PDB ID 1H4R     CHAIN A
Protein name MERLIN
PDB 1H4R
The number of similar proteins 12
The number of binding states 5
The number of binding partners 4

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
1H4R (CHAIN: A)
1 1H4R  
2 Monomeric state
3 P35240  
4 Q9NRM7  
5 Q9Y4B6  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  3
  2
  1
  0

Sequence information

1   GMAGAIASRM   SFSSLKRKQP   KTFTVRIVTM   DAEMEFNCEM   KWKGKDLFDL   50
51   VCRTLGLRET   WFFGLQYTIK   DTVAWLKMDK   KVLDHDVSKE   EPVTFHFLAK   100
101   FYPENAEEEL   VQEITQHLFF   LQVKKQILDE   KIYCPPEASV   LLASYAVQAK   150
151   YGDYDPSVHK   RGFLAQEELL   PKRVINLYQM   TPEMWEERIT   AWYAEHRGRA   200
201   RDEAEMEYLK   IAQDLEMYGV   NYFAIRNKKG   TELLLGVDAL   GLHIYDPENR   250
251   LTPKISFPWN   EIRNISYSDK   EFTIKPLDKK   IDVFKFNSSK   LRVNKLILQL   300
301   CIGNHDLFMR   RRKA         350

Variants

Residue AA Source /
dbSNP		 Clinical
Significance
 Allele
Frequency
(> 0.0001)		 AlphaMissense
pathogenicity		 Disease name
20_LYS TER ClinVar
chr22:30000045
rs2064715459
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
29_MET LEU 8.3kJPN
chr22:30000072
-
- 0.0001 - -
33_MET VAL 8.3kJPN
chr22:30000084
-
- 0.0001 - -
37_CYS TER ClinVar
chr22:30000098
-
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
38_GLU TER ClinVar
chr22:30000099
-
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
40_LYS TER ClinVar
chr22:30032743
-
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
41_TRP TER ClinVar
chr22:30032747
rs1555986860
Pathogenic - - not provided|Neurofibromatosis, type 2 [MedGen:C3661900|MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
57_ARG TER ClinVar
chr22:30032794
rs121434259
Pathogenic - - Meningioma|not provided|Neurofibromatosis, type 2|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0002858,Human Phenotype Ontology:HP:0006754,MONDO:MONDO:0016642,MedGen:C0025286,Orphanet:2495|MedGen:C3661900|MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
60_TRP TER ClinVar
chr22:30032805
rs780872661
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
60_TRP TER ClinVar
chr22:30032804
-
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
65_GLN TER ClinVar
chr22:30032818
rs2065661533
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
115_GLN TER ClinVar
chr22:30035181
-
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
121_GLN TER ClinVar
chr22:30035199
-
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
123_LYS TER ClinVar
chr22:30038194
-
Likely pathogenic - - not provided [MedGen:C3661900]
141_LEU PRO ClinVar
chr22:30038249
rs2146894322
Likely pathogenic - - not provided [MedGen:C3661900]
144_TYR TER ClinVar
chr22:30038259
rs1060503667
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
147_GLN TER ClinVar
chr22:30038266
rs2146894926
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
161_GLY TER ClinVar
chr22:30050679
rs1303879665
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
165_GLN TER ClinVar
chr22:30050691
rs1601611973
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
167_GLU TER ClinVar
chr22:30050697
-
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
168_LEU TER ClinVar
chr22:30050701
-
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
177_TYR TER ClinVar
chr22:30051597
rs780880330
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
177_TYR TER ClinVar
chr22:30051597
-
Pathogenic - - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
182_GLU TER ClinVar
chr22:30051610
rs74315495
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
184_TRP TER ClinVar
chr22:30051617
rs1555993293
Likely pathogenic - - Ependymoma [Human Phenotype Ontology:HP:0002888,MONDO:MONDO:0016698,MeSH:D004806,MedGen:C0014474,Orphanet:251636]
185_GLU TER ClinVar
chr22:30051619
rs2146972508
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
192_TYR TER ClinVar
chr22:30051642
-
Pathogenic - - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
196_ARG TER ClinVar
chr22:30051652
rs1555993336
Pathogenic - - Neurofibromatosis, type 2|not provided|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
198_ARG TER ClinVar
chr22:30051658
rs1555993345
Pathogenic - - Neurofibromatosis, type 2|not provided [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637|MedGen:C3661900]
204_GLU TER ClinVar
chr22:30054188
-
Pathogenic - - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
204_GLU GLN 8.3kJPN
chr22:30054188
rs1569295916
- 0.0003 - -
212_GLN TER ClinVar
chr22:30054212
rs2146989887
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
215_GLU TER ClinVar
chr22:30054221
-
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
219_VAL MET ClinVar
chr22:30054233
rs1555994816
Likely pathogenic - - not provided [MedGen:CN517202]
220_ASN TYR ClinVar
chr22:30054236
rs1601618646
Pathogenic - - Neurofibromatosis, type 2|not provided [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637|MedGen:C3661900]
221_TYR TER ClinVar
chr22:30054241
rs2146990737
Pathogenic - - not provided|Hereditary cancer-predisposing syndrome [MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
227_LYS TER ClinVar
chr22:30057197
rs2066466759
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
249_ARG TER ClinVar
chr22:30057263
-
Pathogenic - - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
251_THR ASN 8.3kJPN
chr22:30057270
-
- 0.0001 - -
252_PRO ALA 8.3kJPN
chr22:30057272
-
- 0.0001 - -
258_TRP TER ClinVar
chr22:30057292
rs2147010427
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
262_ARG TER ClinVar
chr22:30057302
rs74315496
Pathogenic - - Neurofibromatosis, type 2|not provided [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637|MedGen:C3661900]
266_TYR TER ClinVar
chr22:30057316
rs917257652
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
269_LYS TER ClinVar
chr22:30057323
-
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
288_SER TER ClinVar
chr22:30061031
rs2066580454
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
291_ARG CYS 8.3kJPN
chr22:30061039
rs754093587
- 0.0001 - -
298_GLN TER ClinVar
chr22:30064328
rs2147051643
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
312_LYS TER ClinVar
chr22:30064370
rs2147052253
Pathogenic - - Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
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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.