Disease #05397 (CCM1 (cerebral cavernous malformations, type 1), OMIM:116860)

Official abbreviation	CCM1
Name	cerebral cavernous malformations, type 1
OMIM ID	116860
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	26
Phenotype entries for this disease	25
Associated with 1 gene	KRIT1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2018-02-20 09:46:29 +01:00 (CET)
Date last edited	2022-06-17 15:06:46 +02:00 (CEST)

Individuals

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
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Antigua and Barbuda
(Antigua and Barbuda)
Argentina
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Armenia
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Aruba
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Australia
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Austria
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Azerbaijan
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Bahamas
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Bahrain
(Bahrain)
Bangladesh
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Barbados
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Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
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Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
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East Timor
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Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
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Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
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Hong Kong
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Hungary
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Iceland
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India
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Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
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Maldives
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Mali
(Mali)
Mallorca
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Malta
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Marshall Islands
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Martinique
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Mauritania
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Mauritius
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Mayotte
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Mexico
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Micronesia
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Moldova
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Monaco
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Mongolia
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Montserrat
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Morocco
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Mozambique
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Myanmar
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Namibia
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Nauru
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Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
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Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
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New Zealand
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Nicaragua
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Niger
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Nigeria
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Niue
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Norfolk Island
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Northern Ireland
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Northern Mariana Islands
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Norway
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Oman
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Pakistan
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Palau
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Palestine
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Panama
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Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
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Puerto Rico
(Puerto Rico)
Qatar
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Reunion
(Reunion)
Romania
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Russia
(Russia)
Russian Federation
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Rwanda
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S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
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South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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26 entries on 1 page. Showing entries 1 - 26.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00165057	-	-	-	?	?	-	-	-	-	-	-	CCM1	-	KRIT1	KRIT1	1	1	Carmela Fusco
00165692	?	PubMed: Nardella 2018	2 families with 5 affected	-	-	Italy	white	-	-	-	-	CCM1	-	KRIT1	KRIT1	1	5	Carmela Fusco
00165693	?	PubMed: Nardella 2018	family, 1 affected	M	-	Italy	white	-	-	-	-	CCM1	headache/migraine (HP:0002076); hemiparesis (HP:0001269); sovratentorial hemangiomas; cerebellar hemangiomas; bilateral lesions	KRIT1	KRIT1	1	1	Carmela Fusco
00165694	?	PubMed: Nardella 2018	family, 1 affected	-	-	Italy	white	-	-	-	-	CCM1	-	KRIT1	KRIT1	1	1	Carmela Fusco
00170853	31	-	-	F	?	Italy	-	-	-	-	-	CCM1	Cerebellar hemangiomas, Sovratentorial hemangiomas	KRIT1	KRIT1	1	1	Carmela Fusco
00170854	32	-	-	M	?	Italy	-	-	-	-	-	CCM1	Headache (HP:0002076)	KRIT1	KRIT1	1	1	Carmela Fusco
00170857	33	-	-	F	-	Italy	-	-	-	-	-	CCM1	Headache (HP:0002076), Cerebellar hemangiomas, Sovratentorial hemangiomas	KRIT1	KRIT1	1	1	Carmela Fusco
00173726	40	-	-	F	-	Italy	-	-	-	-	-	CCM1	Intracranial haemorrage, fatigable weakness of skeletal (HP:0030197),Cerebellar hemangiomas, bilateral lesion	KRIT1	KRIT1	1	1	Carmela Fusco
00173727	40	-	-	F	-	Italy	-	-	-	-	-	CCM1	Headache (HP:0002076)	KRIT1	KRIT1	1	1	Carmela Fusco
00289359	VF	Journal: Cerase 2010, Journal: Battistini 2020	2 generation family, 2 affected (proband and proband's father). Father with cutaneous angiomas.	F	no	Italy	white	>45y	-	yes	none	CCM1	Cavernous malformation of the optic nerve	CCM2, KRIT1, PDCD10	KRIT1	1	2	Stefania Battistini
00289360	VA	-	-	M	no	Italy	white	>72y	-	-	-	CCM1	HP:0000951	CCM2, KRIT1, PDCD10	KRIT1	1	1	Stefania Battistini
00289361	CCM42	-	2 generation family, 3 affected (proband, proband's mother and uncle)	M	no	Italy	white	>27y	-	yes	none	CCM1	HP:0001250, HP:0007359	CCM2, KRIT1, PDCD10	KRIT1	1	3	Stefania Battistini
00289362	CCM45	-	-	F	no	Italy	white	>49y	-	yes	-	CCM1	multiple CCM lesions, but clinically asymptomatic	CCM2, KRIT1, PDCD10	KRIT1	1	1	Stefania Battistini
00289363	CCM46	-	-	M	no	Italy	white	>51y	-	yes	-	CCM1	-	CCM2, KRIT1, PDCD10	KRIT1	1	1	Stefania Battistini
00289443	CCM33	-	3 affected family members (proband, proband's sister and brother)	F	no	Italy	white	>53y	-	yes	-	CCM1	cutaneous angiomas	CCM2, KRIT1, PDCD10	KRIT1	1	3	Stefania Battistini
00289444	CCM77	-	-	M	no	Italy	white	>54y	-	-	-	CCM1	-	CCM2, KRIT1, PDCD10	KRIT1	1	1	Stefania Battistini
00289445	CCM78	-	-	F	no	Italy	white	>56y	-	yes	-	CCM1	-	CCM2, KRIT1, PDCD10	KRIT1	1	1	Stefania Battistini
00289446	CCM51	-	-	F	no	Italy	white	-	-	>6y	-	CCM1	-	CCM2, KRIT1, PDCD10	KRIT1	1	2	Stefania Battistini
00289447	CCM52	-	-	F	no	Italy	white	>27y	-	-	-	CCM1	-	CCM2, KRIT1, PDCD10	KRIT1	1	1	Stefania Battistini
00289448	CCM74	-	-	F	no	Italy	white	>30y	-	-	-	CCM1	-	CCM2, KRIT1, PDCD10	KRIT1	1	2	Stefania Battistini
00289449	CCM4	-	-	M	no	Italy	white	>59y	-	-	-	CCM1	-	CCM2, KRIT1, PDCD10	KRIT1	1	1	Stefania Battistini
00289450	CCM32	-	-	M	-	Italy	white	>61y	-	-	-	CCM1	-	CCM2, KRIT1, PDCD10	KRIT1	1	1	Stefania Battistini
00295507	CCM72	-	Same mutation published in DOI:10.1007/s12031-016-0836-2	M	no	Italy	white	>34y	-	yes	-	CCM1	-	CCM2, KRIT1, PDCD10	KRIT1	1	1	Stefania Battistini
00295508	CCM63	-	-	M	no	Italy	Sardinian	73y	-	-	-	CCM1	-	CCM2, KRIT1, PDCD10	KRIT1	1	1	Stefania Battistini
00311098	CCM_KRIT1	-	-	F	-	Italy	-	-	-	-	-	CCM1	-	KRIT1	KRIT1	1	1	Carmela Fusco
00320067	CCM1	-	-	M	?	Italy	-	-	-	-	-	CCM1	-	KRT1	KRT1	1	1	Carmela Fusco

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Global Variome shared LOVD

CNGB3 (cyclic nucleotide gated channel beta 3)