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
Disease name
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]
219_VAL MET ClinVar
chr22:30054233
rs1555994816 Likely pathogenic not provided [MedGen:CN517202]
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]