PiSITE

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

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Only interaction residues

#binding
partners

	3
	2
	1
	0

Sequence information

GMAGAIASRM

SFSSLKRKQP

KTFTVRIVTM

DAEMEFNCEM

KWKGKDLFDL

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	-	-
32_GLU	TER	ClinVar chr22:30000081 -	Likely pathogenic	-	-	Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
33_MET	VAL	8.3kJPN chr22:30000084 -	-	0.0001	-	-
37_CYS	TER	ClinVar chr22:30000098 rs1302428933	Pathogenic	-	-	Neurofibromatosis, type 2\|not provided [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637\|MedGen:C3661900]
38_GLU	TER	ClinVar chr22:30000099 rs2518228232	Pathogenic	-	-	Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
40_LYS	TER	ClinVar chr22:30032743 rs2146851519	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 rs2146853282	Pathogenic	-	-	Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
64_LEU	PRO	ClinVar chr22:30032816 rs2065661430	Likely pathogenic	-	-	Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
65_GLN	TER	ClinVar chr22:30032818 rs2065661533	Pathogenic	-	-	Neurofibromatosis, type 2\|Meningioma [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637\|Human Phenotype Ontology:HP:0002858,Human Phenotype Ontology:HP:0006754,MONDO:MONDO:0016642,MedGen:C0025286,Orphanet:2495]
87_SER	TER	ClinVar chr22:30035098 -	Pathogenic	-	-	Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
115_GLN	TER	ClinVar chr22:30035181 rs1350618734	Pathogenic	-	-	Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
121_GLN	TER	ClinVar chr22:30035199 rs1006294051	Pathogenic	-	-	Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
123_LYS	TER	ClinVar chr22:30038194 rs2146892731	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]
144_TYR	TER	ClinVar chr22:30038259 -	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 rs2066248439	Pathogenic	-	-	Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
168_LEU	TER	ClinVar chr22:30050701 rs2146967302	Pathogenic	-	-	Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
177_TYR	TER	ClinVar chr22:30051597 rs780880330	Pathogenic	-	-	Neurofibromatosis, type 2\|Meningioma [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637\|Human Phenotype Ontology:HP:0002858,Human Phenotype Ontology:HP:0006754,MONDO:MONDO:0016642,MedGen:C0025286,Orphanet:2495]
177_TYR	TER	ClinVar chr22:30051597 rs780880330	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 rs149803133	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\|Familial meningioma [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162\|MONDO:MONDO:0011789,MedGen:C3551915,OMIM:607174,Orphanet:263662]; Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
198_ARG	TER	ClinVar chr22:30051658 rs1555993345	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]
204_GLU	TER	ClinVar chr22:30054188 rs1569295916	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 rs2518575597	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\|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
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 rs2147009482	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\|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
258_TRP	TER	ClinVar chr22:30057291 -	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\|Meningioma [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002858,Human Phenotype Ontology:HP:0006754,MONDO:MONDO:0016642,MedGen:C0025286,Orphanet:2495]
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 rs2147011325	Pathogenic	-	-	Neurofibromatosis, type 2 [MONDO:MONDO:0007039,MedGen:C0027832,OMIM:101000,Orphanet:637]
270_GLU	GLU	ClinVar chr22:30057328 -	Likely pathogenic	-	-	Acoustic neuroma [Human Phenotype Ontology:HP:0009588,MONDO:MONDO:0001569,MedGen:C0027859,Orphanet:252175]
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

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Sequence information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Variants

Reference