| ~ | 14849 (T/C) | 14849 (T/A) | 14849 (T/G) |
|---|---|---|---|
| ~ | 14849 (Tca/Cca) | 14849 (Tca/Aca) | 14849 (Tca/Gca) |
| Chr | chrM | chrM | chrM |
| Start | 14849 | 14849 | 14849 |
| End | 14849 | 14849 | 14849 |
| Ref | T | T | T |
| Alt | C | A | G |
| MitImpact id | MI.8544 | MI.8543 | MI.8542 |
| 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 | 103 | 103 | 103 |
| AA position | 35 | 35 | 35 |
| AA ref | S | S | S |
| AA alt | P | T | A |
| Codon substitution | Tca/Cca | Tca/Aca | Tca/Gca |
| PhyloP 100V | 5.58506 | 5.58506 | 5.58506 |
| PhastCons 100V | 1 | 1 | 1 |
| PolyPhen2 | probably_damaging | possibly_damaging | probably_damaging |
| PolyPhen2 score | 0.98 | 0.86 | 0.92 |
| SIFT | neutral | neutral | neutral |
| SIFT score | 0.2 | 0.39 | 0.5 |
| SIFT4G | Damaging | Damaging | Damaging |
| SIFT4G score | 0.001 | 0 | 0.001 |
| FatHmm | deleterious | neutral | neutral |
| FatHmm score | -3.55 | -1.57 | -0.63 |
| FatHmmW | neutral | neutral | neutral |
| FatHmmW score | 4.41 | 4.46 | 4.53 |
| PROVEAN | deleterious | neutral | neutral |
| PROVEAN score | -3.71 | -2.23 | -2.22 |
| MutationAssessor | high impact | high impact | high impact |
| MutationAssessor score | 4.75 | 5.09 | 4 |
| EFIN SP | neutral | neutral | neutral |
| EFIN SP score | 0.93 | 0.86 | 0.88 |
| EFIN HD | damaging | damaging | damaging |
| EFIN HD score | 0.05 | 0.1 | 0.14 |
| CADD | deleterious | neutral | neutral |
| CADD score | 2.03 | 1.72 | 1.67 |
| CADD phred | 16.41 | 14.55 | 14.25 |
| VEST pvalue | 0.05 | 0.21 | 0.17 |
| VEST FDR | 0.35 | 0.45 | 0.45 |
| PANTHER | disease | disease | disease |
| PANTHER score | 0.77 | 0.65 | 0.55 |
| PhD-SNP | disease | disease | disease |
| PhD-SNP score | 0.92 | 0.82 | 0.78 |
| SNAP | disease | disease | disease |
| SNAP score | 0.75 | 0.65 | 0.59 |
| Meta-SNP | disease | disease | disease |
| Meta-SNP score | 0.76 | 0.68 | 0.67 |
| Meta-SNP RI | 5 | 4 | 3 |
| CAROL | deleterious | neutral | neutral |
| CAROL score | 0.99 | 0.87 | 0.91 |
| Condel | neutral | neutral | neutral |
| Condel score | 0.11 | 0.27 | 0.29 |
| COVEC WMV | deleterious | deleterious | deleterious |
| COVEC WMV score | 2 | 1 | 2 |
| MtoolBox | deleterious | deleterious | deleterious |
| MtoolBox DS | 0.85 | 0.74 | 0.67 |
| PolyPhen2 transf | low impact | low impact | low impact |
| PolyPhen2 transf score | -2.31 | -1.47 | -1.72 |
| SIFT_transf | medium impact | medium impact | medium impact |
| SIFT transf score | -0.1 | 0.12 | 0.22 |
| MutationAssessor transf | high impact | high impact | high impact |
| MutationAssessor transf score | 3.12 | 3.43 | 2.44 |
| CHASM pvalue | 0.34 | 0.68 | 0.57 |
| CHASM FDR | 0.8 | 0.85 | 0.8 |
| APOGEE1 | Pathogenic | Pathogenic | Neutral |
| APOGEE1 score | 0.74 | 0.62 | 0.27 |
| APOGEE2 | Likely-pathogenic | VUS | VUS- |
| APOGEE2 score | 0.870561634442856 | 0.454124720475434 | 0.28023182248624 |
| SNPDryad score | 1.0 | 0.7 | 0.46 |
| MutationTaster | disease_causing_automatic | polymorphism | polymorphism |
| MutationTaster score | 0 | 1 | 1 |
| DEOGEN2 score | 0.12 | 0.11 | 0.02 |
| Mitoclass.1 | damaging | damaging | damaging |
| dbSNP 155 id | rs207460004 | . | . |
| ClinVar July2022 Variation id | 9685 | . | . |
| ClinVar July2022 CLNSIG | Uncertain_significance | . | . |
| ClinVar July2022 CLNDN | Leigh_syndrome|Mitochondrial_disease|Exercise_intolerance,_cardiomyopathy,_and_septooptic_dysplasia | . | . |
| ClinVar July2022 CLNDISDB | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:ORPHA68380|MedGen:C4016599 | . | . |
| COSMIC 90 | . | . | . |
| MITOMAP Allele | T14849C | . | . |
| MITOMAP Disease Het/Hom | -/+ | . | . |
| MITOMAP Disease Clinical info | EXIT / Septo-Optic Dysplasia | . | . |
| MITOMAP Disease Status | Cfrm [VUS*] | . | . |
| MITOMAP Disease GenBank Freq | 0.000%(0.000%) | . | . |
| MITOMAP Disease GenBank Seqs | 0 (0) | . | . |
| MITOMAP Disease GenBank Curated refs | 3 | . | . |
| 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 | 56431 | . | . |
| HelixMTdb AC Hom | . | . | . |
| HelixMTdb AF Hom | . | . | . |
| HelixMTdb AC Het | . | . | . |
| HelixMTdb AF Het | . | . | . |
| HelixMTdb mean ARF | . | . | . | HelixMTdb max ARF | . | . | . |
| EVmutation | MT-CYB_35S|38G:0.102964;205S:0.096786;197L:0.080213;39A:0.077649;36L:0.071004;198L:0.064059 | MT-CYB_35S|38G:0.102964;205S:0.096786;197L:0.080213;39A:0.077649;36L:0.071004;198L:0.064059 | MT-CYB_35S|38G:0.102964;205S:0.096786;197L:0.080213;39A:0.077649;36L:0.071004;198L:0.064059 |
| 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 | . | . | . |
