~ | 15579 (A/G) | 15579 (A/T) | 15579 (A/C) |
---|---|---|---|
~ | 15579 (tAc/tGc) | 15579 (tAc/tTc) | 15579 (tAc/tCc) |
Chr | chrM | chrM | chrM |
Start | 15579 | 15579 | 15579 |
End | 15579 | 15579 | 15579 |
Ref | A | A | A |
Alt | G | T | C |
MitImpact id | MI.10110 | MI.10109 | MI.10108 |
Gene symbol | MT-CYB | MT-CYB | MT-CYB |
Respiratory Chain complex | III | III | III |
Ensembl gene id | ENSG00000198727 | ENSG00000198727 | ENSG00000198727 |
Ensembl protein id | ENSP00000354554 | ENSP00000354554 | ENSP00000354554 |
Ensembl transcript id | ENST00000361789 | ENST00000361789 | ENST00000361789 |
Uniprot name | CYB_HUMAN | CYB_HUMAN | CYB_HUMAN |
Uniprot id | P00156 | P00156 | P00156 |
Ncbi gene id | 4519 | 4519 | 4519 |
Ncbi protein id | YP_003024038.1 | YP_003024038.1 | YP_003024038.1 |
Gene position | 833 | 833 | 833 |
AA position | 278 | 278 | 278 |
AA ref | Y | Y | Y |
AA alt | C | F | S |
Codon substitution | tAc/tGc | tAc/tTc | tAc/tCc |
PhyloP 100V | 8.59128 | 8.59128 | 8.59128 |
PhastCons 100V | 1 | 1 | 1 |
PolyPhen2 | probably_damaging | probably_damaging | probably_damaging |
PolyPhen2 score | 1 | 1 | 1 |
SIFT | neutral | neutral | neutral |
SIFT score | 0.17 | 0.7 | 0.4 |
SIFT4G | Damaging | Damaging | Damaging |
SIFT4G score | 0 | 0 | 0 |
FatHmm | deleterious | deleterious | deleterious |
FatHmm score | -7.98 | -3.27 | -7.28 |
FatHmmW | neutral | neutral | neutral |
FatHmmW score | 1.73 | 1.96 | 1.74 |
PROVEAN | deleterious | deleterious | deleterious |
PROVEAN score | -6.21 | -2.75 | -6.17 |
MutationAssessor | high impact | high impact | high impact |
MutationAssessor score | 5.33 | 3.64 | 4.99 |
EFIN SP | neutral | neutral | neutral |
EFIN SP score | 0.94 | 0.94 | 0.92 |
EFIN HD | damaging | damaging | damaging |
EFIN HD score | 0.07 | 0.11 | 0.11 |
CADD | deleterious | deleterious | deleterious |
CADD score | 3.69 | 3.27 | 3.82 |
CADD phred | 23.3 | 22.8 | 23.4 |
VEST pvalue | 0.02 | 0.15 | 0.03 |
VEST FDR | 0.35 | 0.4 | 0.35 |
PANTHER | disease | neutral | disease |
PANTHER score | 0.85 | 0.48 | 0.54 |
PhD-SNP | disease | disease | disease |
PhD-SNP score | 0.9 | 0.86 | 0.9 |
SNAP | disease | disease | disease |
SNAP score | 0.86 | 0.8 | 0.81 |
Meta-SNP | disease | disease | disease |
Meta-SNP score | 0.82 | 0.73 | 0.77 |
Meta-SNP RI | 6 | 5 | 5 |
CAROL | deleterious | deleterious | deleterious |
CAROL score | 1.0 | 1.0 | 1.0 |
Condel | neutral | neutral | neutral |
Condel score | 0.09 | 0.35 | 0.2 |
COVEC WMV | deleterious | deleterious | deleterious |
COVEC WMV score | 2 | 2 | 2 |
MtoolBox | deleterious | deleterious | deleterious |
MtoolBox DS | 0.88 | 0.83 | 0.86 |
PolyPhen2 transf | low impact | low impact | low impact |
PolyPhen2 transf score | -3.53 | -3.53 | -3.53 |
SIFT_transf | medium impact | medium impact | medium impact |
SIFT transf score | -0.15 | 0.42 | 0.13 |
MutationAssessor transf | high impact | high impact | high impact |
MutationAssessor transf score | 3.65 | 2.11 | 3.34 |
CHASM pvalue | 0.15 | 0.42 | 0.3 |
CHASM FDR | 0.8 | 0.8 | 0.8 |
APOGEE1 | Pathogenic | Pathogenic | Pathogenic |
APOGEE1 score | 0.78 | 0.57 | 0.72 |
APOGEE2 | Pathogenic | VUS- | Likely-pathogenic |
APOGEE2 score | 0.921769690195479 | 0.376546578641353 | 0.721816956160177 |
SNPDryad score | 1.0 | 0.83 | 1.0 |
MutationTaster | disease_causing_automatic | polymorphism | polymorphism |
MutationTaster score | 0 | 1 | 1 |
DEOGEN2 score | 0.26 | 0.1 | 0.26 |
Mitoclass.1 | damaging | damaging | damaging |
dbSNP 155 id | rs207460002 | . | . |
ClinVar July2022 Variation id | 9683 | . | . |
ClinVar July2022 CLNSIG | Pathogenic/Likely_pathogenic | . | . |
ClinVar July2022 CLNDN | Leber_optic_atrophy|Mitochondrial_myopathy_with_reversible_cytochrome_C_oxidase_deficiency|Multisystem_disorder | . | . |
ClinVar July2022 CLNDISDB | Human_Phenotype_Ontology:HP:0001086,Human_Phenotype_Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000,Orphanet:ORPHA104,SNOMED_CT:58610003|MONDO:MONDO:0010780,MedGen:C3151898,OMIM:500009,Orphanet:ORPHA254864|MedGen:C0559758 | . | . |
COSMIC 90 | . | . | . |
MITOMAP Allele | A15579G | . | . |
MITOMAP Disease Het/Hom | -/+ | . | . |
MITOMAP Disease Clinical info | Multisystem Disorder, EXIT | . | . |
MITOMAP Disease Status | Cfrm [VUS*] | . | . |
MITOMAP Disease GenBank Freq | 0.000%(0.000%) | . | . |
MITOMAP Disease GenBank Seqs | 0 (0) | . | . |
MITOMAP Disease GenBank Curated refs | 5 | . | . |
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 | 56432 | . | . |
HelixMTdb AC Hom | 0.0 | . | . |
HelixMTdb AF Hom | 0.0 | . | . |
HelixMTdb AC Het | 1.0 | . | . |
HelixMTdb AF Het | 5.1024836e-06 | . | . |
HelixMTdb mean ARF | 0.074713 | . | . | HelixMTdb max ARF | 0.074713 | . | . |
EVmutation | MT-CYB_278Y|280I:0.089519;282R:0.070415 | MT-CYB_278Y|280I:0.089519;282R:0.070415 | MT-CYB_278Y|280I:0.089519;282R:0.070415 |
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 | . | . | . |