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 |
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 |
Only interaction residues |
|
||||||||||||||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
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 | - |