Chr |
chrM |
chrM |
chrM |
Start |
13379 |
13379 |
13379 |
End |
13379 |
13379 |
13379 |
Ref |
A |
A |
A |
Alt |
C |
T |
G |
MitImpact id |
MI.21487 |
MI.21485 |
MI.21486 |
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 |
1043 |
1043 |
1043 |
AA position |
348 |
348 |
348 |
AA ref |
H |
H |
H |
AA alt |
P |
L |
R |
Codon substitution |
cAc/cCc |
cAc/cTc |
cAc/cGc |
PhyloP 100V |
5.44 |
5.44 |
5.44 |
PhastCons 100V |
1 |
1 |
1 |
PolyPhen2 |
probably_damaging |
probably_damaging |
probably_damaging |
PolyPhen2 score |
1 |
1 |
1 |
SIFT |
neutral |
neutral |
neutral |
SIFT score |
0.21 |
0.78 |
0.35 |
FatHmm |
deleterious |
neutral |
neutral |
FatHmm score |
-4.94 |
-2.84 |
-2.63 |
FatHmmW |
neutral |
neutral |
neutral |
FatHmmW score |
4.49 |
4.55 |
4.54 |
PROVEAN |
deleterious |
deleterious |
deleterious |
PROVEAN score |
-9.01 |
-9.91 |
-7.21 |
MutationAssessor |
high impact |
high impact |
high impact |
MutationAssessor score |
4.57 |
3.54 |
3.8 |
EFIN SP |
damaging |
damaging |
damaging |
EFIN SP score |
0.41 |
0.35 |
0.48 |
EFIN HD |
damaging |
damaging |
damaging |
EFIN HD score |
0.11 |
0.09 |
0.1 |
CADD |
deleterious |
deleterious |
deleterious |
CADD score |
3.28 |
3.96 |
3.05 |
CADD phred |
22.8 |
23.6 |
22.4 |
VEST pvalue |
0.15 |
0.17 |
0.39 |
VEST FDR |
0.4 |
0.45 |
0.5 |
PANTHER |
disease |
disease |
disease |
PANTHER score |
0.86 |
0.68 |
0.69 |
PhD-SNP |
disease |
disease |
disease |
PhD-SNP score |
0.92 |
0.92 |
0.89 |
SNAP |
disease |
disease |
disease |
SNAP score |
0.87 |
0.8 |
0.82 |
Meta-SNP |
disease |
disease |
disease |
Meta-SNP score |
0.85 |
0.82 |
0.82 |
Meta-SNP RI |
7 |
6 |
6 |
CAROL |
deleterious |
deleterious |
deleterious |
CAROL score |
1 |
1 |
1 |
Condel |
neutral |
neutral |
neutral |
Condel score |
0.11 |
0.39 |
0.18 |
COVEC WMV |
deleterious |
deleterious |
deleterious |
COVEC WMV score |
2 |
2 |
2 |
MtoolBox |
deleterious |
deleterious |
deleterious |
MtoolBox DS |
0.9 |
0.86 |
0.87 |
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 |
-0.09 |
0.54 |
0.08 |
MutationAssessor transf |
high impact |
high impact |
high impact |
MutationAssessor transf score |
2.97 |
2.03 |
2.27 |
CHASM pvalue |
0.28 |
0.35 |
0.54 |
CHASM FDR |
0.8 |
0.8 |
0.8 |
APOGEE |
Pathogenic |
Likely-pathogenic |
Likely-pathogenic |
APOGEE score |
0.9543328125749126 |
0.8385271014961563 |
0.8034940860699451 |
SNPDryad score |
0.97 |
0.97 |
0.99 |
MutationTaster |
disease_causing |
disease_causing |
disease_causing |
MutationTaster score |
1 |
1 |
1 |
DEOGEN2 score |
0.4 |
0.2 |
0.21 |
Mitoclass.1 |
damaging |
damaging |
damaging |
dbSNP 155 id |
. |
. |
. |
ClinVar October2021 Variation id |
. |
. |
. |
ClinVar October2021 CLNSIG |
. |
. |
. |
ClinVar October2021 CLNDN |
. |
. |
. |
ClinVar October2021 CLNDISDB |
. |
. |
. |
COSMIC 90 |
. |
. |
. |
MITOMAP Allele |
A13379C |
. |
A13379G |
MITOMAP Disease Het/Hom |
+/- |
. |
+/- |
MITOMAP Disease Clinical info |
LHON |
. |
LHON |
MITOMAP Disease Status |
Reported |
. |
Cfrm |
MITOMAP Disease GenBank Freq |
0.000% |
. |
0.000% |
MITOMAP Disease GenBank Seqs |
0 (0) |
. |
0 (0) |
MITOMAP Disease GenBank Curated refs |
1 |
. |
2 |
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-ND5_348H|349N:0.24883;350L:0.136903;369T:0.101802;391S:0.101338;351N:0.092699;366M:0.068861 |
MT-ND5_348H|349N:0.24883;350L:0.136903;369T:0.101802;391S:0.101338;351N:0.092699;366M:0.068861 |
MT-ND5_348H|349N:0.24883;350L:0.136903;369T:0.101802;391S:0.101338;351N:0.092699;366M:0.068861 |
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 |
. |
. |
. |