| PDB ID | 2N6A
|
CHAIN | A |
|---|---|---|---|
| Protein name | human calmodulin/connexin-36 peptide hybrid | ||
| Uniprot Accession | P62158 | ||
| The number of similar proteins | 282 | ||
| The number of binding states | 45 | ||
| The number of binding partners | 36 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 2N6A (CHAIN: A) | |
| 1 | Monomeric state |
| 2 |
P62204
|
| 3 |
Q14524
|
| 4 |
P19634
|
| 5 |
Q9H2S1
|
| 6 |
2WEL
|
| 7 |
P40136
|
| 8 |
Q13933
|
| 9 |
P11716
|
| 10 |
Q13813
|
| 11 |
Q62768
|
| 12 |
Q59H93
|
| 13 |
P78352
|
| 14 |
Q7ZJG2
|
| 15 |
Q9H095
|
| 16 |
P34947
|
| 17 |
O00418
|
| 18 |
P35228
|
| 19 |
Q13936
|
| 20 |
O35433
|
| 21 |
O00159
|
| 22 |
Q99250
|
| 23 |
O43525
|
| 24 |
Q5ZTK6
|
| 25 |
Q92736
|
| 26 |
R4X5L7
|
| 27 |
P56696
|
| 28 |
P97479
|
| 29 |
Q9NQA5
|
| 30 |
Q9LF79
|
| 31 |
P62158
Q13936
|
| 32 |
Q13936
Q13936
|
| 33 |
P62155
Q9WTI7
|
| 34 |
P19634
P19634
|
| 35 |
2BKI
Q29122
|
| 36 |
Q14524
Q92913
|
| 37 |
P51787
P51787
|
| 38 |
Q96PH1
Q96PH1
|
| 39 |
P62204
Q99104
|
| 40 |
Q6DN90
Q6DN90
|
| 41 |
P62152
Q29122
|
| 42 |
P62203
P62203
|
| 43 |
P62158
Q13936
Q13936
|
| 44 |
P62155
P62155
Q9WTI7
|
| 45 |
P62161
P70604
P70604
|
Downdload
Molecule viewer
|
Only interaction residues |
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Sequence information
|
Variants
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 23_GLY | GLU |
8.3kJPN chr10:5567119 - |
- | 0.0001 | - | - | |
| 29_THR | PRO |
ClinVar chr14:90867656 rs1057521851 |
Likely pathogenic | - | - | not provided [MedGen:CN517202] | |
| 29_THR | SER |
8.3kJPN chr10:5567136 - |
- | 0.0001 | - | - | |
| 31_GLU | GLN |
gnomAD chr10:5567142 rs2231420 |
- | 0.00532811 | - | - | |
| 31_GLU | GLN |
8.3kJPN chr10:5567142 rs2231420 |
- | 0.0341 | - | - | |
| 51_MET | VAL |
8.3kJPN chr10:5567202 - |
- | 0.0001 | - | - | |
| 53_ASN | ILE |
ClinVar chr14:90867729 rs267607276 |
Likely pathogenic | - | - | Catecholaminergic polymorphic ventricular tachycardia 4|Catecholaminergic polymorphic ventricular tachycardia 1 [MONDO:MONDO:0013966,MedGen:C3554047,OMIM:614916,Orphanet:3286|MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286] | |
| 61_GLY | SER |
gnomAD chr10:5567232 rs550418190 |
- | 0.000502304 | - | - | |
| 66_PRO | SER |
gnomAD chr10:5567247 rs75808734 |
- | 0.000394542 | - | - | |
| 89_PHE | LEU |
ClinVar chr14:90870295 rs730882253 |
Likely pathogenic | - | - | Long QT syndrome 14 [MONDO:MONDO:0014548,MedGen:C4015671,OMIM:616247,Orphanet:101016,Orphanet:768] | |
| 89_PHE | LEU |
ClinVar chr2:47389442 - |
Likely pathogenic | - | - | Long QT syndrome 1 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768] | |
| 90_ARG | HIS |
8.3kJPN chr10:5567320 rs776439000 |
- | 0.0019 | - | - | |
| 93_ASP | ALA |
ClinVar chr19:47111841 rs1060502608 |
Pathogenic | - | - | Long QT syndrome 1|not provided [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768|MedGen:C3661900] | |
| 95_ASP | VAL |
ClinVar chr2:47388996 rs730882254 |
Pathogenic | - | - | Long QT syndrome 15|not provided|Long QT syndrome 1 [MONDO:MONDO:0014550,MedGen:C4015695,OMIM:616249,Orphanet:101016,Orphanet:768|MedGen:C3661900|MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768] | |
| 95_ASP | HIS |
ClinVar chr19:47112103 rs1060502607 |
Pathogenic | - | - | Long QT syndrome 1 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768] | |
| 95_ASP | TYR |
ClinVar chr2:47388997 rs1573214371 |
Pathogenic | - | - | Long QT syndrome 1 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768] | |
| 95_ASP | TYR |
ClinVar chr14:90870723 - |
Pathogenic | - | - | Long QT syndrome 14 [MONDO:MONDO:0014548,MedGen:C4015671,OMIM:616247,Orphanet:101016,Orphanet:768]; Catecholaminergic polymorphic ventricular tachycardia 4 [MONDO:MONDO:0013966,MedGen:C3554047,OMIM:614916,Orphanet:3286] | |
| 96_GLY | SER |
8.3kJPN chr10:5567337 rs190000968 |
- | 0.0002 | - | - | |
| 97_ASN | SER |
ClinVar chr14:90870730 rs267607277 |
Pathogenic/Likely pathogenic | - | - | Catecholaminergic polymorphic ventricular tachycardia 4|Catecholaminergic polymorphic ventricular tachycardia 1|Long QT syndrome 14 [MONDO:MONDO:0013966,MedGen:C3554047,OMIM:614916,Orphanet:3286|MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286|MONDO:MONDO:0014548,MedGen:C4015671,OMIM:616247,Orphanet:101016,Orphanet:768]; Catecholaminergic polymorphic ventricular tachycardia 4|Catecholaminergic polymorphic ventricular tachycardia|Cardiovascular phenotype [MONDO:MONDO:0013966,MedGen:C3554047,OMIM:614916,Orphanet:3286|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286|MedGen:CN230736] | |
| 97_ASN | SER |
ClinVar chr2:47388990 rs398124647 |
Pathogenic | - | - | Long QT syndrome 1|Long QT syndrome 15|Long QT syndrome [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768|MONDO:MONDO:0014550,MedGen:C4015695,OMIM:616249,Orphanet:101016,Orphanet:768|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976] | |
| 97_ASN | ILE |
ClinVar chr2:47388990 rs398124647 |
Pathogenic | - | - | Long QT syndrome 1|Long QT syndrome 15 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768|MONDO:MONDO:0014550,MedGen:C4015695,OMIM:616249,Orphanet:101016,Orphanet:768] | |
| 104_GLU | LYS |
ClinVar chr14:90870750 rs1057523130 |
Likely pathogenic | - | - | not provided [MedGen:CN517202] | |
| 104_GLU | GLN |
ClinVar chr2:47388970 - |
Likely pathogenic | - | - | Long QT syndrome 15 [MONDO:MONDO:0014550,MedGen:C4015695,OMIM:616249,Orphanet:101016,Orphanet:768] | |
| 113_GLY | ARG |
ClinVar chr2:47388943 rs2103823712 |
Pathogenic | - | - | SUDDEN INFANT DEATH SYNDROME [EFO:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120] | |
| 120_GLU | LYS |
8.3kJPN chr10:5567409 - |
- | 0.0001 | - | - | |
| 126_ARG | TRP |
gnomAD chr10:5567427 rs754327442 |
- | 0.000119868 | - | - | |
| 128_ALA | VAL |
8.3kJPN chr10:5567434 rs752809700 |
- | 0.0002 | - | - | |
| 129_ASP | GLY |
ClinVar chr14:90870826 rs730882252 |
Pathogenic/Likely pathogenic | - | - | Long QT syndrome 14|not provided [MONDO:MONDO:0014548,MedGen:C4015671,OMIM:616247,Orphanet:101016,Orphanet:768|MedGen:C3661900] | |
| 129_ASP | GLY |
ClinVar chr19:47112206 rs1599759554 |
Pathogenic | - | - | Long QT syndrome 16 [MONDO:MONDO:0032915,MedGen:C5394068,OMIM:618782] | |
| 129_ASP | GLY |
ClinVar chr2:47388894 rs1573214163 |
Likely pathogenic | - | - | Long QT syndrome 15|Long QT syndrome 1 [MONDO:MONDO:0014550,MedGen:C4015695,OMIM:616249,Orphanet:101016,Orphanet:768|MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768] | |
| 129_ASP | ASN |
ClinVar chr2:47388895 rs2103823638 |
Pathogenic | - | - | Long QT syndrome 1 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768] | |
| 129_ASP | GLU |
ClinVar chr19:47112207 rs35617141 |
Pathogenic | - | - | Long QT syndrome 1 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768] | |
| 129_ASP | ASN |
8.3kJPN chr10:5567436 rs777995357 |
- | 0.0002 | - | - | |
| 129_ASP | GLU |
8.3kJPN chr10:5567438 rs751753306 |
- | 0.0002 | - | - | |
| 130_THR | ARG |
8.3kJPN chr10:5567440 - |
- | 0.0001 | - | - | |
| 131_ASP | GLU |
ClinVar chr2:47388887 rs398124648 |
Pathogenic | - | - | Long QT syndrome 15|Long QT syndrome 1 [MONDO:MONDO:0014550,MedGen:C4015695,OMIM:616249,Orphanet:101016,Orphanet:768|MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768] | |
| 131_ASP | GLY |
ClinVar chr19:47112212 rs1057523474 |
Likely pathogenic | - | - | not provided [MedGen:CN517202] | |
| 131_ASP | GLU |
ClinVar chr19:47112213 rs1064796271 |
Pathogenic | - | - | not provided [MedGen:CN517202] | |
| 131_ASP | ASN |
ClinVar chr14:90870831 rs1595102640 |
Pathogenic | - | - | Long QT syndrome 14 [MONDO:MONDO:0014548,MedGen:C4015671,OMIM:616247,Orphanet:101016,Orphanet:768]; Catecholaminergic polymorphic ventricular tachycardia 4 [MONDO:MONDO:0013966,MedGen:C3554047,OMIM:614916,Orphanet:3286] | |
| 131_ASP | VAL |
ClinVar chr14:90870832 rs1887113791 |
Pathogenic | - | - | Catecholaminergic polymorphic ventricular tachycardia 4 [MONDO:MONDO:0013966,MedGen:C3554047,OMIM:614916,Orphanet:3286]; Long QT syndrome 14 [MONDO:MONDO:0014548,MedGen:C4015671,OMIM:616247,Orphanet:101016,Orphanet:768] | |
| 131_ASP | GLY |
ClinVar chr2:47388888 rs1687164164 |
Pathogenic | - | - | Long QT syndrome 1 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768] | |
| 131_ASP | GLY |
ClinVar chr14:90870832 rs1887113791 |
Pathogenic | - | - | Catecholaminergic polymorphic ventricular tachycardia 4 [MONDO:MONDO:0013966,MedGen:C3554047,OMIM:614916,Orphanet:3286]; Long QT syndrome 14 [MONDO:MONDO:0014548,MedGen:C4015671,OMIM:616247,Orphanet:101016,Orphanet:768] | |
| 131_ASP | TYR |
ClinVar chr2:47388889 rs2103823612 |
Pathogenic | - | - | Long QT syndrome 1 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768] | |
| 132_GLY | GLU |
ClinVar chr14:90870835 rs1555366045 |
Likely pathogenic | - | - | Catecholaminergic polymorphic ventricular tachycardia 4 [MONDO:MONDO:0013966,MedGen:C3554047,OMIM:614916,Orphanet:3286]; Long QT syndrome 14 [MONDO:MONDO:0014548,MedGen:C4015671,OMIM:616247,Orphanet:101016,Orphanet:768] | |
| 132_GLY | SER |
ClinVar chr2:47388886 rs2103823599 |
Likely pathogenic | - | - | Long QT syndrome 1 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768] | |
| 133_ASP | HIS |
ClinVar chr2:47388883 rs398124650 |
Pathogenic/Likely pathogenic | - | - | Long QT syndrome 1|Long QT syndrome 15 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768|MONDO:MONDO:0014550,MedGen:C4015695,OMIM:616249,Orphanet:101016,Orphanet:768] | |
| 135_GLN | PRO |
ClinVar chr2:47388876 rs398124649 |
Pathogenic/Likely pathogenic | - | - | Long QT syndrome 1|Long QT syndrome 15 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768|MONDO:MONDO:0014550,MedGen:C4015695,OMIM:616249,Orphanet:101016,Orphanet:768] | |
| 137_ASN | LYS |
ClinVar chr2:47388869 rs1553431702 |
Pathogenic | - | - | Long QT syndrome 15 [MONDO:MONDO:0014550,MedGen:C4015695,OMIM:616249,Orphanet:101016,Orphanet:768] | |
| 139_GLU | VAL |
ClinVar chr14:90870856 rs1064793078 |
Likely pathogenic | - | - | not provided [MedGen:CN517202] | |
| 140_GLU | GLY |
ClinVar chr19:47112382 rs1555814427 |
Likely pathogenic | - | - | Long QT syndrome 1 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768] | |
| 140_GLU | LYS |
ClinVar chr19:47112238 rs1599759598 |
Pathogenic | - | - | Long QT syndrome 16|Long QT syndrome 1 [MONDO:MONDO:0032915,MedGen:C5394068,OMIM:618782|MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768] | |
| 140_GLU | GLY |
ClinVar chr14:90871033 rs1887120112 |
Pathogenic | - | - | Long QT syndrome 14 [MONDO:MONDO:0014548,MedGen:C4015671,OMIM:616247,Orphanet:101016,Orphanet:768] | |
| 140_GLU | VAL |
ClinVar chr14:90871033 rs1887120112 |
Pathogenic | - | - | Long QT syndrome 14 [MONDO:MONDO:0014548,MedGen:C4015671,OMIM:616247,Orphanet:101016,Orphanet:768] | |
| 140_GLU | ASP |
ClinVar chr2:47387942 rs2103821507 |
Likely pathogenic | - | - | Long QT syndrome 1 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768] | |
| 141_PHE | LEU |
ClinVar chr14:90871037 rs199744595 |
Pathogenic | - | - | Long QT syndrome 14 [MONDO:MONDO:0014548,MedGen:C4015671,OMIM:616247,Orphanet:101016,Orphanet:768] | |
| 141_PHE | LEU |
ClinVar chr14:90871035 rs1085307479 |
Pathogenic | - | - | not provided|Long QT syndrome 14 [MedGen:C3661900|MONDO:MONDO:0014548,MedGen:C4015671,OMIM:616247,Orphanet:101016,Orphanet:768]; Catecholaminergic polymorphic ventricular tachycardia 4 [MONDO:MONDO:0013966,MedGen:C3554047,OMIM:614916,Orphanet:3286] | |
| 141_PHE | LEU |
ClinVar chr14:90871037 rs199744595 |
Pathogenic | - | - | Long QT syndrome 14 [MONDO:MONDO:0014548,MedGen:C4015671,OMIM:616247,Orphanet:101016,Orphanet:768]; Catecholaminergic polymorphic ventricular tachycardia 4 [MONDO:MONDO:0013966,MedGen:C3554047,OMIM:614916,Orphanet:3286] | |
| 144_MET | ARG |
ClinVar chr2:47387931 rs1558693760 |
Likely pathogenic | - | - | Long QT syndrome 1 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768] | |
| 144_VAL | MET |
gnomAD chr10:5567481 rs530831313 |
- | 0.000136752 | - | - | |
| 157_ARG | HIS |
8.3kJPN chr15:35044812 rs376923298 |
- | 0.0001 | - | - | |
| 164_ARG | GLN |
gnomAD chr15:35044791 rs777460358 |
- | 0.00012724 | - | - |