MT-ND1 · c.1A>C (p.Met1Leu)
protein-coding
MT-ND1 · protein-coding
protein
tRNA
rRNA
D-loop
highlighted: residue
1 of MT-ND1 · drag to rotate, scroll to zoom.
| Variant ID |
MITHRIL.9919
|
| MitImpact ID |
MI.10755
|
| Chromosome |
chrM
|
| Position |
3307
|
| Alleles (Ref/Alt) |
A/C
|
| Molecule type |
protein-coding
|
| Gene |
MT-ND1
|
| Gene description |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
|
| Gene (start-end) |
3307-4262
|
| Position within gene |
1
|
| Strand |
+
|
| HGVS |
NC_012920.1:m.3307A>C
|
| Functional effect |
Start lost
|
| Respiratory chain complex |
I
|
| PhyloP (100V) |
3.333
|
| PhastCons (100V) |
0.981
|
| PhyloP (470-way) |
0.58
|
| PhastCons (470-way) |
0.225
|
| Codon substitution |
ATA/CTA
|
| Reference AA |
M
|
| Alternate AA |
L
|
| AA position |
1
|
| PolyPhen-2 |
Probably damaging
|
| SIFT |
Deleterious
|
| SIFT4G |
Neutral
|
| PROVEAN |
Neutral
|
| MutationTaster |
Disease causing
|
| EFIN (SwissProt) |
Neutral
|
| EFIN (HumDiv) |
Deleterious
|
| LIST-S2 |
Deleterious
|
| ESM1b |
Neutral
|
| SNPDryad |
Neutral
|
| Mitoclass1 |
Neutral
|
| CADD |
Neutral
|
| VEST |
Neutral
|
| MLC |
Deleterious
|
| APOGEE1 |
Deleterious
|
| APOGEE2 |
VUS-
|
| CAROL |
Deleterious
|
| Condel |
Neutral
|
| COVEC WMV |
Deleterious
|
| MToolBox |
Deleterious
|
| DEOGEN2 |
Neutral
|
| MITOMAP known variant |
True
|
| MITOMAP GenBank freq (seqs) |
0 (0)
|
| HelixMTdb hom AF (AC) |
0 (1)
|
| HelixMTdb het AF (AC) |
0 (0)
|
| ToMMo 61KJPN AF (AC) |
0 (2)
|
| ToMMo 61KJPN AN |
61424
|
| ΔΔG intra |
MT-ND1:M1L:I166F:1.36476:0.192435:1.16217;MT-ND1:M1L:I166V:0.661174:0.192435:0.715933;MT-ND1:M1L:I166M:-0.418223:0.192435:-0.594445;MT-ND1:M1L:I166T:0.84114:0.192435:0.604375;MT-ND1:M1L:I166S:0.937385:0.192435:0.970766;MT-ND1:M1L:I166L:-0.179628:0.192435:-0.420996;MT-ND1:M1L:I166N:1.93474:0.192435:1.63769;MT-ND1:M1L:A201G:0.862901:0.192435:0.725;MT-ND1:M1L:A201P:-0.656027:0.192435:-0.598678;MT-ND1:M1L:A201V:2.62898:0.192435:2.44106;MT-ND1:M1L:A201T:3.40554:0.192435:3.20878;MT-ND1:M1L:A201D:4.71536:0.192435:4.42968;MT-ND1:M1L:A201S:0.474202:0.192435:0.373424;MT-ND1:M1L:A249V:0.617033:0.192435:0.387706;MT-ND1:M1L:A249P:-0.77212:0.192435:-0.969457;MT-ND1:M1L:A249E:0.257047:0.192435:-0.081467;MT-ND1:M1L:A249G:0.477486:0.192435:0.24999;MT-ND1:M1L:A249T:0.779175:0.192435:0.585672;MT-ND1:M1L:A249S:0.635345:0.192435:0.416877;MT-ND1:M1L:P2R:0.900436:0.192435:0.63914;MT-ND1:M1L:P2H:1.04822:0.192435:0.926272;MT-ND1:M1L:P2L:0.33879:0.192435:0.109703;MT-ND1:M1L:P2T:0.36449:0.192435:0.178692;MT-ND1:M1L:P2A:0.613412:0.192435:0.449523;MT-ND1:M1L:P2S:0.21351:0.192435:0.119094;MT-ND1:M1L:M3V:1.05132:0.192435:0.898191;MT-ND1:M1L:M3T:1.55474:0.192435:1.3373;MT-ND1:M1L:M3I:0.527411:0.192435:0.24161;MT-ND1:M1L:M3K:0.720049:0.192435:0.647219;MT-ND1:M1L:M3L:0.255773:0.192435:0.320405
|
| ΔΔG intra-interface |
MT-ND1:NDUFA1:5lc5:H:a:M1L:A249E:1.38641:1.35322:0.01115;MT-ND1:NDUFA1:5lc5:H:a:M1L:A249G:1.44097:1.35322:-0.0572;MT-ND1:NDUFA1:5lc5:H:a:M1L:A249P:1.51825:1.35322:-0.00503;MT-ND1:NDUFA1:5lc5:H:a:M1L:A249S:1.2709:1.35322:-0.08213;MT-ND1:NDUFA1:5lc5:H:a:M1L:A249T:1.6929:1.35322:0.19588;MT-ND1:NDUFA1:5lc5:H:a:M1L:A249V:1.3148:1.35322:0.16957;MT-ND1:NDUFA1:5ldw:H:a:M1L:A249E:0.67155:0.9567:0.02682;MT-ND1:NDUFA1:5ldw:H:a:M1L:A249G:1.14673:0.9567:0.38432;MT-ND1:NDUFA1:5ldw:H:a:M1L:A249P:0.56007:0.9567:-0.0544;MT-ND1:NDUFA1:5ldw:H:a:M1L:A249S:0.17561:0.9567:-0.69158;MT-ND1:NDUFA1:5ldw:H:a:M1L:A249T:0.80157:0.9567:0.24228;MT-ND1:NDUFA1:5ldw:H:a:M1L:A249V:1.14937:0.9567:0.18985
|
Same protein (MT-ND1); edge ∝ covariation score.
Show all 18 as text
- 4: 32.9132 (mfDCA)
- 175: 30.1899 (mfDCA)
- 2: 29.9569 (mfDCA)
- 239: 27.6626 (mfDCA)
- 239: 27.6626 (mfDCA)
- 263: 27.31 (mfDCA)
- 9: 26.4013 (cMI)
- 300: 23.2395 (mfDCA)
- 3: 23.1959 (mfDCA)
- 3: 23.1959 (mfDCA)
- 166: 22.8794 (mfDCA)
- 166: 22.8794 (mfDCA)
- 5: 20.0005 (cMI)
- 201: 18.6094 (mfDCA)
- 10: 17.4958 (cMI)
- 14: 17.3247 (cMI)
- 249: 14.8015 (mfDCA)
- 12: 13.6194 (cMI)
MT-ND1 · c.1A>T (p.Met1Leu)
protein-coding
MT-ND1 · protein-coding
protein
tRNA
rRNA
D-loop
highlighted: residue
1 of MT-ND1 · drag to rotate, scroll to zoom.
| Variant ID |
MITHRIL.9921
|
| MitImpact ID |
MI.10756
|
| Chromosome |
chrM
|
| Position |
3307
|
| Alleles (Ref/Alt) |
A/T
|
| Molecule type |
protein-coding
|
| Gene |
MT-ND1
|
| Gene description |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
|
| Gene (start-end) |
3307-4262
|
| Position within gene |
1
|
| Strand |
+
|
| HGVS |
NC_012920.1:m.3307A>T
|
| Functional effect |
Start lost
|
| Respiratory chain complex |
I
|
| PhyloP (100V) |
3.333
|
| PhastCons (100V) |
0.981
|
| PhyloP (470-way) |
0.58
|
| PhastCons (470-way) |
0.225
|
| Codon substitution |
ATA/TTA
|
| Reference AA |
M
|
| Alternate AA |
L
|
| AA position |
1
|
| PolyPhen-2 |
Probably damaging
|
| SIFT |
Deleterious
|
| SIFT4G |
Neutral
|
| PROVEAN |
Neutral
|
| MutationTaster |
Disease causing
|
| EFIN (SwissProt) |
Neutral
|
| EFIN (HumDiv) |
Deleterious
|
| LIST-S2 |
Deleterious
|
| ESM1b |
Neutral
|
| SNPDryad |
Neutral
|
| Mitoclass1 |
Neutral
|
| CADD |
Neutral
|
| VEST |
Neutral
|
| MLC |
Deleterious
|
| APOGEE1 |
Deleterious
|
| APOGEE2 |
VUS-
|
| CAROL |
Deleterious
|
| Condel |
Neutral
|
| COVEC WMV |
Deleterious
|
| MToolBox |
Deleterious
|
| DEOGEN2 |
Neutral
|
| ClinVar significance |
Uncertain significance
|
| ClinVar disease |
|
| ClinVar ID (allele ID) |
692328 (680864)
|
| ClinVar disease DB |
|
| ClinVar submitter IDs |
|
| MITOMAP known variant |
True
|
| MITOMAP GenBank freq (seqs) |
0 (0)
|
| ΔΔG intra |
MT-ND1:M1L:I166F:1.36476:0.192435:1.16217;MT-ND1:M1L:I166V:0.661174:0.192435:0.715933;MT-ND1:M1L:I166M:-0.418223:0.192435:-0.594445;MT-ND1:M1L:I166T:0.84114:0.192435:0.604375;MT-ND1:M1L:I166S:0.937385:0.192435:0.970766;MT-ND1:M1L:I166L:-0.179628:0.192435:-0.420996;MT-ND1:M1L:I166N:1.93474:0.192435:1.63769;MT-ND1:M1L:A201G:0.862901:0.192435:0.725;MT-ND1:M1L:A201P:-0.656027:0.192435:-0.598678;MT-ND1:M1L:A201V:2.62898:0.192435:2.44106;MT-ND1:M1L:A201T:3.40554:0.192435:3.20878;MT-ND1:M1L:A201D:4.71536:0.192435:4.42968;MT-ND1:M1L:A201S:0.474202:0.192435:0.373424;MT-ND1:M1L:A249V:0.617033:0.192435:0.387706;MT-ND1:M1L:A249P:-0.77212:0.192435:-0.969457;MT-ND1:M1L:A249E:0.257047:0.192435:-0.081467;MT-ND1:M1L:A249G:0.477486:0.192435:0.24999;MT-ND1:M1L:A249T:0.779175:0.192435:0.585672;MT-ND1:M1L:A249S:0.635345:0.192435:0.416877;MT-ND1:M1L:P2R:0.900436:0.192435:0.63914;MT-ND1:M1L:P2H:1.04822:0.192435:0.926272;MT-ND1:M1L:P2L:0.33879:0.192435:0.109703;MT-ND1:M1L:P2T:0.36449:0.192435:0.178692;MT-ND1:M1L:P2A:0.613412:0.192435:0.449523;MT-ND1:M1L:P2S:0.21351:0.192435:0.119094;MT-ND1:M1L:M3V:1.05132:0.192435:0.898191;MT-ND1:M1L:M3T:1.55474:0.192435:1.3373;MT-ND1:M1L:M3I:0.527411:0.192435:0.24161;MT-ND1:M1L:M3K:0.720049:0.192435:0.647219;MT-ND1:M1L:M3L:0.255773:0.192435:0.320405
|
| ΔΔG intra-interface |
MT-ND1:NDUFA1:5lc5:H:a:M1L:A249E:1.38641:1.35322:0.01115;MT-ND1:NDUFA1:5lc5:H:a:M1L:A249G:1.44097:1.35322:-0.0572;MT-ND1:NDUFA1:5lc5:H:a:M1L:A249P:1.51825:1.35322:-0.00503;MT-ND1:NDUFA1:5lc5:H:a:M1L:A249S:1.2709:1.35322:-0.08213;MT-ND1:NDUFA1:5lc5:H:a:M1L:A249T:1.6929:1.35322:0.19588;MT-ND1:NDUFA1:5lc5:H:a:M1L:A249V:1.3148:1.35322:0.16957;MT-ND1:NDUFA1:5ldw:H:a:M1L:A249E:0.67155:0.9567:0.02682;MT-ND1:NDUFA1:5ldw:H:a:M1L:A249G:1.14673:0.9567:0.38432;MT-ND1:NDUFA1:5ldw:H:a:M1L:A249P:0.56007:0.9567:-0.0544;MT-ND1:NDUFA1:5ldw:H:a:M1L:A249S:0.17561:0.9567:-0.69158;MT-ND1:NDUFA1:5ldw:H:a:M1L:A249T:0.80157:0.9567:0.24228;MT-ND1:NDUFA1:5ldw:H:a:M1L:A249V:1.14937:0.9567:0.18985
|
Same protein (MT-ND1); edge ∝ covariation score.
Show all 18 as text
- 4: 32.9132 (mfDCA)
- 175: 30.1899 (mfDCA)
- 2: 29.9569 (mfDCA)
- 239: 27.6626 (mfDCA)
- 239: 27.6626 (mfDCA)
- 263: 27.31 (mfDCA)
- 9: 26.4013 (cMI)
- 300: 23.2395 (mfDCA)
- 3: 23.1959 (mfDCA)
- 3: 23.1959 (mfDCA)
- 166: 22.8794 (mfDCA)
- 166: 22.8794 (mfDCA)
- 5: 20.0005 (cMI)
- 201: 18.6094 (mfDCA)
- 10: 17.4958 (cMI)
- 14: 17.3247 (cMI)
- 249: 14.8015 (mfDCA)
- 12: 13.6194 (cMI)
MT-ND1 · c.1A>G (p.Met1Val)
protein-coding
MT-ND1 · protein-coding
protein
tRNA
rRNA
D-loop
highlighted: residue
1 of MT-ND1 · drag to rotate, scroll to zoom.
| Variant ID |
MITHRIL.9920
|
| MitImpact ID |
MI.10757
|
| Chromosome |
chrM
|
| Position |
3307
|
| Alleles (Ref/Alt) |
A/G
|
| Molecule type |
protein-coding
|
| Gene |
MT-ND1
|
| Gene description |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
|
| Gene (start-end) |
3307-4262
|
| Position within gene |
1
|
| Strand |
+
|
| HGVS |
NC_012920.1:m.3307A>G
|
| Functional effect |
Start lost
|
| Respiratory chain complex |
I
|
| PhyloP (100V) |
3.333
|
| PhastCons (100V) |
0.981
|
| PhyloP (470-way) |
0.58
|
| PhastCons (470-way) |
0.225
|
| Codon substitution |
ATA/GTA
|
| Reference AA |
M
|
| Alternate AA |
V
|
| AA position |
1
|
| PolyPhen-2 |
Probably damaging
|
| SIFT |
Deleterious
|
| SIFT4G |
Deleterious
|
| PROVEAN |
Neutral
|
| MutationTaster |
Disease causing
|
| EFIN (SwissProt) |
Neutral
|
| EFIN (HumDiv) |
Deleterious
|
| LIST-S2 |
Deleterious
|
| ESM1b |
Deleterious
|
| SNPDryad |
Neutral
|
| Mitoclass1 |
Neutral
|
| CADD |
Neutral
|
| VEST |
Neutral
|
| MLC |
Deleterious
|
| APOGEE1 |
Neutral
|
| APOGEE2 |
VUS-
|
| CAROL |
Deleterious
|
| Condel |
Neutral
|
| COVEC WMV |
Deleterious
|
| MToolBox |
Deleterious
|
| DEOGEN2 |
Neutral
|
| MITOMAP known variant |
True
|
| MITOMAP GenBank freq (seqs) |
0 (0)
|
| HelixMTdb hom AF (AC) |
0 (1)
|
| HelixMTdb het AF (AC) |
0 (2)
|
| HelixMTdb mean (max) ARF |
0.2725 (0.3143)
|
| ToMMo 61KJPN AF (AC) |
0.0001 (7)
|
| ToMMo 61KJPN AN |
61424
|
| ΔΔG intra |
MT-ND1:M1V:I166M:0.277031:0.759875:-0.594445;MT-ND1:M1V:I166S:1.7578:0.759875:0.970766;MT-ND1:M1V:I166V:1.40747:0.759875:0.715933;MT-ND1:M1V:I166N:2.31538:0.759875:1.63769;MT-ND1:M1V:I166L:0.418773:0.759875:-0.420996;MT-ND1:M1V:I166T:1.378:0.759875:0.604375;MT-ND1:M1V:I166F:2.75275:0.759875:1.16217;MT-ND1:M1V:A201S:0.915995:0.759875:0.373424;MT-ND1:M1V:A201G:1.49446:0.759875:0.725;MT-ND1:M1V:A201T:4.08641:0.759875:3.20878;MT-ND1:M1V:A201P:0.270235:0.759875:-0.598678;MT-ND1:M1V:A201V:2.83817:0.759875:2.44106;MT-ND1:M1V:A201D:5.29905:0.759875:4.42968;MT-ND1:M1V:A249S:1.13875:0.759875:0.416877;MT-ND1:M1V:A249G:1.04452:0.759875:0.24999;MT-ND1:M1V:A249P:-0.167069:0.759875:-0.969457;MT-ND1:M1V:A249E:0.742468:0.759875:-0.081467;MT-ND1:M1V:A249T:1.38222:0.759875:0.585672;MT-ND1:M1V:A249V:1.17759:0.759875:0.387706;MT-ND1:M1V:P2L:0.659442:0.759875:0.109703;MT-ND1:M1V:P2S:0.76812:0.759875:0.119094;MT-ND1:M1V:P2H:1.44649:0.759875:0.926272;MT-ND1:M1V:P2A:1.07527:0.759875:0.449523;MT-ND1:M1V:P2T:0.801573:0.759875:0.178692;MT-ND1:M1V:P2R:1.35817:0.759875:0.63914;MT-ND1:M1V:M3L:0.863955:0.759875:0.320405;MT-ND1:M1V:M3T:1.87594:0.759875:1.3373;MT-ND1:M1V:M3I:0.977522:0.759875:0.24161;MT-ND1:M1V:M3V:1.56252:0.759875:0.898191;MT-ND1:M1V:M3K:1.3029:0.759875:0.647219
|
| ΔΔG intra-interface |
MT-ND1:NDUFA1:5lc5:H:a:M1V:A249E:1.409:1.30255:0.01115;MT-ND1:NDUFA1:5lc5:H:a:M1V:A249G:1.23839:1.30255:-0.0572;MT-ND1:NDUFA1:5lc5:H:a:M1V:A249P:1.40141:1.30255:-0.00503;MT-ND1:NDUFA1:5lc5:H:a:M1V:A249S:1.17536:1.30255:-0.08213;MT-ND1:NDUFA1:5lc5:H:a:M1V:A249T:1.49079:1.30255:0.19588;MT-ND1:NDUFA1:5lc5:H:a:M1V:A249V:1.55048:1.30255:0.16957;MT-ND1:NDUFA1:5ldw:H:a:M1V:A249E:0.78826:0.61909:0.02682;MT-ND1:NDUFA1:5ldw:H:a:M1V:A249G:1.29683:0.61909:0.38432;MT-ND1:NDUFA1:5ldw:H:a:M1V:A249P:0.82579:0.61909:-0.0544;MT-ND1:NDUFA1:5ldw:H:a:M1V:A249S:-0.23898:0.61909:-0.69158;MT-ND1:NDUFA1:5ldw:H:a:M1V:A249T:0.602:0.61909:0.24228;MT-ND1:NDUFA1:5ldw:H:a:M1V:A249V:0.64306:0.61909:0.18985
|
Same protein (MT-ND1); edge ∝ covariation score.
Show all 18 as text
- 4: 32.9132 (mfDCA)
- 175: 30.1899 (mfDCA)
- 2: 29.9569 (mfDCA)
- 239: 27.6626 (mfDCA)
- 239: 27.6626 (mfDCA)
- 263: 27.31 (mfDCA)
- 9: 26.4013 (cMI)
- 300: 23.2395 (mfDCA)
- 3: 23.1959 (mfDCA)
- 3: 23.1959 (mfDCA)
- 166: 22.8794 (mfDCA)
- 166: 22.8794 (mfDCA)
- 5: 20.0005 (cMI)
- 201: 18.6094 (mfDCA)
- 10: 17.4958 (cMI)
- 14: 17.3247 (cMI)
- 249: 14.8015 (mfDCA)
- 12: 13.6194 (cMI)
MT-ND1 · c.2T>A (p.Met1Lys)
protein-coding
MT-ND1 · protein-coding
protein
tRNA
rRNA
D-loop
highlighted: residue
1 of MT-ND1 · drag to rotate, scroll to zoom.
| Variant ID |
MITHRIL.9922
|
| MitImpact ID |
MI.10759
|
| Chromosome |
chrM
|
| Position |
3308
|
| Alleles (Ref/Alt) |
T/A
|
| Molecule type |
protein-coding
|
| Gene |
MT-ND1
|
| Gene description |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
|
| Gene (start-end) |
3307-4262
|
| Position within gene |
2
|
| Strand |
+
|
| HGVS |
NC_012920.1:m.3308T>A
|
| Functional effect |
Start lost
|
| Respiratory chain complex |
I
|
| PhyloP (100V) |
4.722
|
| PhastCons (100V) |
1
|
| PhyloP (470-way) |
0.458
|
| PhastCons (470-way) |
0.156
|
| Codon substitution |
ATA/AAA
|
| Reference AA |
M
|
| Alternate AA |
K
|
| AA position |
1
|
| PolyPhen-2 |
Probably damaging
|
| SIFT |
Deleterious
|
| SIFT4G |
Deleterious
|
| PROVEAN |
Neutral
|
| MutationTaster |
Polymorphism
|
| EFIN (SwissProt) |
Deleterious
|
| EFIN (HumDiv) |
Deleterious
|
| LIST-S2 |
Deleterious
|
| ESM1b |
Deleterious
|
| SNPDryad |
Neutral
|
| Mitoclass1 |
Deleterious
|
| CADD |
Deleterious
|
| VEST |
Neutral
|
| MLC |
Deleterious
|
| APOGEE1 |
Deleterious
|
| APOGEE2 |
VUS
|
| CAROL |
Deleterious
|
| Condel |
Neutral
|
| COVEC WMV |
Deleterious
|
| MToolBox |
Deleterious
|
| DEOGEN2 |
Neutral
|
| MITOMAP known variant |
True
|
| MITOMAP GenBank freq (seqs) |
0.0015 (1)
|
| gnomAD hom AF (AC) |
0 (0)
|
| gnomAD het AF (AC) |
0 (1)
|
| gnomAD AN |
56434
|
| gnomAD filter |
PASS
|
| ΔΔG intra |
MT-ND1:M1K:I166V:1.2141:0.544385:0.715933;MT-ND1:M1K:I166F:2.26877:0.544385:1.16217;MT-ND1:M1K:I166S:1.50615:0.544385:0.970766;MT-ND1:M1K:I166N:2.17919:0.544385:1.63769;MT-ND1:M1K:I166M:-0.0330956:0.544385:-0.594445;MT-ND1:M1K:I166T:1.16283:0.544385:0.604375;MT-ND1:M1K:I166L:0.101128:0.544385:-0.420996;MT-ND1:M1K:A201T:3.91511:0.544385:3.20878;MT-ND1:M1K:A201V:3.03479:0.544385:2.44106;MT-ND1:M1K:A201P:-0.0711865:0.544385:-0.598678;MT-ND1:M1K:A201S:0.864929:0.544385:0.373424;MT-ND1:M1K:A201G:1.33827:0.544385:0.725;MT-ND1:M1K:A201D:5.12657:0.544385:4.42968;MT-ND1:M1K:A249P:-0.435081:0.544385:-0.969457;MT-ND1:M1K:A249T:1.14379:0.544385:0.585672;MT-ND1:M1K:A249V:0.960045:0.544385:0.387706;MT-ND1:M1K:A249G:0.821539:0.544385:0.24999;MT-ND1:M1K:A249E:0.485493:0.544385:-0.081467;MT-ND1:M1K:A249S:0.990487:0.544385:0.416877;MT-ND1:M1K:P2S:0.506443:0.544385:0.119094;MT-ND1:M1K:P2R:1.07653:0.544385:0.63914;MT-ND1:M1K:P2H:1.28887:0.544385:0.926272;MT-ND1:M1K:P2L:0.48012:0.544385:0.109703;MT-ND1:M1K:P2T:0.593396:0.544385:0.178692;MT-ND1:M1K:P2A:0.828089:0.544385:0.449523;MT-ND1:M1K:M3T:1.45824:0.544385:1.3373;MT-ND1:M1K:M3V:1.13507:0.544385:0.898191;MT-ND1:M1K:M3L:0.829577:0.544385:0.320405;MT-ND1:M1K:M3K:1.14476:0.544385:0.647219;MT-ND1:M1K:M3I:0.559036:0.544385:0.24161
|
| ΔΔG intra-interface |
MT-ND1:NDUFA1:5lc5:H:a:M1K:A249E:1.31765:1.21844:0.01115;MT-ND1:NDUFA1:5lc5:H:a:M1K:A249G:0.89961:1.21844:-0.0572;MT-ND1:NDUFA1:5lc5:H:a:M1K:A249P:1.32201:1.21844:-0.00503;MT-ND1:NDUFA1:5lc5:H:a:M1K:A249S:0.93127:1.21844:-0.08213;MT-ND1:NDUFA1:5lc5:H:a:M1K:A249T:1.43994:1.21844:0.19588;MT-ND1:NDUFA1:5lc5:H:a:M1K:A249V:1.57422:1.21844:0.16957;MT-ND1:NDUFA1:5ldw:H:a:M1K:A249E:0.28214:0.39346:0.02682;MT-ND1:NDUFA1:5ldw:H:a:M1K:A249G:0.91338:0.39346:0.38432;MT-ND1:NDUFA1:5ldw:H:a:M1K:A249P:0.46572:0.39346:-0.0544;MT-ND1:NDUFA1:5ldw:H:a:M1K:A249S:0.33555:0.39346:-0.69158;MT-ND1:NDUFA1:5ldw:H:a:M1K:A249T:0.67256:0.39346:0.24228;MT-ND1:NDUFA1:5ldw:H:a:M1K:A249V:0.65565:0.39346:0.18985
|
Same protein (MT-ND1); edge ∝ covariation score.
Show all 18 as text
- 4: 32.9132 (mfDCA)
- 175: 30.1899 (mfDCA)
- 2: 29.9569 (mfDCA)
- 239: 27.6626 (mfDCA)
- 239: 27.6626 (mfDCA)
- 263: 27.31 (mfDCA)
- 9: 26.4013 (cMI)
- 300: 23.2395 (mfDCA)
- 3: 23.1959 (mfDCA)
- 3: 23.1959 (mfDCA)
- 166: 22.8794 (mfDCA)
- 166: 22.8794 (mfDCA)
- 5: 20.0005 (cMI)
- 201: 18.6094 (mfDCA)
- 10: 17.4958 (cMI)
- 14: 17.3247 (cMI)
- 249: 14.8015 (mfDCA)
- 12: 13.6194 (cMI)
MT-ND1 · c.3A>C (p.Met1Ile)
protein-coding
MT-ND1 · protein-coding
protein
tRNA
rRNA
D-loop
highlighted: residue
1 of MT-ND1 · drag to rotate, scroll to zoom.
| Variant ID |
MITHRIL.9925
|
| MitImpact ID |
MI.10761
|
| Chromosome |
chrM
|
| Position |
3309
|
| Alleles (Ref/Alt) |
A/C
|
| Molecule type |
protein-coding
|
| Gene |
MT-ND1
|
| Gene description |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
|
| Gene (start-end) |
3307-4262
|
| Position within gene |
3
|
| Strand |
+
|
| HGVS |
NC_012920.1:m.3309A>C
|
| Functional effect |
Initiator codon variant
|
| Functional effect (detailed) |
Initiator codon variant;WARNING
|
| Respiratory chain complex |
I
|
| PhyloP (100V) |
3.182
|
| PhastCons (100V) |
1
|
| PhyloP (470-way) |
-0.331
|
| PhastCons (470-way) |
0.057
|
| Codon substitution |
ATA/ATC
|
| Reference AA |
M
|
| Alternate AA |
I
|
| AA position |
1
|
| PolyPhen-2 |
Probably damaging
|
| SIFT |
Deleterious
|
| SIFT4G |
Deleterious
|
| PROVEAN |
Neutral
|
| MutationTaster |
Disease causing
|
| EFIN (SwissProt) |
Deleterious
|
| EFIN (HumDiv) |
Deleterious
|
| LIST-S2 |
Deleterious
|
| ESM1b |
Neutral
|
| SNPDryad |
Neutral
|
| Mitoclass1 |
Neutral
|
| CADD |
Neutral
|
| VEST |
Neutral
|
| MLC |
Deleterious
|
| APOGEE1 |
Deleterious
|
| APOGEE2 |
VUS-
|
| CAROL |
Deleterious
|
| Condel |
Neutral
|
| COVEC WMV |
Deleterious
|
| MToolBox |
Deleterious
|
| DEOGEN2 |
Neutral
|
| MITOMAP known variant |
False
|
| ΔΔG intra |
MT-ND1:M1I:I166S:1.64091:0.696801:0.970766;MT-ND1:M1I:I166M:0.197699:0.696801:-0.594445;MT-ND1:M1I:I166F:2.75691:0.696801:1.16217;MT-ND1:M1I:I166L:0.331566:0.696801:-0.420996;MT-ND1:M1I:I166N:2.37462:0.696801:1.63769;MT-ND1:M1I:I166T:1.3133:0.696801:0.604375;MT-ND1:M1I:I166V:1.32601:0.696801:0.715933;MT-ND1:M1I:A201D:5.44404:0.696801:4.42968;MT-ND1:M1I:A201V:3.28086:0.696801:2.44106;MT-ND1:M1I:A201T:3.8683:0.696801:3.20878;MT-ND1:M1I:A201P:0.214743:0.696801:-0.598678;MT-ND1:M1I:A201G:1.46834:0.696801:0.725;MT-ND1:M1I:A201S:0.994439:0.696801:0.373424;MT-ND1:M1I:A249G:0.940721:0.696801:0.24999;MT-ND1:M1I:A249T:1.26725:0.696801:0.585672;MT-ND1:M1I:A249E:0.776841:0.696801:-0.081467;MT-ND1:M1I:A249V:1.12623:0.696801:0.387706;MT-ND1:M1I:A249P:-0.226368:0.696801:-0.969457;MT-ND1:M1I:A249S:1.16372:0.696801:0.416877;MT-ND1:M1I:P2S:0.664649:0.696801:0.119094;MT-ND1:M1I:P2H:1.3433:0.696801:0.926272;MT-ND1:M1I:P2L:0.510437:0.696801:0.109703;MT-ND1:M1I:P2A:0.945025:0.696801:0.449523;MT-ND1:M1I:P2R:1.28624:0.696801:0.63914;MT-ND1:M1I:P2T:0.706936:0.696801:0.178692;MT-ND1:M1I:M3I:0.912034:0.696801:0.24161;MT-ND1:M1I:M3K:1.29665:0.696801:0.647219;MT-ND1:M1I:M3L:0.83847:0.696801:0.320405;MT-ND1:M1I:M3T:1.8104:0.696801:1.3373;MT-ND1:M1I:M3V:1.4542:0.696801:0.898191
|
| ΔΔG intra-interface |
MT-ND1:NDUFA1:5lc5:H:a:M1I:A249E:1.03311:1.05275:0.01115;MT-ND1:NDUFA1:5lc5:H:a:M1I:A249G:0.95399:1.05275:-0.0572;MT-ND1:NDUFA1:5lc5:H:a:M1I:A249P:0.98433:1.05275:-0.00503;MT-ND1:NDUFA1:5lc5:H:a:M1I:A249S:0.93231:1.05275:-0.08213;MT-ND1:NDUFA1:5lc5:H:a:M1I:A249T:1.07445:1.05275:0.19588;MT-ND1:NDUFA1:5lc5:H:a:M1I:A249V:1.29754:1.05275:0.16957;MT-ND1:NDUFA1:5ldw:H:a:M1I:A249E:0.31294:0.03068:0.02682;MT-ND1:NDUFA1:5ldw:H:a:M1I:A249G:0.84165:0.03068:0.38432;MT-ND1:NDUFA1:5ldw:H:a:M1I:A249P:0.65404:0.03068:-0.0544;MT-ND1:NDUFA1:5ldw:H:a:M1I:A249S:-0.46109:0.03068:-0.69158;MT-ND1:NDUFA1:5ldw:H:a:M1I:A249T:0.54385:0.03068:0.24228;MT-ND1:NDUFA1:5ldw:H:a:M1I:A249V:0.46123:0.03068:0.18985
|
Same protein (MT-ND1); edge ∝ covariation score.
Show all 18 as text
- 4: 32.9132 (mfDCA)
- 175: 30.1899 (mfDCA)
- 2: 29.9569 (mfDCA)
- 239: 27.6626 (mfDCA)
- 239: 27.6626 (mfDCA)
- 263: 27.31 (mfDCA)
- 9: 26.4013 (cMI)
- 300: 23.2395 (mfDCA)
- 3: 23.1959 (mfDCA)
- 3: 23.1959 (mfDCA)
- 166: 22.8794 (mfDCA)
- 166: 22.8794 (mfDCA)
- 5: 20.0005 (cMI)
- 201: 18.6094 (mfDCA)
- 10: 17.4958 (cMI)
- 14: 17.3247 (cMI)
- 249: 14.8015 (mfDCA)
- 12: 13.6194 (cMI)
MT-ND1 · c.3A>T (p.Met1Ile)
protein-coding
MT-ND1 · protein-coding
protein
tRNA
rRNA
D-loop
highlighted: residue
1 of MT-ND1 · drag to rotate, scroll to zoom.
| Variant ID |
MITHRIL.9927
|
| MitImpact ID |
MI.10760
|
| Chromosome |
chrM
|
| Position |
3309
|
| Alleles (Ref/Alt) |
A/T
|
| Molecule type |
protein-coding
|
| Gene |
MT-ND1
|
| Gene description |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
|
| Gene (start-end) |
3307-4262
|
| Position within gene |
3
|
| Strand |
+
|
| HGVS |
NC_012920.1:m.3309A>T
|
| Functional effect |
Initiator codon variant
|
| Functional effect (detailed) |
Initiator codon variant;WARNING
|
| Respiratory chain complex |
I
|
| PhyloP (100V) |
3.182
|
| PhastCons (100V) |
1
|
| PhyloP (470-way) |
-0.331
|
| PhastCons (470-way) |
0.057
|
| Codon substitution |
ATA/ATT
|
| Reference AA |
M
|
| Alternate AA |
I
|
| AA position |
1
|
| PolyPhen-2 |
Probably damaging
|
| SIFT |
Deleterious
|
| SIFT4G |
Deleterious
|
| PROVEAN |
Neutral
|
| MutationTaster |
Disease causing
|
| EFIN (SwissProt) |
Deleterious
|
| EFIN (HumDiv) |
Deleterious
|
| LIST-S2 |
Deleterious
|
| ESM1b |
Neutral
|
| SNPDryad |
Neutral
|
| Mitoclass1 |
Neutral
|
| CADD |
Neutral
|
| VEST |
Neutral
|
| MLC |
Deleterious
|
| APOGEE1 |
Deleterious
|
| APOGEE2 |
VUS-
|
| CAROL |
Deleterious
|
| Condel |
Neutral
|
| COVEC WMV |
Deleterious
|
| MToolBox |
Deleterious
|
| DEOGEN2 |
Neutral
|
| MITOMAP known variant |
True
|
| MITOMAP GenBank freq (seqs) |
0 (0)
|
| HelixMTdb hom AF (AC) |
0 (2)
|
| HelixMTdb het AF (AC) |
0 (0)
|
| ΔΔG intra |
MT-ND1:M1I:I166S:1.64091:0.696801:0.970766;MT-ND1:M1I:I166M:0.197699:0.696801:-0.594445;MT-ND1:M1I:I166F:2.75691:0.696801:1.16217;MT-ND1:M1I:I166L:0.331566:0.696801:-0.420996;MT-ND1:M1I:I166N:2.37462:0.696801:1.63769;MT-ND1:M1I:I166T:1.3133:0.696801:0.604375;MT-ND1:M1I:I166V:1.32601:0.696801:0.715933;MT-ND1:M1I:A201D:5.44404:0.696801:4.42968;MT-ND1:M1I:A201V:3.28086:0.696801:2.44106;MT-ND1:M1I:A201T:3.8683:0.696801:3.20878;MT-ND1:M1I:A201P:0.214743:0.696801:-0.598678;MT-ND1:M1I:A201G:1.46834:0.696801:0.725;MT-ND1:M1I:A201S:0.994439:0.696801:0.373424;MT-ND1:M1I:A249G:0.940721:0.696801:0.24999;MT-ND1:M1I:A249T:1.26725:0.696801:0.585672;MT-ND1:M1I:A249E:0.776841:0.696801:-0.081467;MT-ND1:M1I:A249V:1.12623:0.696801:0.387706;MT-ND1:M1I:A249P:-0.226368:0.696801:-0.969457;MT-ND1:M1I:A249S:1.16372:0.696801:0.416877;MT-ND1:M1I:P2S:0.664649:0.696801:0.119094;MT-ND1:M1I:P2H:1.3433:0.696801:0.926272;MT-ND1:M1I:P2L:0.510437:0.696801:0.109703;MT-ND1:M1I:P2A:0.945025:0.696801:0.449523;MT-ND1:M1I:P2R:1.28624:0.696801:0.63914;MT-ND1:M1I:P2T:0.706936:0.696801:0.178692;MT-ND1:M1I:M3I:0.912034:0.696801:0.24161;MT-ND1:M1I:M3K:1.29665:0.696801:0.647219;MT-ND1:M1I:M3L:0.83847:0.696801:0.320405;MT-ND1:M1I:M3T:1.8104:0.696801:1.3373;MT-ND1:M1I:M3V:1.4542:0.696801:0.898191
|
| ΔΔG intra-interface |
MT-ND1:NDUFA1:5lc5:H:a:M1I:A249E:1.03311:1.05275:0.01115;MT-ND1:NDUFA1:5lc5:H:a:M1I:A249G:0.95399:1.05275:-0.0572;MT-ND1:NDUFA1:5lc5:H:a:M1I:A249P:0.98433:1.05275:-0.00503;MT-ND1:NDUFA1:5lc5:H:a:M1I:A249S:0.93231:1.05275:-0.08213;MT-ND1:NDUFA1:5lc5:H:a:M1I:A249T:1.07445:1.05275:0.19588;MT-ND1:NDUFA1:5lc5:H:a:M1I:A249V:1.29754:1.05275:0.16957;MT-ND1:NDUFA1:5ldw:H:a:M1I:A249E:0.31294:0.03068:0.02682;MT-ND1:NDUFA1:5ldw:H:a:M1I:A249G:0.84165:0.03068:0.38432;MT-ND1:NDUFA1:5ldw:H:a:M1I:A249P:0.65404:0.03068:-0.0544;MT-ND1:NDUFA1:5ldw:H:a:M1I:A249S:-0.46109:0.03068:-0.69158;MT-ND1:NDUFA1:5ldw:H:a:M1I:A249T:0.54385:0.03068:0.24228;MT-ND1:NDUFA1:5ldw:H:a:M1I:A249V:0.46123:0.03068:0.18985
|
Same protein (MT-ND1); edge ∝ covariation score.
Show all 18 as text
- 4: 32.9132 (mfDCA)
- 175: 30.1899 (mfDCA)
- 2: 29.9569 (mfDCA)
- 239: 27.6626 (mfDCA)
- 239: 27.6626 (mfDCA)
- 263: 27.31 (mfDCA)
- 9: 26.4013 (cMI)
- 300: 23.2395 (mfDCA)
- 3: 23.1959 (mfDCA)
- 3: 23.1959 (mfDCA)
- 166: 22.8794 (mfDCA)
- 166: 22.8794 (mfDCA)
- 5: 20.0005 (cMI)
- 201: 18.6094 (mfDCA)
- 10: 17.4958 (cMI)
- 14: 17.3247 (cMI)
- 249: 14.8015 (mfDCA)
- 12: 13.6194 (cMI)
MT-ND1 · c.2T>C (p.Met1Thr)
protein-coding
MT-ND1 · protein-coding
protein
tRNA
rRNA
D-loop
highlighted: residue
1 of MT-ND1 · drag to rotate, scroll to zoom.
| Variant ID |
MITHRIL.9923
|
| MitImpact ID |
MI.10758
|
| Chromosome |
chrM
|
| Position |
3308
|
| Alleles (Ref/Alt) |
T/C
|
| Molecule type |
protein-coding
|
| Gene |
MT-ND1
|
| Gene description |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
|
| Gene (start-end) |
3307-4262
|
| Position within gene |
2
|
| Strand |
+
|
| HGVS |
NC_012920.1:m.3308T>C
|
| Functional effect |
Start lost
|
| Respiratory chain complex |
I
|
| PhyloP (100V) |
4.722
|
| PhastCons (100V) |
1
|
| PhyloP (470-way) |
0.458
|
| PhastCons (470-way) |
0.156
|
| Codon substitution |
ATA/ACA
|
| Reference AA |
M
|
| Alternate AA |
T
|
| AA position |
1
|
| PolyPhen-2 |
Probably damaging
|
| SIFT |
Deleterious
|
| SIFT4G |
Deleterious
|
| PROVEAN |
Neutral
|
| MutationTaster |
Polymorphism
|
| EFIN (SwissProt) |
Deleterious
|
| EFIN (HumDiv) |
Deleterious
|
| LIST-S2 |
Deleterious
|
| ESM1b |
Neutral
|
| SNPDryad |
Neutral
|
| Mitoclass1 |
Neutral
|
| CADD |
Neutral
|
| VEST |
Neutral
|
| MLC |
Deleterious
|
| APOGEE1 |
Deleterious
|
| APOGEE2 |
VUS-
|
| CAROL |
Deleterious
|
| Condel |
Neutral
|
| COVEC WMV |
Deleterious
|
| MToolBox |
Deleterious
|
| DEOGEN2 |
Neutral
|
| MITOMAP status |
Reported---possibly-synergistic|-hg-L1b-and-A2i-marker
|
| MITOMAP clinical info |
MELAS-/-DEAF-enhancer-/-hypertension-/-LVNC-/-putative-LHON
|
| MITOMAP disease (hom/het) |
-/+
|
| MITOMAP disease GenBank freq |
0.7455
|
| MITOMAP disease GenBank seqs |
410 (0)
|
| ClinVar significance |
Benign/Likely benign
|
| ClinVar disease |
- not specified
- Leigh syndrome
- SUDDEN INFANT DEATH SYNDROME
+1 more
|
| ClinVar ID (allele ID) |
9728 (24767)
|
| ClinVar disease DB |
+1 more
|
| ClinVar submitter IDs |
|
| MITOMAP known variant |
True
|
| MITOMAP GenBank freq (seqs) |
0.7455 (498)
|
| HelixMTdb hom AF (AC) |
0.0057 (1126)
|
| HelixMTdb het AF (AC) |
0.0001 (26)
|
| HelixMTdb mean (max) ARF |
0.5015 (0.9464)
|
| gnomAD hom AF (AC) |
0.0285 (1609)
|
| gnomAD het AF (AC) |
0.0001 (5)
|
| gnomAD AN |
56409
|
| gnomAD filter |
PASS
|
| ToMMo 61KJPN AF (AC) |
0.0006 (36)
|
| ToMMo 61KJPN AN |
61424
|
| ΔΔG intra |
MT-ND1:M1T:I166M:0.187932:0.694942:-0.594445;MT-ND1:M1T:I166V:1.32052:0.694942:0.715933;MT-ND1:M1T:I166N:2.41197:0.694942:1.63769;MT-ND1:M1T:I166L:0.258827:0.694942:-0.420996;MT-ND1:M1T:I166S:1.69698:0.694942:0.970766;MT-ND1:M1T:I166F:2.94585:0.694942:1.16217;MT-ND1:M1T:A201T:3.85398:0.694942:3.20878;MT-ND1:M1T:A201P:0.18953:0.694942:-0.598678;MT-ND1:M1T:A201D:5.17909:0.694942:4.42968;MT-ND1:M1T:A201V:2.8054:0.694942:2.44106;MT-ND1:M1T:A201S:1.10206:0.694942:0.373424;MT-ND1:M1T:A249G:0.98068:0.694942:0.24999;MT-ND1:M1T:A249T:1.26798:0.694942:0.585672;MT-ND1:M1T:A249P:-0.208264:0.694942:-0.969457;MT-ND1:M1T:A249V:1.08682:0.694942:0.387706;MT-ND1:M1T:A249E:0.873783:0.694942:-0.081467;MT-ND1:M1T:P2S:0.753602:0.694942:0.119094;MT-ND1:M1T:P2H:1.52221:0.694942:0.926272;MT-ND1:M1T:P2L:0.762225:0.694942:0.109703;MT-ND1:M1T:P2T:0.776941:0.694942:0.178692;MT-ND1:M1T:P2A:1.08902:0.694942:0.449523;MT-ND1:M1T:M3L:1.08406:0.694942:0.320405;MT-ND1:M1T:M3V:1.35668:0.694942:0.898191;MT-ND1:M1T:M3T:1.84671:0.694942:1.3373;MT-ND1:M1T:M3K:1.31349:0.694942:0.647219;MT-ND1:M1T:M3I:0.853114:0.694942:0.24161;MT-ND1:M1T:A201G:1.47336:0.694942:0.725;MT-ND1:M1T:I166T:1.3438:0.694942:0.604375;MT-ND1:M1T:A249S:1.10331:0.694942:0.416877;MT-ND1:M1T:P2R:1.29039:0.694942:0.63914
|
| ΔΔG intra-interface |
MT-ND1:NDUFA1:5lc5:H:a:M1T:A249E:1.65741:1.65165:0.01115;MT-ND1:NDUFA1:5lc5:H:a:M1T:A249G:1.57875:1.65165:-0.0572;MT-ND1:NDUFA1:5lc5:H:a:M1T:A249P:1.68909:1.65165:-0.00503;MT-ND1:NDUFA1:5lc5:H:a:M1T:A249S:1.53585:1.65165:-0.08213;MT-ND1:NDUFA1:5lc5:H:a:M1T:A249T:1.84086:1.65165:0.19588;MT-ND1:NDUFA1:5lc5:H:a:M1T:A249V:1.83738:1.65165:0.16957;MT-ND1:NDUFA1:5ldw:H:a:M1T:A249E:0.94848:0.89206:0.02682;MT-ND1:NDUFA1:5ldw:H:a:M1T:A249G:1.44197:0.89206:0.38432;MT-ND1:NDUFA1:5ldw:H:a:M1T:A249P:0.96906:0.89206:-0.0544;MT-ND1:NDUFA1:5ldw:H:a:M1T:A249S:0.46892:0.89206:-0.69158;MT-ND1:NDUFA1:5ldw:H:a:M1T:A249T:1.11346:0.89206:0.24228;MT-ND1:NDUFA1:5ldw:H:a:M1T:A249V:1.04144:0.89206:0.18985
|
Same protein (MT-ND1); edge ∝ covariation score.
Show all 18 as text
- 4: 32.9132 (mfDCA)
- 175: 30.1899 (mfDCA)
- 2: 29.9569 (mfDCA)
- 239: 27.6626 (mfDCA)
- 239: 27.6626 (mfDCA)
- 263: 27.31 (mfDCA)
- 9: 26.4013 (cMI)
- 300: 23.2395 (mfDCA)
- 3: 23.1959 (mfDCA)
- 3: 23.1959 (mfDCA)
- 166: 22.8794 (mfDCA)
- 166: 22.8794 (mfDCA)
- 5: 20.0005 (cMI)
- 201: 18.6094 (mfDCA)
- 10: 17.4958 (cMI)
- 14: 17.3247 (cMI)
- 249: 14.8015 (mfDCA)
- 12: 13.6194 (cMI)