PDB ID 1H4R     CHAIN A
Protein name MERLIN
PDB 1H4R
The number of similar proteins 11
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

#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
(4.7kJPN)
Disease name
29_MET LEU 4.7kJPN
chr22:30000072
-
- 0.0001 -
41_TRP TER ClinVar
chr22:30032747
rs1555986860
Pathogenic - not provided [MedGen:CN517202]
57_ARG TER ClinVar
chr22:30032794
rs121434259
Pathogenic - Meningioma [Human Phenotype Ontology:HP:0002858,MedGen:C0025286,Orphanet:ORPHA2495]; Neurofibromatosis, type 2 [MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002]; not provided [MedGen:CN517202]
60_TRP TER ClinVar
chr22:30032805
rs780872661
Pathogenic - Neurofibromatosis, type 2 [MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002]
62_PHE SER ClinVar
chr22:30032810
rs121434261
Pathogenic - Neurofibromatosis, type 2 [MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002]
144_TYR TER ClinVar
chr22:30038259
rs1060503667
Pathogenic - Neurofibromatosis, type 2 [MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002]
182_GLU TER ClinVar
chr22:30051610
rs74315495
Pathogenic - Neurofibromatosis, type 2 [MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002]
184_TRP TER ClinVar
chr22:30051617
rs1555993293
Likely pathogenic - Ependymoma [Human Phenotype Ontology:HP:0002888,MeSH:D004806,MedGen:C0014474,Orphanet:ORPHA251636,SNOMED CT:57706008]
196_ARG TER ClinVar
chr22:30051652
rs1555993336
Pathogenic - Neurofibromatosis, type 2 [MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002]; not provided [MedGen:CN517202]
198_ARG TER ClinVar
chr22:30051658
rs1555993345
Pathogenic - Neurofibromatosis, type 2 [MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002]; not provided [MedGen:CN517202]
204_GLU GLN 4.7kJPN
chr22:30054188
-
- 0.0004 -
219_VAL MET ClinVar
chr22:30054233
rs1555994816
Likely pathogenic - not provided [MedGen:CN517202]
251_THR ASN 4.7kJPN
chr22:30057270
-
- 0.0002 -
252_PRO ALA 4.7kJPN
chr22:30057272
-
- 0.0002 -
262_ARG TER ClinVar
chr22:30057302
rs74315496
Pathogenic - Neurofibromatosis, type 2 [MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002]
266_TYR TER ClinVar
chr22:30057316
rs917257652
Pathogenic - Neurofibromatosis, type 2 [MedGen:C0027832,OMIM:101000,Orphanet:ORPHA637,SNOMED CT:92503002]
291_ARG CYS 4.7kJPN
chr22:30061039
rs754093587
- 0.0001 -
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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.