Background

Perchlorate Test

SLC26A4 Mutations

Domains

Listed Mutations

Isoform C (NM_172059)

Click on mutation below to see location within EYA1*.

Mutation description	AA change	Exon	Context	Comment	Reference
8q12.2-q21.2 deletion				BOR and Duane	(Vincent, Kalatzis et al. 1994)
dirins(8)(q24.11q13.3q21.13)				TRPS and BOS- 7kb deletion	(Haan, Hull et al. 1989)
Deletion of entire EYA1 and surrounding region				OFC syndrome	(Rickard, Parker et al. 2001)
Deletion of entire EYA1				BOR	(Rickard, Parker et al. 2001)
inv 1.7kb		1			(Vervoort, Smith et al. 2002)
EX2_9del				del 85kb	(Vervoort, Smith et al. 2002)
EX3_5del;EX10_14del					(Vervoort, Smith et al. 2002)
164C>T	T55M	2	ACAGCTTCAA C>T GACAGCCGAC	conseq 9	MORL
348delA	T116fs	4	AGTTTACCAC delA GGAATGCAAC		BTNRH, unpublished
397_404delCCGTACGG	I141X	4	GCCAGGACAG delCCGTACGG CATTTCCTCA	BO syndrome	(Vincent, Kalatzis et al. 1997)
402C>A	Y134X	4	GACAGCCGTA C/A GGCATTTCCT		BTNRH, unpublished
435delTG		5	AGACTGAAGG delTG GATTGTCACA		MORL
471_472insT	S182X	5	ACAGACAGGA insT TTTCTCAGCT		(Rickard, Boxer et al. 2000)
538C>T	Q180X	5	TAGTTCACAG C>T Aggtaattta		MORL
570A>G	I190M	6	CATCAGGAAT A>G TATACAGGAA		MORL
581T>A	Y191X	6	ATCAGGAATA T>A ATACAGGAAA		Okada et al., Pediatr Nephrol (2006) [Epub ahead of print]
584_585insA	N204X	6	CAGGAAATAA insA TTCACTCACA		MORL
587C>G	S196X	6	GGAAATAATT C>G ACTCACAAAT		MORL
601T>G	S201A	6	CACAAATTCC T>G CTGGATTTAA		MORL
IVS6_EX7del		7		del 70bp	(Vervoort, Smith et al. 2002)
617C>G	S206X	6	TTTAATAGTT C>G ACAGCAGgta		Uno, T. Ped International;(2004) 46, pg 615
604G>T	G202X	6	AAATTCCTCT G/T GATTTAATAG		MORL, BTNRH, unpublished
619C>T	Q207X	6	TAATAGTTCA C/T AGCAGgtaat		BTNRH, unpublished
623A>T	Q208L	6	AGTTCACAGC A>T Ggtaatttaa		MORL
624G>C	Q208H	6	GTTCACAGCA G>C gtaatttaaa		MORL
624+1G>A		6	TTCACAGCAG g>a taatttaaaa	splicing error	Estefanía et al., Annals of Human Genetics (2005) 70,140–144
624+1G>C		6	TTCACAGCAG g>c taatttaaaa	splicing error	MORL
IVS06+2delT		IVS6	TCACAGCAGg delt aatttaaaaa	splicing error	BTNRH, unpublished
IVS06-15G>A		IVS6	attcttgtgt G/A gtttgatttg	splicing error	BTNRH, unpublished
642delC		7	CGTCTTATCC delC AGTTTTGGCC	stop 207	Migliosi, V.Clinical Gen;(2004) 66(5); 478-480
663C>G	Y221X	7	AGGGTCAGTA C>G GCACAGTATT		(Usami, Abe et al. 1999)
709A>G	S237G	7	TTATATGACC A>G GCAGCAACAC		Yashima, T. Acta Oto;(2003) 123: 279-282.
753C>A	Y251X	7	ATGCCACTTA C>A CAGCTTCAAG		MORL
762insA	E255fs	7	CCAGCTTCAA insA GAACCGCCAT		BTNRH, unpublished
791delC		7	ACCAGCCAAG delC AGTTACAGAT		MORL
811G>T	E271X	7	TCCCACAGCA G>T gtaattatgt		Clarke et al., Pediatric Research (2005) 58:819, abstract
816C>A	Y272X	8	ctgcagAGTA C>A AGCACAATCC		(Rickard, Boxer et al. 2000)
830_837delGCCATCA		8	ACAATCCACA delGCCCATCA ACACCCATTA	leads to stop at aa 252	MORL
C836G	S279X	8	CACAGCCCAT C>G AACACCCATT		MORL
839_840insC	K283X	8	GCCCATCAAC insC ACCCATTAAA		(Abdelhak, Kalatzis et al. 1997)
843delC		8	CATCAACACC delC ATTAAAGATT	stop 332	Migliosi, V.Clinical Gen;(2004) 66(5); 478-480
848_851delAAGA	K284fs	8	ACACCCATTA delAAGA GAGGTTCAGA		BTNRH, unpublished
851delA	D283fs	8	CCCATTAAAG delA TTCAGATTCT		BTNRH, unpublished
861insC	S287P; leads to 288X	8	ATTCAGATTC insC TGATCGATTG		MORL
865C>T