~ | 14463 (T/G) | 14463 (T/A) | 14463 (T/C) |
---|---|---|---|
~ | 14463 (ACA/CCA) | 14463 (ACA/TCA) | 14463 (ACA/GCA) |
MitImpact id | MI.23746 | MI.23748 | MI.23747 |
Chr | chrM | chrM | chrM |
Start | 14463 | 14463 | 14463 |
Ref | T | T | T |
Alt | G | A | C |
Gene symbol | MT-ND6 | MT-ND6 | MT-ND6 |
Extended annotation | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
Gene position | 211 | 211 | 211 |
Gene start | 14149 | 14149 | 14149 |
Gene end | 14673 | 14673 | 14673 |
Gene strand | - | - | - |
Codon substitution | ACA/CCA | ACA/TCA | ACA/GCA |
AA position | 71 | 71 | 71 |
AA ref | T | T | T |
AA alt | P | S | A |
Functional effect general | missense | missense | missense |
Functional effect detailed | missense | missense | missense |
OMIM id | 516006 | 516006 | 516006 |
HGVS | NC_012920.1:g.14463T>G | NC_012920.1:g.14463T>A | NC_012920.1:g.14463T>C |
HGNC id | 7462 | 7462 | 7462 |
Respiratory Chain complex | I | I | I |
Ensembl gene id | ENSG00000198695 | ENSG00000198695 | ENSG00000198695 |
Ensembl transcript id | ENST00000361681 | ENST00000361681 | ENST00000361681 |
Ensembl protein id | ENSP00000354665 | ENSP00000354665 | ENSP00000354665 |
Uniprot id | P03923 | P03923 | P03923 |
Uniprot name | NU6M_HUMAN | NU6M_HUMAN | NU6M_HUMAN |
Ncbi gene id | 4541 | 4541 | 4541 |
Ncbi protein id | YP_003024037.1 | YP_003024037.1 | YP_003024037.1 |
PhyloP 100V | 0.553 | 0.553 | 0.553 |
PhyloP 470Way | 0.666 | 0.666 | 0.666 |
PhastCons 100V | 0.001 | 0.001 | 0.001 |
PhastCons 470Way | 0.983 | 0.983 | 0.983 |
PolyPhen2 | possibly_damaging | benign | benign |
PolyPhen2 score | 0.82 | 0.37 | 0.02 |
SIFT | neutral | neutral | neutral |
SIFT score | 0.16 | 0.77 | 1.0 |
SIFT4G | Damaging | Damaging | Tolerated |
SIFT4G score | 0.003 | 0.024 | 0.688 |
VEST | Neutral | Neutral | Neutral |
VEST pvalue | 0.15 | 0.37 | 0.32 |
VEST FDR | 0.4 | 0.5 | 0.5 |
Mitoclass.1 | damaging | neutral | neutral |
SNPDryad | Pathogenic | Neutral | Neutral |
SNPDryad score | 0.94 | 0.68 | 0.65 |
MutationTaster | Polymorphism | Polymorphism | Polymorphism |
MutationTaster score | 1 | 1 | 1 |
MutationTaster converted rankscore | 0.08975 | 0.08975 | 0.08975 |
MutationTaster model | simple_aae | simple_aae | simple_aae |
MutationTaster AAE | Y36S | Y36F | Y36C |
fathmm | Tolerated | Tolerated | Tolerated |
fathmm score | 2.21 | 2.35 | 2.3 |
fathmm converted rankscore | 0.18414 | 0.16217 | 0.16953 |
AlphaMissense | likely_pathogenic | likely_benign | likely_benign |
AlphaMissense score | 0.8941 | 0.2594 | 0.074 |
CADD | Deleterious | Neutral | Neutral |
CADD score | 3.629161 | 1.897424 | -0.054642 |
CADD phred | 23.2 | 15.57 | 2.091 |
PROVEAN | Damaging | Damaging | Damaging |
PROVEAN score | -5.29 | -3.32 | -3.79 |
MutationAssessor | medium | low | neutral |
MutationAssessor score | 2.405 | 1.055 | -0.485 |
EFIN SP | Neutral | Neutral | Neutral |
EFIN SP score | 0.696 | 0.814 | 0.91 |
EFIN HD | Neutral | Neutral | Neutral |
EFIN HD score | 0.284 | 0.716 | 0.926 |
MLC | Deleterious | Deleterious | Deleterious |
MLC score | 0.78948639 | 0.78948639 | 0.78948639 |
PANTHER score | . | . | . |
PhD-SNP score | . | . | . |
APOGEE1 | Neutral | Neutral | Neutral |
APOGEE1 score | 0.45 | 0.31 | 0.43 |
APOGEE2 | VUS+ | Likely-benign | Benign |
APOGEE2 score | 0.686120006597442 | 0.159702750750223 | 0.0348437504216969 |
CAROL | neutral | neutral | neutral |
CAROL score | 0.91 | 0.26 | 0.01 |
Condel | neutral | deleterious | deleterious |
Condel score | 0.17 | 0.7 | 0.99 |
COVEC WMV | . | neutral | neutral |
COVEC WMV score | 0 | -3 | -6 |
MtoolBox | deleterious | deleterious | neutral |
MtoolBox DS | 0.82 | 0.45 | 0.13 |
DEOGEN2 | Damaging | Damaging | Damaging |
DEOGEN2 score | 0.729353 | 0.517068 | 0.522818 |
DEOGEN2 converted rankscore | 0.92412 | 0.83039 | 0.83344 |
Meta-SNP | . | . | . |
Meta-SNP score | . | . | . |
PolyPhen2 transf | low impact | medium impact | medium impact |
PolyPhen2 transf score | -1.4 | -0.58 | 0.75 |
SIFT_transf | medium impact | medium impact | high impact |
SIFT transf score | -0.19 | 0.5 | 1.87 |
MutationAssessor transf | medium impact | medium impact | medium impact |
MutationAssessor transf score | 1.65 | 0.73 | -0.95 |
CHASM | Neutral | Neutral | Neutral |
CHASM pvalue | 0.77 | 0.79 | 0.62 |
CHASM FDR | 0.85 | 0.85 | 0.8 |
ClinVar id | . | . | . |
ClinVar Allele id | . | . | . |
ClinVar CLNDISDB | . | . | . |
ClinVar CLNDN | . | . | . |
ClinVar CLNSIG | . | . | . |
MITOMAP Disease Clinical info | . | . | . |
MITOMAP Disease Status | . | . | . |
MITOMAP Disease Hom/Het | ./. | ./. | ./. |
MITOMAP General GenBank Freq | 0.0016% | . | 0.0016% |
MITOMAP General GenBank Seqs | 1 | . | 1 |
MITOMAP General Curated refs | . | . | . |
MITOMAP Variant Class | polymorphism | . | polymorphism |
gnomAD 3.1 AN | . | . | 56431.0 |
gnomAD 3.1 AC Homo | . | . | 2.0 |
gnomAD 3.1 AF Hom | . | . | 3.54415e-05 |
gnomAD 3.1 AC Het | . | . | 1.0 |
gnomAD 3.1 AF Het | . | . | 1.77208e-05 |
gnomAD 3.1 filter | . | . | PASS |
HelixMTdb AC Hom | . | . | 15.0 |
HelixMTdb AF Hom | . | . | 7.653725e-05 |
HelixMTdb AC Het | . | . | 5.0 |
HelixMTdb AF Het | . | . | 2.5512418e-05 |
HelixMTdb mean ARF | . | . | 0.36579 |
HelixMTdb max ARF | . | . | 0.79137 |
ToMMo 54KJPN AC | . | . | . |
ToMMo 54KJPN AF | . | . | . |
ToMMo 54KJPN AN | . | . | . |
COSMIC 90 | . | . | . |
dbSNP 156 id | . | . | . |