~ | 10663 (T/C) | 10663 (T/A) | 10663 (T/G) |
---|---|---|---|
~ | 10663 (gTc/gCc) | 10663 (gTc/gAc) | 10663 (gTc/gGc) |
Chr | chrM | chrM | chrM |
Start | 10663 | 10663 | 10663 |
End | 10663 | 10663 | 10663 |
Ref | T | T | T |
Alt | C | A | G |
MitImpact id | MI.16101 | MI.16102 | MI.16103 |
Gene symbol | MT-ND4L | MT-ND4L | MT-ND4L |
Respiratory Chain complex | I | I | I |
Ensembl gene id | ENSG00000212907 | ENSG00000212907 | ENSG00000212907 |
Ensembl protein id | ENSP00000354728 | ENSP00000354728 | ENSP00000354728 |
Ensembl transcript id | ENST00000361335 | ENST00000361335 | ENST00000361335 |
Uniprot name | NU4LM_HUMAN | NU4LM_HUMAN | NU4LM_HUMAN |
Uniprot id | P03901 | P03901 | P03901 |
Ncbi gene id | 4539 | 4539 | 4539 |
Ncbi protein id | YP_003024034.1 | YP_003024034.1 | YP_003024034.1 |
Gene position | 194 | 194 | 194 |
AA position | 65 | 65 | 65 |
AA ref | V | V | V |
AA alt | A | D | G |
Codon substitution | gTc/gCc | gTc/gAc | gTc/gGc |
PhyloP 100V | 0.98 | 0.98 | 0.98 |
PhastCons 100V | 0.75 | 0.75 | 0.75 |
PolyPhen2 | possibly_damaging | probably_damaging | probably_damaging |
PolyPhen2 score | 0.8 | 0.98 | 0.97 |
SIFT | neutral | neutral | neutral |
SIFT score | 0.62 | 0.2 | 0.36 |
FatHmm | neutral | deleterious | deleterious |
FatHmm score | -2.23 | -6.18 | -4.9 |
FatHmmW | neutral | neutral | neutral |
FatHmmW score | 1.53 | 1.39 | 1.4 |
PROVEAN | deleterious | deleterious | deleterious |
PROVEAN score | -3.98 | -6.89 | -6.96 |
MutationAssessor | medium impact | high impact | medium impact |
MutationAssessor score | 2.15 | 3.97 | 2.82 |
EFIN SP | damaging | neutral | neutral |
EFIN SP score | 0.28 | 0.7 | 0.74 |
EFIN HD | damaging | neutral | neutral |
EFIN HD score | 0.25 | 0.37 | 0.45 |
CADD | neutral | deleterious | deleterious |
CADD score | 1.28 | 4.68 | 3.8 |
CADD phred | 12.18 | 24.6 | 23.4 |
VEST pvalue | 0.43 | 0.11 | 0.27 |
VEST FDR | 0.55 | 0.4 | 0.45 |
PANTHER | neutral | disease | disease |
PANTHER score | 0.19 | 0.65 | 0.52 |
PhD-SNP | neutral | disease | disease |
PhD-SNP score | 0.28 | 0.94 | 0.91 |
SNAP | neutral | disease | disease |
SNAP score | 0.36 | 0.7 | 0.57 |
Meta-SNP | neutral | disease | disease |
Meta-SNP score | 0.43 | 0.86 | 0.79 |
Meta-SNP RI | 1 | 7 | 6 |
CAROL | neutral | deleterious | neutral |
CAROL score | 0.77 | 0.99 | 0.97 |
Condel | neutral | neutral | neutral |
Condel score | 0.41 | 0.11 | 0.2 |
COVEC WMV | . | deleterious | deleterious |
COVEC WMV score | 0 | 2 | 1 |
MtoolBox | deleterious | deleterious | deleterious |
MtoolBox DS | 0.58 | 0.85 | 0.79 |
PolyPhen2 transf | low impact | low impact | low impact |
PolyPhen2 transf score | -1.35 | -2.35 | -2.19 |
SIFT_transf | medium impact | medium impact | medium impact |
SIFT transf score | 0.33 | -0.12 | 0.07 |
MutationAssessor transf | medium impact | high impact | medium impact |
MutationAssessor transf score | 0.66 | 2.19 | 1.23 |
CHASM pvalue | 0.33 | 0.53 | 0.5 |
CHASM FDR | 0.8 | 0.8 | 0.8 |
APOGEE | Likely-pathogenic | Likely-pathogenic | VUS |
APOGEE score | 0.8224447748745232 | 0.7973873107845675 | 0.5482248040465001 |
SNPDryad score | 0.89 | 0.98 | 0.97 |
MutationTaster | disease_causing_automatic | disease_causing | disease_causing |
MutationTaster score | 0.12 | 1 | 1 |
DEOGEN2 score | 0.1 | 0.32 | 0.11 |
Mitoclass.1 | neutral | damaging | damaging |
dbSNP 155 id | rs1556423844 | . | . |
ClinVar October2021 Variation id | . | . | . |
ClinVar October2021 CLNSIG | . | . | . |
ClinVar October2021 CLNDN | . | . | . |
ClinVar October2021 CLNDISDB | . | . | . |
COSMIC 90 | . | . | . |
MITOMAP Allele | T10663C | . | . |
MITOMAP Disease Het/Hom | +/- | . | . |
MITOMAP Disease Clinical info | LHON | . | . |
MITOMAP Disease Status | Cfrm | . | . |
MITOMAP Disease GenBank Freq | 0.000% | . | . |
MITOMAP Disease GenBank Seqs | 2 (0) | . | . |
MITOMAP Disease GenBank Curated refs | 16 | . | . |
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 | 56429 | . | . |
HelixMTdb AC Hom | 1 | . | . |
HelixMTdb AF Hom | 5.1024836e-06 | . | . |
HelixMTdb AC Het | 1 | . | . |
HelixMTdb AF Het | 5.1024836e-06 | . | . |
HelixMTdb mean ARF | 0.10714 | . | . | HelixMTdb max ARF | 0.10714 | . | . |
EVmutation | MT-ND4L_65V|68A:0.312138;80S:0.268146;66F:0.160226;83N:0.155337;73V:0.117822;72A:0.110734;74G:0.083326 | MT-ND4L_65V|68A:0.312138;80S:0.268146;66F:0.160226;83N:0.155337;73V:0.117822;72A:0.110734;74G:0.083326 | MT-ND4L_65V|68A:0.312138;80S:0.268146;66F:0.160226;83N:0.155337;73V:0.117822;72A:0.110734;74G:0.083326 |
Site A InterP | ND4L_65 | ND4L_65 | ND4L_65 |
Site B InterP | ND3_70 | ND3_70 | ND3_70 |
Covariation Score InterP | mfDCA_25.0 | mfDCA_25.0 | mfDCA_25.0 |
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 | MT-ND4L:MT-ND3:5ldw:K:A:V65A:A70T:0.996944:1.07140863:-0.10531006;MT-ND4L:MT-ND3:5ldw:K:A:V65A:A70P:1.12169:1.07140863:0.136969954;MT-ND4L:MT-ND3:5ldw:K:A:V65A:A70G:1.079168:1.07140863:0.0606499687;MT-ND4L:MT-ND3:5ldw:K:A:V65A:A70D:1.281703:1.07140863:0.237130165;MT-ND4L:MT-ND3:5ldw:K:A:V65A:A70V:0.975782:1.07140863:-0.165289968;MT-ND4L:MT-ND3:5ldw:K:A:V65A:A70S:1.078009:1.07140863:-0.0444901474;MT-ND4L:MT-ND3:5ldx:K:A:V65A:A70T:0.921544:0.983483911:-0.166613057;MT-ND4L:MT-ND3:5ldx:K:A:V65A:A70P:1.03586:0.983483911:0.103146836;MT-ND4L:MT-ND3:5ldx:K:A:V65A:A70G:0.996203:0.983483911:0.0906528458;MT-ND4L:MT-ND3:5ldx:K:A:V65A:A70D:1.163597:0.983483911:0.198536918;MT-ND4L:MT-ND3:5ldx:K:A:V65A:A70V:0.724451:0.983483911:-0.608348012;MT-ND4L:MT-ND3:5ldx:K:A:V65A:A70S:0.988545:0.983483911:-0.0454552174 | MT-ND4L:MT-ND3:5ldw:K:A:V65D:A70V:2.600093:2.76944804:-0.165289968;MT-ND4L:MT-ND3:5ldw:K:A:V65D:A70T:2.537823:2.76944804:-0.10531006;MT-ND4L:MT-ND3:5ldw:K:A:V65D:A70S:2.7872:2.76944804:-0.0444901474;MT-ND4L:MT-ND3:5ldw:K:A:V65D:A70G:2.720839:2.76944804:0.0606499687;MT-ND4L:MT-ND3:5ldw:K:A:V65D:A70P:2.772003:2.76944804:0.136969954;MT-ND4L:MT-ND3:5ldw:K:A:V65D:A70D:3.255235:2.76944804:0.237130165;MT-ND4L:MT-ND3:5ldx:K:A:V65D:A70V:2.455729:2.66725397:-0.608348012;MT-ND4L:MT-ND3:5ldx:K:A:V65D:A70T:2.502454:2.66725397:-0.166613057;MT-ND4L:MT-ND3:5ldx:K:A:V65D:A70S:2.730646:2.66725397:-0.0454552174;MT-ND4L:MT-ND3:5ldx:K:A:V65D:A70G:2.711726:2.66725397:0.0906528458;MT-ND4L:MT-ND3:5ldx:K:A:V65D:A70P:2.80799:2.66725397:0.103146836;MT-ND4L:MT-ND3:5ldx:K:A:V65D:A70D:3.277618:2.66725397:0.198536918 | MT-ND4L:MT-ND3:5ldw:K:A:V65G:A70S:1.353553:1.34940958:-0.0444901474;MT-ND4L:MT-ND3:5ldw:K:A:V65G:A70G:1.362801:1.34940958:0.0606499687;MT-ND4L:MT-ND3:5ldw:K:A:V65G:A70V:1.251895:1.34940958:-0.165289968;MT-ND4L:MT-ND3:5ldw:K:A:V65G:A70T:1.255951:1.34940958:-0.10531006;MT-ND4L:MT-ND3:5ldw:K:A:V65G:A70D:1.552873:1.34940958:0.237130165;MT-ND4L:MT-ND3:5ldw:K:A:V65G:A70P:1.411591:1.34940958:0.136969954;MT-ND4L:MT-ND3:5ldx:K:A:V65G:A70S:1.245295:1.23225188:-0.0454552174;MT-ND4L:MT-ND3:5ldx:K:A:V65G:A70G:1.243825:1.23225188:0.0906528458;MT-ND4L:MT-ND3:5ldx:K:A:V65G:A70V:1.109897:1.23225188:-0.608348012;MT-ND4L:MT-ND3:5ldx:K:A:V65G:A70T:1.180902:1.23225188:-0.166613057;MT-ND4L:MT-ND3:5ldx:K:A:V65G:A70D:1.403211:1.23225188:0.198536918;MT-ND4L:MT-ND3:5ldx:K:A:V65G:A70P:1.269099:1.23225188:0.103146836 |