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- PDB-5n6w: Retinoschisin R141H Mutant -

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Basic information

Entry
Database: PDB / ID: 5n6w
TitleRetinoschisin R141H Mutant
DescriptorRetinoschisin
KeywordsSTRUCTURAL PROTEIN / Retinoschisin Discoidin Domain Retinal Structure / structural protein
Specimen sourceHomo sapiens / human
MethodElectron microscopy (4.2 A resolution / Single particle)
AuthorsRamsay, E.P. / Collins, R.F. / Owens, T.W. / Siebert, C.A. / Jones, R.P.O. / Roseman, A. / Wang, T. / Baldock, C.
CitationHum. Mol. Genet., 2016, 25, 5311-5320

Hum. Mol. Genet., 2016, 25, 5311-5320 StrPapers
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
Ewan P Ramsay / Richard F Collins / Thomas W Owens / C Alistair Siebert / Richard P O Jones / Tao Wang / Alan M Roseman / Clair Baldock

DateDeposition: Feb 16, 2017 / Release: Apr 12, 2017

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Assembly

Deposited unit
A: Retinoschisin
B: Retinoschisin
C: Retinoschisin
D: Retinoschisin
E: Retinoschisin
F: Retinoschisin
G: Retinoschisin
H: Retinoschisin
I: Retinoschisin
J: Retinoschisin
K: Retinoschisin
L: Retinoschisin
M: Retinoschisin
N: Retinoschisin
O: Retinoschisin
P: Retinoschisin


Theoretical massNumber of molelcules
Total (without water)368,67016
Polyers368,67016
Non-polymers00
Water0
#1


TypeNameSymmetry operationNumber
identity operation1_5551
Buried area (A2)29630
ΔGint (kcal/M)-130
Surface area (A2)131310
MethodPISA

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Components

#1: Polypeptide(L)
Retinoschisin / X-linked juvenile retinoschisis protein


Mass: 23041.902 Da / Num. of mol.: 16 / Mutation: R141H Pathogenic Mutation / Source: (gene. exp.) Homo sapiens / human / References: UniProt: O15537

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Experimental details

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Experiment

ExperimentMethod: ELECTRON MICROSCOPY
EM experimentReconstruction method: SINGLE PARTICLE

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Sample preparation

ComponentName: Retinoschisin
Details: Hexadecameric complex of sixteen retinoschisin molecules
Type: COMPLEX
Specimen supportGrid material: COPPER / Grid mesh size: 400 / Grid type: Electron Microscopy Sciences, C-Flat 2/2
VitrificationInstrument: FEI VITROBOT MARK I / Cryogen name: ETHANE / Humidity: 100 %

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Electron microscopy imaging

Experimental equipment
Model: Titan Krios / Image courtesy: FEI Company
MicroscopyMicroscope model: FEI TITAN KRIOS
Electron gunElectron source: FIELD EMISSION GUN / Accelerating voltage: 300 / Illumination mode: SPOT SCAN
Electron lensMode: BRIGHT FIELD / Nominal magnification: 105000 / Nominal defocus max: 4500 / Nominal defocus min: 1000 / Cs: 2.7
Specimen holderSpecimen holder model: FEI TITAN KRIOS AUTOGRID HOLDER

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Processing

3D reconstructionResolution: 4.2 / Resolution method: FSC 0.143 CUT-OFF / Number of particles: 7056
Atomic model buildingRef protocol: FLEXIBLE FIT / Target criteria: Cross-Correlation

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