~ | 3697 (G/A) | 3697 (G/C) | 3697 (G/T) |
---|---|---|---|
~ | 3697 (Ggc/Agc) | 3697 (Ggc/Cgc) | 3697 (Ggc/Tgc) |
Chr | chrM | chrM | chrM |
Start | 3697 | 3697 | 3697 |
End | 3697 | 3697 | 3697 |
Ref | G | G | G |
Alt | A | C | T |
MitImpact id | MI.11568 | MI.11567 | MI.11566 |
Gene symbol | MT-ND1 | MT-ND1 | MT-ND1 |
Respiratory Chain complex | I | I | I |
Ensembl gene id | ENSG00000198888 | ENSG00000198888 | ENSG00000198888 |
Ensembl protein id | ENSP00000354687 | ENSP00000354687 | ENSP00000354687 |
Ensembl transcript id | ENST00000361390 | ENST00000361390 | ENST00000361390 |
Uniprot name | NU1M_HUMAN | NU1M_HUMAN | NU1M_HUMAN |
Uniprot id | P03886 | P03886 | P03886 |
Ncbi gene id | 4535 | 4535 | 4535 |
Ncbi protein id | YP_003024026.1 | YP_003024026.1 | YP_003024026.1 |
Gene position | 391 | 391 | 391 |
AA position | 131 | 131 | 131 |
AA ref | G | G | G |
AA alt | S | R | C |
Codon substitution | Ggc/Agc | Ggc/Cgc | Ggc/Tgc |
PhyloP 100V | 7.42339 | 7.42339 | 7.42339 |
PhastCons 100V | 1 | 1 | 1 |
PolyPhen2 | probably_damaging | probably_damaging | probably_damaging |
PolyPhen2 score | 1.0 | 1.0 | 1.0 |
SIFT | neutral | neutral | neutral |
SIFT score | 0.59 | 0.32 | 0.16 |
SIFT4G | Damaging | Damaging | Damaging |
SIFT4G score | 0 | 0.011 | 0 |
FatHmm | deleterious | deleterious | deleterious |
FatHmm score | -5.32 | -8.91 | -8.74 |
FatHmmW | neutral | neutral | neutral |
FatHmmW score | 1.99 | 1.92 | 1.9 |
PROVEAN | deleterious | deleterious | deleterious |
PROVEAN score | -5.44 | -7.26 | -8.18 |
MutationAssessor | medium impact | high impact | high impact |
MutationAssessor score | 3.36 | 4.94 | 4.94 |
EFIN SP | neutral | neutral | neutral |
EFIN SP score | 0.63 | 0.77 | 0.67 |
EFIN HD | damaging | damaging | damaging |
EFIN HD score | 0.14 | 0.13 | 0.09 |
CADD | deleterious | deleterious | deleterious |
CADD score | 4.16 | 3.86 | 4.1 |
CADD phred | 23.8 | 23.5 | 23.7 |
VEST pvalue | 0.02 | 0.02 | 0.01 |
VEST FDR | 0.35 | 0.35 | 0.35 |
PANTHER | neutral | disease | disease |
PANTHER score | 0.46 | 0.85 | 0.86 |
PhD-SNP | disease | disease | disease |
PhD-SNP score | 0.89 | 0.9 | 0.92 |
SNAP | disease | disease | disease |
SNAP score | 0.64 | 0.78 | 0.67 |
Meta-SNP | disease | disease | disease |
Meta-SNP score | 0.7 | 0.72 | 0.67 |
Meta-SNP RI | 4 | 4 | 3 |
CAROL | deleterious | deleterious | deleterious |
CAROL score | 1.0 | 1.0 | 1.0 |
Condel | neutral | neutral | neutral |
Condel score | 0.3 | 0.16 | 0.08 |
COVEC WMV | deleterious | deleterious | deleterious |
COVEC WMV score | 1 | 2 | 2 |
MtoolBox | deleterious | deleterious | deleterious |
MtoolBox DS | 0.85 | 0.91 | 0.9 |
PolyPhen2 transf | low impact | low impact | low impact |
PolyPhen2 transf score | -3.57 | -3.57 | -3.57 |
SIFT_transf | medium impact | medium impact | medium impact |
SIFT transf score | 0.36 | 0.09 | -0.13 |
MutationAssessor transf | medium impact | high impact | high impact |
MutationAssessor transf score | 1.75 | 3.13 | 3.13 |
CHASM pvalue | 0.56 | 0.52 | 0.24 |
CHASM FDR | 0.8 | 0.8 | 0.8 |
APOGEE1 | Neutral | Pathogenic | Pathogenic |
APOGEE1 score | 0.36 | 0.66 | 0.52 |
APOGEE2 | Pathogenic | Likely-pathogenic | Likely-pathogenic |
APOGEE2 score | 0.931720717312461 | 0.845045813479349 | 0.873118235073735 |
SNPDryad score | 0.99 | 0.99 | 0.98 |
MutationTaster | disease_causing_automatic | polymorphism | polymorphism |
MutationTaster score | 0 | 1 | 1 |
DEOGEN2 score | 0.26 | 0.49 | 0.49 |
Mitoclass.1 | damaging | damaging | damaging |
dbSNP 155 id | rs199476122 | . | . |
ClinVar July2022 Variation id | . | . | . |
ClinVar July2022 CLNSIG | . | . | . |
ClinVar July2022 CLNDN | . | . | . |
ClinVar July2022 CLNDISDB | . | . | . |
COSMIC 90 | COSM6119904 | . | . |
MITOMAP Allele | G3697A | . | . |
MITOMAP Disease Het/Hom | +/+ | . | . |
MITOMAP Disease Clinical info | MELAS / Leigh Syndrome / LDYT / BSN | . | . |
MITOMAP Disease Status | Cfrm [LP] | . | . |
MITOMAP Disease GenBank Freq | 0.000%(0.000%) | . | . |
MITOMAP Disease GenBank Seqs | 0 (0) | . | . |
MITOMAP Disease GenBank Curated refs | 21 | . | . |
MITOMAP General GenBank Freq | . | . | 0 |
MITOMAP General GenBank Seqs | . | . | 0 |
MITOMAP General Curated refs | . | . | 1 |
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 | 0.0 | . | . |
HelixMTdb AF Hom | 0.0 | . | . |
HelixMTdb AC Het | 3.0 | . | . |
HelixMTdb AF Het | 1.530745e-05 | . | . |
HelixMTdb mean ARF | 0.19709 | . | . | HelixMTdb max ARF | 0.23226 | . | . |
EVmutation | MT-ND1_131G|201A:0.172594;135A:0.150774;203G:0.086072;137A:0.073318;217A:0.066632;213I:0.064892 | MT-ND1_131G|201A:0.172594;135A:0.150774;203G:0.086072;137A:0.073318;217A:0.066632;213I:0.064892 | MT-ND1_131G|201A:0.172594;135A:0.150774;203G:0.086072;137A:0.073318;217A:0.066632;213I:0.064892 |
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 | . | . | . |