |
SNAP score | 0.75 | 0.83 | 0.71 |
Meta-SNP | disease | disease | disease |
Meta-SNP score | 0.71 | 0.73 | 0.64 |
Meta-SNP RI | 4 | 5 | 3 |
CAROL | deleterious | deleterious | deleterious |
CAROL score | 1.0 | 1.0 | 1.0 |
Condel | neutral | neutral | neutral |
Condel score | 0.21 | 0.12 | 0.23 |
COVEC WMV | deleterious | deleterious | deleterious |
COVEC WMV score | 2 | 2 | 2 |
MtoolBox | deleterious | deleterious | deleterious |
MtoolBox DS | 0.78 | 0.83 | 0.8 |
PolyPhen2 transf | low impact | low impact | low impact |
PolyPhen2 transf score | -3.6 | -3.6 | -3.6 |
SIFT_transf | medium impact | medium impact | medium impact |
SIFT transf score | 0.16 | -0.04 | 0.18 |
MutationAssessor transf | high impact | high impact | high impact |
MutationAssessor transf score | 3.25 | 2.83 | 2.12 |
CHASM pvalue | 0.72 | 0.6 | 0.69 |
CHASM FDR | 0.85 | 0.8 | 0.85 |
APOGEE1 | Pathogenic | Pathogenic | Pathogenic |
APOGEE1 score | 0.85 | 0.83 | 0.62 |
APOGEE2 | Likely-pathogenic | Likely-pathogenic | Likely-pathogenic |
APOGEE2 score | 0.893732485692743 | 0.843779945642372 | 0.722186813848507 |
SNPDryad score | 0.94 | 0.96 | 0.98 |
MutationTaster | disease_causing_automatic | polymorphism | polymorphism |
MutationTaster score | 0.03 | 0.9 | 0.99 |
DEOGEN2 score | 0.22 | 0.43 | 0.22 |
Mitoclass.1 | damaging | damaging | damaging |
dbSNP 155 id | . | . | . |
ClinVar July2022 Variation id | . | . | . |
ClinVar July2022 CLNSIG | . | . | . |
ClinVar July2022 CLNDN | . | . | . |
ClinVar July2022 CLNDISDB | . | . | . |
COSMIC 90 | COSM5652748 | . | . |
MITOMAP Allele | G13042A | . | . |
MITOMAP Disease Het/Hom | -/+ | . | . |
MITOMAP Disease Clinical info | Optic neuropathy/ retinopathy/ LD | . | . |
MITOMAP Disease Status | Cfrm [LP] | . | . |
MITOMAP Disease GenBank Freq | 0.003%(0.000%) | . | . |
MITOMAP Disease GenBank Seqs | 2 (0) | . | . |
MITOMAP Disease GenBank Curated refs | 9 | . | . |
MITOMAP General GenBank Freq | . | . | . |
MITOMAP General GenBank Seqs | . | . | . |
MITOMAP General Curated refs | . | . | . |
gnomAD 3.1 filter | npg | . | . |
gnomAD 3.1 AC Homo | 0 | . | . |
gnomAD 3.1 AC Het | 0 | . | . |
gnomAD 3.1 AF Hom | 0 | . | . |
gnomAD 3.1 AF Het | 0 | . | . |
gnomAD 3.1 AN | 56428 | . | . |
HelixMTdb AC Hom | . | . | . |
HelixMTdb AF Hom | . | . | . |
HelixMTdb AC Het | . | . | . |
HelixMTdb AF Het | . | . | . |
HelixMTdb mean ARF | . | . | . | HelixMTdb max ARF | . | . | . |
EVmutation | MT-ND5_236A|244S:0.182016;237M:0.177634;303A:0.176312;299K:0.117245;396I:0.107623;247L:0.097882;333A:0.093703;241T:0.090735;339L:0.08794;306T:0.085258;340F:0.082234;249S:0.079462;251T:0.079315;243V:0.075992;253V:0.07389;332H:0.069038;300K:0.066845 | MT-ND5_236A|244S:0.182016;237M:0.177634;303A:0.176312;299K:0.117245;396I:0.107623;247L:0.097882;333A:0.093703;241T:0.090735;339L:0.08794;306T:0.085258;340F:0.082234;249S:0.079462;251T:0.079315;243V:0.075992;253V:0.07389;332H:0.069038;300K:0.066845 | MT-ND5_236A|244S:0.182016;237M:0.177634;303A:0.176312;299K:0.117245;396I:0.107623;247L:0.097882;333A:0.093703;241T:0.090735;339L:0.08794;306T:0.085258;340F:0.082234;249S:0.079462;251T:0.079315;243V:0.075992;253V:0.07389;332H:0.069038;300K:0.066845 |
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 | . | . | . |