User:Dpryan/Sandbox: Difference between revisions

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Latest revision as of 01:10, 17 September 2007

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<nowiki>{{protein

{{Infobox_Disease |

|Name=Two-pore-___domain K⁺ channel 2.1/''TWIK''-related K⁺ 1

Name = {{PAGENAME}} |

|caption=

Image = |

|image=

Caption = |

|width=

DiseasesDB = 33689 |

|HGNCid=6277

ICD10 = {{ICD10|G|40|3|g|40}}|

|Symbol=KCNK2

ICD9 = |

|AltSymbols=TREK1, K_2P2.1

ICDO = |

|EntrezGene=3776

OMIM = 121200 |

|OMIM=603219

OMIM_mult = {{OMIM2|121201}} {{OMIM2|608217}} |

|RefSeq=

MedlinePlus = |

|UniProt=O95069

eMedicineSubj = neuro |

|PDB=

eMedicineTopic = 32 |

|ECnumber=

}}

|Chromosome=1

|Arm=q

|Band=41

|LocusSupplementaryData=

}}</nowiki>

Lead for TREK1 here

==Classification==

==Structure==

==Signs and symptoms==

==PathophysiologyExpression==

==Physiology==

{| class="wikitable"

|+Table 1. Mutations in KCNQ2 associated with BFNC

|- style="vertical-align: bottom;"

! colspan="2" | Mutation

! rowspan="2" | Region

! rowspan="2" | Functional Consequence

! rowspan="2" | References

|-

![[Nucleotide]]

![[Amino acid]]

|-

! c.232delC

! Q78fsX132

| N-Terminus

|

| <ref name="Claes_2004"/>

|-

! c.314_316delCCT

! S105CfsX872

| S1

|

| <ref name="Claes_2004"/>

|-

! c.387+1G→T

! [[Splicing (genetics)|Splicing]]

| S2

|

| <ref name="Singh_2003"/>

|-

! c.584_593del10insA

! S195X

| S4

|

| <ref name="Bassi_2005"/>

|-

! c.C587T+c.T590C

! A196V+L197P

| S4

|

| <ref name="Moulard_2001"/>

|-

! c.C619T

! R207W

| S4

| style="background: red;" | Slowed activation

| <ref name="Dedek_2001"/>

|-

! c.G622A

! M208V

| S4

| None

| <ref name="Singh_2003"/>

|-

! c.C641T

! R214W

| S4

| style="background: red;" | Slowed activation and increased deactivation

| <ref name="del_Giudice_2000"/>^,<ref name="Dedek_2001"/>^,<ref name="Castaldo_2002"/>

|-

! c.C674G

! H228Q

| S4-S5

|

| <ref name="Singh_2003"/>

|-

! c.T727C

! L243F

| S5

|

| <ref name="Singh_2003"/>

|-

! c.C740G

! S247W

| S5

| style="background: red;" | No current and [[dominant negative]]

| <ref name="Singh_2003"/>

|-

! c.G807A

! W269X

| Pore

|

| <ref name="Singh_2003"/>

|-

! c.848_849insGT

! K283fsX329

| Pore

|

| <ref name="Singh_1998"/>^,<ref name="Singh_2003"/>

|-

! c.A851G

! Y284C

| Pore

| style="background: red;" | Current decreased by ~50%

| <ref name="Singh_1998"/>^,<ref name="Schroeder_1998"/>^,<ref name="Schwake_2000"/>^,<ref name="Castaldo_2002"/>^,<ref name="Singh_2003"/>

|-

! c.G916A

! A306T

| S6

| style="background: red;" | Current descreased by ~80%

| <ref name="Singh_1998"/>^,<ref name="Schroeder_1998"/>^,<ref name="Schwake_2000"/>^,<ref name="Singh_2003"/>

|-

! c.C967T

! Q323X

| C-Terminus

| style="background: red;" | Current reduction by ~50%

| <ref name="Singh_2003"/>

|-

! c.G998A

! R333Q

| C-Terminus

| style="background: red;" | Current reduction by ~40%

| <ref name="Singh_2003"/>

|-

! c.T1016G

! R339L

| C-Terminus

|

| <ref name="Moulard_2001"/>

|-

! c.1118+1G→A

! [[Splicing (genetics)|Splicing]]

| C-Terminus

|

| <ref name="Claes_2004"/>

|-

! c.[[Intron]] 8_[[3' UTR]] del

! Deletion 382→[[3' UTR]]

| C-Terminus

|

| <ref name="Singh_1998"/>^,<ref name="Singh_2003"/>

|-

! c.1217+2T→G

! [[Splicing (genetics)|Splicing]]

| C-Terminus

|

| <ref name="Lee_2001"/>

|-

! c.C1342T

! R448X

| C-Terminus

| style="background: red;" | Current reduction by ~40%

| <ref name="Moulard_2001"/>^,<ref name="Singh_2003"/>

|-

! c.1369_1370delAA

! K457EfsX458

| C-Terminus

|

| <ref name="Pereira_2004"/>

|-

! c.1564_1576del

! S522fsX524

| C-Terminus

|

| <ref name="Singh_1998"/>^,<ref name="Singh_2003"/>

|-

! c.1600_1601insGCCCT

! Y534fsX538

| C-Terminus

| style="background: red;" | No current due to no trafficking

| <ref name="Biervart_1998"/>^,<ref name="Schroeder_1998"/>^,<ref name="Schwake_2000"/>

|-

! c.1630-1G→A

! [[Splicing (genetics)|Splicing]]

| C-Terminus

|

| <ref name="Singh_1998"/>^,<ref name="Singh_2003"/>

|-

! c.G1658A

! R553Q

| C-Terminus

|

| <ref name="Moulard_2001"/>

|-

! c.G1662T[[#asterisks|*]]

! K554N

| C-Terminus

| style="background: red;" | Decreased voltage sensitivity of activation

| <ref name="Borgatti_2004"/>

|-

! c.C1741T

! R581X

| C-Terminus

|

| <ref name="Singh_2003"/>

|-

! c.1931delG

! S644TfsX901(extX56)

| C-Terminus

|

| <ref name="Tang_2004"/>

|-

! c.1959del?

! T653fsX929(extX56)

| C-Terminus

|

| <ref name="Singh_2003"/>

|-

! c.2127delT

! P709fs929X(extX57)

| C-Terminus

| style="background: red;" | No current

| <ref name="Coppola_2003"/>

|-

! c.2597delG

! G866AfsX929(extX56)

| C-Terminus

| style="background: red;" | Current decreased by ~95%

| <ref name="Lerche_1999"/>^,<ref name="Coppola_2003"/>

|-

! c.2599_2600insGGGCC

! W867fsX931(extX58)

| C-Terminus

| style="background: red;" | Current reduction by ~75%

| <ref name="Singh_2003"/>

|-

| colspan="5" | <div id="asterisks">* Misreported (twice in the same article) as G1662A (G1620A in the original numbering), which would not cause an amino acid change.</div>

|-

| colspan="5" | '''N.B.''' Mutations nucleotide/amino acid positions in terms of transcript variant 1 ([http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=110611240 NM_172107]) available from [[Pubmed]]. Consequently, some mutation positions differ from those reported in the original literature.

|}

==Pathology==

==Diagnosis==

==Treatment/Management==

==Prognosis==

==Epidemiology==

==References==

<nowiki>{{Ion channels}}

==See also==

[[Category:Ion channels]]</nowiki>

==External links==

==Footnotes==

== References ==

<!-- ----------------------------------------------------------

See http://en.wikipedia.org/wiki/Wikipedia:Footnotes for a

discussion of different citation methods and how to generate

footnotes using the <ref>, </ref> and <reference /> tags

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<div class="references-small">

<references />

</div>

<nowiki>[[Category:Neurological Disorders]]

[[Category:Genetic Disorders]]

[[Category:Channelopathy]]</nowiki>