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

Molecule viewer


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

Sequence information

1   HHHHHHTEEQ   IAEFKEAFSL   FDKDGDGTIT   TKELGTVMRS   LGQNPTEAEL   50
51   QDMINEVDAD   GNGTIDFPEF   LTMMARKMKD   TDSEEEIREA   FRVFDKDGNG   100
101   YISAAELRHV   MTNLGEKLTD   EEVDEMIREA   DIDGDGQVNY   EEFVQMMTGA   150
151   STAAGSGWRK   IKLAVRGAQA   KRK       200

Variants

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 -
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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.