Chr |
chrM |
chrM |
Start |
14482 |
14482 |
End |
14482 |
14482 |
Ref |
C |
C |
Alt |
G |
A |
MitImpact id |
MI.23787 |
MI.23786 |
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 |
192 |
192 |
AA position |
64 |
64 |
AA ref |
M |
M |
AA alt |
I |
I |
Codon substitution |
atG/atC |
atG/atT |
PhyloP 100V |
-3.86528 |
-3.86528 |
PhastCons 100V |
0 |
0 |
PolyPhen2 |
probably_damaging |
probably_damaging |
PolyPhen2 score |
0.99 |
0.99 |
SIFT |
neutral |
neutral |
SIFT score |
0.31 |
0.31 |
SIFT4G |
Damaging |
Damaging |
SIFT4G score |
0.003 |
0.003 |
FatHmm |
neutral |
neutral |
FatHmm score |
-1.75 |
-1.75 |
FatHmmW |
neutral |
neutral |
FatHmmW score |
2.16 |
2.16 |
PROVEAN |
neutral |
neutral |
PROVEAN score |
-1.3 |
-1.3 |
MutationAssessor |
medium impact |
medium impact |
MutationAssessor score |
3.06 |
3.06 |
EFIN SP |
damaging |
damaging |
EFIN SP score |
0.19 |
0.19 |
EFIN HD |
damaging |
damaging |
EFIN HD score |
0.25 |
0.25 |
CADD |
deleterious |
deleterious |
CADD score |
2.13 |
2.63 |
CADD phred |
17.02 |
20.4 |
VEST pvalue |
0.39 |
0.39 |
VEST FDR |
0.5 |
0.5 |
PANTHER |
neutral |
neutral |
PANTHER score |
0.19 |
0.19 |
PhD-SNP |
disease |
disease |
PhD-SNP score |
0.9 |
0.9 |
SNAP |
disease |
disease |
SNAP score |
0.61 |
0.61 |
Meta-SNP |
disease |
disease |
Meta-SNP score |
0.8 |
0.8 |
Meta-SNP RI |
6 |
6 |
CAROL |
deleterious |
deleterious |
CAROL score |
0.99 |
0.99 |
Condel |
neutral |
neutral |
Condel score |
0.16 |
0.16 |
COVEC WMV |
deleterious |
deleterious |
COVEC WMV score |
1 |
1 |
MtoolBox |
deleterious |
deleterious |
MtoolBox DS |
0.79 |
0.79 |
PolyPhen2 transf |
low impact |
low impact |
PolyPhen2 transf score |
-2.63 |
-2.63 |
SIFT_transf |
medium impact |
medium impact |
SIFT transf score |
0.01 |
0.01 |
MutationAssessor transf |
medium impact |
medium impact |
MutationAssessor transf score |
1.42 |
1.42 |
CHASM pvalue |
0.78 |
0.78 |
CHASM FDR |
0.85 |
0.85 |
APOGEE1 |
Pathogenic |
Pathogenic |
APOGEE1 score |
0.96 |
0.96 |
APOGEE2 |
Pathogenic |
Pathogenic |
APOGEE2 score |
0.968812523246929 |
0.968812523246929 |
SNPDryad score |
0.87 |
0.87 |
MutationTaster |
. |
. |
MutationTaster score |
. |
. |
DEOGEN2 score |
0.33 |
0.33 |
Mitoclass.1 |
damaging |
damaging |
dbSNP 155 id |
. |
. |
ClinVar July2022 Variation id |
. |
. |
ClinVar July2022 CLNSIG |
. |
. |
ClinVar July2022 CLNDN |
. |
. |
ClinVar July2022 CLNDISDB |
. |
. |
COSMIC 90 |
. |
. |
MITOMAP Allele |
C14482G |
C14482A |
MITOMAP Disease Het/Hom |
+/+ |
+/+ |
MITOMAP Disease Clinical info |
LHON |
LHON |
MITOMAP Disease Status |
Cfrm [LP] |
Cfrm [LP] |
MITOMAP Disease GenBank Freq |
0.000%(0.000%) |
0.003%(0.000%) |
MITOMAP Disease GenBank Seqs |
0 (0) |
2 (0) |
MITOMAP Disease GenBank Curated refs |
8 |
14 |
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_64M|140I:0.138042;171A:0.090933;170I:0.08143;157G:0.076795;75I:0.070908;101G:0.064738 |
MT-ND6_64M|140I:0.138042;171A:0.090933;170I:0.08143;157G:0.076795;75I:0.070908;101G:0.064738 |
Site A InterP |
ND6_64 |
ND6_64 |
Site B InterP |
ND1_225;ND3_24 |
ND1_225;ND3_24 |
Covariation Score InterP |
mfDCA_26.74;mfDCA_19.8 |
mfDCA_26.74;mfDCA_19.8 |
Site A IntraP |
ND6_64 |
ND6_64 |
Site B IntraP |
ND6_15 |
ND6_15 |
Covariation Score IntraP |
mfDCA_15.0909 |
mfDCA_15.0909 |
CPD AA ref |
. |
. |
CPD AA alt |
. |
. |
CPD Aln pos |
. |
. |
CPD Frequency |
. |
. |
CPD Species name |
. |
. |
CPD RefSeq Protein ID |
. |
. |
CPD Ncbi Taxon id |
. |
. |
DDG intra |
MT-ND6:M64I:G15R:4.15186:0.754842:3.49027;MT-ND6:M64I:G15V:5.97903:0.754842:5.16697;MT-ND6:M64I:G15W:10.0983:0.754842:9.69947;MT-ND6:M64I:G15A:0.323198:0.754842:-0.423829;MT-ND6:M64I:G15E:5.94936:0.754842:5.18405 |
MT-ND6:M64I:G15R:4.15186:0.754842:3.49027;MT-ND6:M64I:G15V:5.97903:0.754842:5.16697;MT-ND6:M64I:G15W:10.0983:0.754842:9.69947;MT-ND6:M64I:G15A:0.323198:0.754842:-0.423829;MT-ND6:M64I:G15E:5.94936:0.754842:5.18405 |
DDG intra interface |
. |
. |
DDG inter |
. |
. |