Background

Perchlorate Test

SLC26A4 Mutations

Domains

Listed Mutations

Isoform B (NM_000503)

Click on a mutation below to see the 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_15del					(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348delA	T116fs	4	AGTTTACCAC delA GGAATGCAAC		BTNRH, unpublished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	I146X	4	GCCAGGACAG delCCGTACGG CATTTCCTCA	BO syndrome	(Vincent, Kalatzis et al. 1997)
402C>A	Y134X	4	GACAGCCGTA C/A GGCATTTCCT		BTNRH, unpublished
450delTG		5	AGACTGAAGG delTG GATTGTCACA		MORL
486_487insT	S187X	5	ACAGACAGGA insT TTTCTCAGCT		(Rickard, Boxer et al. 2000)
553C>T	Q185X	5	TAGTTCACAG C>T Aggtaattta		MORL
585A>G	I195M	6	CATCAGGAAT A>G TATACAGGAA		MORL
596T>A	Y196X	6	ATCAGGAATA T>A ATACAGGAAA		Okada et al., Pediatr Nephrol (2006) [Epub ahead of print]
599_600insA	N209X	6	CAGGAAATAA insA TTCACTCACA		MORL
602C>G	S201X	6	GGAAATAATT C>G ACTCACAAAT		MORL
616T>G	S206A	6	CACAAATTCC T>G CTGGATTTAA		MORL
IVS6_EX7del		7		del 70bp	(Vervoort, Smith et al. 2002)
632C>G	S211X	6	TTTAATAGTT C>G ACAGCAGgta		Uno, T. Ped International;(2004) 46, pg 615
619G>T	G207X	6	AAATTCCTCT G/T GATTTAATAG		MORL, BTNRH, unpublished
634C>T	Q212X	6	TAATAGTTCA C/T AGCAGgtaat		BTNRH, unpublished
638A>T	Q213L	6	AGTTCACAGC A>T Ggtaatttaa		MORL
639G>C	Q213H	6	GTTCACAGCA G>C gtaatttaaa		MORL
639+1G>A		6	TTCACAGCAG g>a taatttaaaa	splicing error	Estefanía et al., Annals of Human Genetics (2006) 70,140–144
639+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IVS06+2delT		IVS6	TCACAGCAGg delt aatttaaaaa	splicing error	BTNRH, unpublished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A		IVS6	attcttgtgt G/A gtttgatttg	splicing error	BTNRH, unpublished
657delC		7	CGTCTTATCC delC AGTTTTGGCC	stop 207	Migliosi, V.Clinical Gen;(2004) 66(5); 478-480
678C>G	Y226X	7	AGGGTCAGTA C>G GCACAGTATT		(Usami, Abe et al. 1999)
724A>G	S242G	7	TTATATGACC A>G GCAGCAACAC		Yashima, T. Acta Oto;(2003) 123: 279-282.
768C>A	Y256X	7	ATGCCACTTA C>A CAGCTTCAAG		MORL
777insA	E260fs	7	CCAGCTTCAA insA GAACCGCCAT		BTNRH, unpublished
806delC		7	ACCAGCCAAG delC AGTTACAGAT		MORL
826G>T	E276X	7	TCCCACAGCA G>T gtaattatgt		Clarke et al., Clin Genet 70: 63-67 (2006)
831C>A	Y277X	8	ctgcagAGTA C>A AGCACAATCC		(Rickard, Boxer et al. 2000)
845_852delGCCATCA		8	ACAATCCACA delGCCCATCA ACACCCATTA	leads to stop at aa 252	MORL
C851G	S284X	8	CACAGCCCAT C>G AACACCCATT		MORL
854_855insC	K288X	8	GCCCATCAAC insC ACCCATTAAA		(Abdelhak, Kalatzis et al. 1997)
858delC		8	CATCAACACC delC ATTAAAGATT	stop 332	Migliosi, V.Clinical Gen;(2004) 66(5); 478-480
863_866delAAGA	K289fs	8	ACACCCATTA delAAGA GAGGTTCAGA		BTNRH, unpublished
866delA	D288fs	8	CCCATTAAAG delA TTCAGATTCT		BTNRH, unpublished
876insC	S292P; leads to 293X	8	ATTCAGATTC insC TGATCGATTG		MORL
880C>T	R294X	8	AGATTCTGAT C>T GATTGCGTCG