PDB ID 4DJC     CHAIN A
Protein name Calmodulin
Uniprot Accession P62158
The number of similar proteins 305
The number of binding states 51
The number of binding partners 42

Molecule viewer


Only interaction residues
#binding
partners
  >9
  8
  7
  6
  5
  4
  3
  2
  1
  0

Sequence information

1   SNAMADQLTE   EQIAEFKEAF   SLFDKDGDGT   ITTKELGTVM   RSLGQNPTEA   50
51   ELQDMINEVD   ADGNGTIDFP   EFLTMMARKM   KDTDSEEEIR   EAFRVFDKDG   100
101   NGYISAAELR   HVMTNLGEKL   TDEEVDEMIR   EADIDGDGQV   NYEEFVQMMT   150
151   AK           200

Variants

Residue AA Source /
dbSNP
Clinical
Significance
Allele
Frequency
(> 0.0001)
AlphaMissense
pathogenicity
Disease name
24_GLY GLU 8.3kJPN
chr10:5567119
-
- 0.0001 - -
30_THR PRO ClinVar
chr14:90867656
rs1057521851
Likely pathogenic - - not provided [MedGen:CN517202]
30_THR SER 8.3kJPN
chr10:5567136
-
- 0.0001 - -
32_GLU GLN gnomAD
chr10:5567142
rs2231420
- 0.00532811 - -
32_GLU GLN 8.3kJPN
chr10:5567142
rs2231420
- 0.0341 - -
52_MET VAL 8.3kJPN
chr10:5567202
-
- 0.0001 - -
54_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]
62_GLY SER gnomAD
chr10:5567232
rs550418190
- 0.000502304 - -
67_PRO SER gnomAD
chr10:5567247
rs75808734
- 0.000394542 - -
90_PHE LEU ClinVar
chr14:90870295
rs730882253
Likely pathogenic - - Long QT syndrome 14 [MONDO:MONDO:0014548,MedGen:C4015671,OMIM:616247,Orphanet:101016,Orphanet:768]
90_PHE LEU ClinVar
chr2:47389442
rs2465708816
Likely pathogenic - - Long QT syndrome 1 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768]
90_PHE LEU ClinVar
chr14:90870297
-
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]
91_ARG HIS 8.3kJPN
chr10:5567320
rs776439000
- 0.0019 - -
94_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]
96_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]
96_ASP HIS ClinVar
chr19:47112103
rs1060502607
Pathogenic - - Long QT syndrome 1|Long QT syndrome 16 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768|MONDO:MONDO:0032915,MedGen:C5394068,OMIM:618782]
96_ASP TYR ClinVar
chr2:47388997
rs1573214371
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]
96_ASP TYR ClinVar
chr14:90870723
rs2503459594
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]
97_GLY SER 8.3kJPN
chr10:5567337
rs190000968
- 0.0002 - -
98_ASN SER ClinVar
chr14:90870730
rs267607277
Pathogenic/Likely pathogenic - - Catecholaminergic polymorphic ventricular tachycardia 4|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 4 [MONDO:MONDO:0013966,MedGen:C3554047,OMIM:614916,Orphanet:3286|MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286|MONDO:MONDO:0013966,MedGen:C3554047,OMIM:614916,Orphanet:3286]; Long QT syndrome 14|Catecholaminergic polymorphic ventricular tachycardia|Cardiovascular phenotype|CALM1-related disorder [MONDO:MONDO:0014548,MedGen:C4015671,OMIM:616247,Orphanet:101016,Orphanet:768|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286|MedGen:CN230736|]
98_ASN SER ClinVar
chr2:47388990
rs398124647
Pathogenic - - Long QT syndrome 1|Long QT syndrome 15|Long QT syndrome|Cardiovascular phenotype [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|MedGen:CN230736]
98_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]
105_GLU LYS ClinVar
chr14:90870750
rs1057523130
Likely pathogenic - - not provided [MedGen:CN517202]
105_GLU GLN ClinVar
chr2:47388970
rs2465707237
Likely pathogenic - - Long QT syndrome 15 [MONDO:MONDO:0014550,MedGen:C4015695,OMIM:616249,Orphanet:101016,Orphanet:768]
114_GLY ARG ClinVar
chr2:47388943
rs2103823712
Pathogenic - - SUDDEN INFANT DEATH SYNDROME [EFO: The Experimental Factor Ontology:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120]
121_GLU LYS 8.3kJPN
chr10:5567409
-
- 0.0001 - -
127_ARG TRP gnomAD
chr10:5567427
rs754327442
- 0.000119868 - -
129_ALA VAL 8.3kJPN
chr10:5567434
rs752809700
- 0.0002 - -
130_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]
130_ASP GLY ClinVar
chr19:47112206
rs1599759554
Pathogenic - - Long QT syndrome 16 [MONDO:MONDO:0032915,MedGen:C5394068,OMIM:618782]
130_ASP GLY ClinVar
chr2:47388894
rs1573214163
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]
130_ASP ASN ClinVar
chr2:47388895
rs2103823638
Pathogenic - - Long QT syndrome 1 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768]
130_ASP GLU ClinVar
chr19:47112207
rs35617141
Pathogenic - - Long QT syndrome 1 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768]
130_ASP VAL ClinVar
chr14:90870826
-
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]
130_ASP ASN 8.3kJPN
chr10:5567436
rs777995357
- 0.0002 - -
130_ASP GLU 8.3kJPN
chr10:5567438
rs751753306
- 0.0002 - -
131_THR ARG 8.3kJPN
chr10:5567440
-
- 0.0001 - -
132_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]
132_ASP GLY ClinVar
chr19:47112212
rs1057523474
Likely pathogenic - - not provided [MedGen:CN517202]
132_ASP ASN ClinVar
chr14:90870831
rs1595102640
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_ASP VAL ClinVar
chr14:90870832
rs1887113791
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]
132_ASP GLY ClinVar
chr2:47388888
rs1687164164
Pathogenic - - Long QT syndrome 1 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768]
132_ASP GLY ClinVar
chr14:90870832
rs1887113791
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]
132_ASP TYR ClinVar
chr2:47388889
rs2103823612
Pathogenic - - Long QT syndrome 1 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768]
133_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]
133_GLY SER ClinVar
chr2:47388886
rs2103823599
Likely pathogenic - - Long QT syndrome 1 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768]
133_GLY VAL ClinVar
chr14:90870835
-
Likely pathogenic - - Long QT syndrome [MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976]
134_ASP HIS ClinVar
chr2:47388883
rs398124650
Pathogenic/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]
134_ASP ASN ClinVar
chr2:47388883
rs398124650
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]
136_GLN PRO ClinVar
chr2:47388876
rs398124649
Pathogenic/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]
138_ASN LYS ClinVar
chr2:47388869
rs1553431702
Pathogenic - - Long QT syndrome 15 [MONDO:MONDO:0014550,MedGen:C4015695,OMIM:616249,Orphanet:101016,Orphanet:768]
140_GLU VAL ClinVar
chr14:90870856
rs1064793078
Likely pathogenic - - not provided [MedGen:CN517202]
141_GLU GLY ClinVar
chr19:47112382
rs1555814427
Likely pathogenic - - Long QT syndrome 1 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768]
141_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]
141_GLU GLY ClinVar
chr14:90871033
rs1887120112
Pathogenic - - Long QT syndrome 14 [MONDO:MONDO:0014548,MedGen:C4015671,OMIM:616247,Orphanet:101016,Orphanet:768]
141_GLU VAL ClinVar
chr14:90871033
rs1887120112
Pathogenic - - Long QT syndrome 14 [MONDO:MONDO:0014548,MedGen:C4015671,OMIM:616247,Orphanet:101016,Orphanet:768]
141_GLU ASP ClinVar
chr2:47387942
rs2103821507
Likely pathogenic - - Long QT syndrome 1 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768]
142_PHE LEU ClinVar
chr14:90871037
rs199744595
Pathogenic - - Long QT syndrome 14 [MONDO:MONDO:0014548,MedGen:C4015671,OMIM:616247,Orphanet:101016,Orphanet:768]
142_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|Cardiovascular phenotype [MONDO:MONDO:0013966,MedGen:C3554047,OMIM:614916,Orphanet:3286|MedGen:CN230736]
142_PHE LEU ClinVar
chr14:90871037
rs199744595
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]
142_PHE LEU ClinVar
chr19:47112386
rs2513646355
Pathogenic - - Long QT syndrome 1 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768]
145_MET ARG ClinVar
chr2:47387931
rs1558693760
Likely pathogenic - - Long QT syndrome 1 [MONDO:MONDO:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768]
145_VAL MET gnomAD
chr10:5567481
rs530831313
- 0.000136752 - -
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.