User:Dpryan/Sandbox

Medical condition

Dpryan/Sandbox

Classification

Signs and symptoms

Pathophysiology

Table 1. Mutations in KCNQ2 associated with BFNC

Mutation		Region	Functional Consequence	References
Nucleotide	Amino acid
c.232delC	Q78fsX132	N-Terminus		[1]
c.314_316delCCT	S105CfsX872	S1		[1]
c.387+1G→T	Splicing	S2		[2]
c.584_593del10insA	S195X	S4		[3]
c.C587T+c.T590C	A196V+L197P	S4		[4]
c.C619T	R207W	S4	Slowed activation	[5]
c.G622A	M208V	S4	None	[2]
c.C641T	R214W	S4	Slowed activation and increased deactivation	[6],[5],[7]
c.C674G	H228Q	S4-S5		[2]
c.T727C	L243F	S5		[2]
c.C740G	S247W	S5	No current and dominant negative	[2]
c.G807A	W269X	Pore		[2]
c.848_849insGT	K283fsX329	Pore		[8],[2]
c.A851G	Y284C	Pore	Current decreased by ~50%	[8],[9],[10],[7],[2]
c.G916A	A306T	S6	Current descreased by ~80%	[8],[9],[10],[2]
c.C967T	Q323X	C-Terminus	Current reduction by ~50%	[2]
c.G998A	R333Q	C-Terminus	Current reduction by ~40%	[2]
c.T1016G	R339L	C-Terminus		[4]
c.1118+1G→A	Splicing	C-Terminus		[1]
c.Intron 8_3' UTR del	Deletion 382→3' UTR	C-Terminus		[8],[2]
c.1217+2T→G	Splicing	C-Terminus		[11]
c.C1342T	R448X	C-Terminus	Current reduction by ~40%	[4],[2]
c.1369_1370delAA	K457EfsX458	C-Terminus		[12]
c.1564_1576del	S522fsX524	C-Terminus		[8],[2]
c.1600_1601insGCCCT	Y534fsX538	C-Terminus	No current due to no trafficking	[13],[9],[10]
c.1630-1G→A	Splicing	C-Terminus		[8],[2]
c.G1658A	R553Q	C-Terminus		[4]
c.G1662T*	K554N	C-Terminus	Decreased voltage sensitivity of activation	[14]
c.C1741T	R581X	C-Terminus		[2]
c.1764-6C→A	Splicing (V589X)	C-Terminus		[15]
c.1931delG	S644TfsX901(extX56)	C-Terminus		[16]
c.1959del?	T653fsX929(extX56)	C-Terminus		[2]
c.2127delT	P709fs929X(extX57)	C-Terminus	No current due to increased degradation	[17],[18],[19]
c.2597delG	G866AfsX929(extX56)	C-Terminus	Current decreased by ~95% due to increased degradation	[20],[17],[18]
c.2599_2600insGGGCC	W867fsX931(extX58)	C-Terminus	Current reduction by ~75%	[2]
* Misreported (twice in the same article) as G1662A (G1620A in the original numbering), which would not cause an amino acid change.
N.B. Mutations nucleotide/amino acid positions in terms of transcript variant 1 (NM_172107) available from Pubmed. Consequently, some mutation positions differ from those reported in the original literature.

Diagnosis

Treatment/Management

Prognosis

Epidemiology

References

See also

External links

Footnotes

References

1. Cite error: The named reference Claes_2004 was invoked but never defined (see the help page).
2. Cite error: The named reference Singh_2003 was invoked but never defined (see the help page).
3. Cite error: The named reference Bassi_2005 was invoked but never defined (see the help page).
4. Cite error: The named reference Moulard_2001 was invoked but never defined (see the help page).
5. Cite error: The named reference Dedek_2001 was invoked but never defined (see the help page).
6. Cite error: The named reference del_Giudice_2000 was invoked but never defined (see the help page).
7. Cite error: The named reference Castaldo_2002 was invoked but never defined (see the help page).
8. Cite error: The named reference Singh_1998 was invoked but never defined (see the help page).
9. Cite error: The named reference Schroeder_1998 was invoked but never defined (see the help page).
10. Cite error: The named reference Schwake_2000 was invoked but never defined (see the help page).
11. Cite error: The named reference Lee_2001 was invoked but never defined (see the help page).
12. Cite error: The named reference Pereira_2004 was invoked but never defined (see the help page).
13. Cite error: The named reference Biervart_1998 was invoked but never defined (see the help page).
14. Cite error: The named reference Borgatti_2004 was invoked but never defined (see the help page).
15. Cite error: The named reference de_Haan_2006 was invoked but never defined (see the help page).
16. Cite error: The named reference Tang_2004 was invoked but never defined (see the help page).
17. Cite error: The named reference Coppola_2003 was invoked but never defined (see the help page).
18. Cite error: The named reference Soldovieri_2006 was invoked but never defined (see the help page).
19. Cite error: The named reference Zimprich_2006 was invoked but never defined (see the help page).
20. Cite error: The named reference Lerche_1999 was invoked but never defined (see the help page).

[[Category:Neurological Disorders]] [[Category:Genetic Disorders]] [[Category:Channelopathy]]