PDB ID | 1CMF | CHAIN | A |
---|---|---|---|
Protein name | CALMODULIN (VERTEBRATE) | ||
Uniprot Accession | P62157 | ||
The number of similar proteins | 18 | ||
The number of binding states | 5 | ||
The number of binding partners | 4 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1CMF (CHAIN: A) | |
1 | Monomeric state |
2 | P15318 |
3 | P48539 |
4 | P19334 |
5 | Q99LM3 |
Only interaction residues |
|
||||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
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 | - |