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     Background

     EYA1 Mutations

        Isoform A

        Isoform B

        Isoform C

     SIX1 Mutations

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Isoform A (NM_172060)

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) 
65C>T T22M 2 ACAGCTTCAA
C>T
GACAGCCGAC		 conseq 9 MORL
249delA T83fs 4 AGTTTACCAC delA GGAATGCAAC   BTNRH, unpublished
298_305delCCGTACGG  I113X 4 GCCAGGACAG
delCCGTACGG
CATTTCCTCA		 BO syndrome (Vincent, Kalatzis et al. 1997) 
303 C>A Y101X 4 GACAGCCGTA
C/A
GGCATTTCCT		   BTNRH, unpublished
351delTG   5 AGACTGAAGG
delTG
GATTGTCACA		   MORL
387_388insT  S154X 5 ACAGACAGGA
insT
TTTCTCAGCT		   (Rickard, Boxer et al. 2000) 
454C>T Q152X 5 TAGTTCACAG
C>T
Aggtaattta		   MORL
480T>C 144X   TCAACCTGGA T>C AGGCACCATA   Lee et al. Intl J Ped Otorhinolaryngology 71(1):169-74 (2007)
486A>G I162M 6 CATCAGGAAT
A>G
TATACAGGAA		   MORL
497T>A Y163X 6 ATCAGGAATA
T>A
ATACAGGAAA		   Okada et al., Pediatr Nephrol (2006) 21: 475-481
500_501insA  N176X 6 CAGGAAATAA
insA
TTCACTCACA		   MORL
503C>G S168X 6 GGAAATAATT
C>G
ACTCACAAAT		   MORL
517T>G S173A 6 CACAAATTCC
T>G
CTGGATTTAA		   MORL
IVS6_EX7del   7   del 70bp (Vervoort, Smith et al. 2002) 
533C>G S178X 6 TTTAATAGTT
C>G
ACAGCAGgta		   Uno, T. Ped International;(2004) 46, pg 615
520G>T G174X 6 AAATTCCTCT G/T GATTTAATAG   MORL, BTNRH, unpublished
535C>T Q179X 6 TAATAGTTCA C/T AGCAGgtaat   BTNRH, unpublished
539A>T Q180L 6 AGTTCACAGC
A>T
Ggtaatttaa		   MORL
540G>C Q180H 6 GTTCACAGCA
G>C
gtaatttaaa		    
540+1G>A   6 TTCACAGCAG
g>a
taatttaaaa		 splicing error Estefanía et al., Annals of Human Genetics (2005) 70,140–144
540+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IVS06+2delT   IVS6 TCACAGCAGg delt aatttaaaaa splicing error BTNRH, unpublished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A   IVS6 attcttgtgt G/A gtttgatttg splicing error BTNRH, unpublished
558delC   7 CGTCTTATCC
delC
AGTTTTGGCC		 stop 207 Migliosi, V.Clinical Gen;(2004) 66(5); 478-480
579C>G  Y193X 7 AGGGTCAGTA
C>G
GCACAGTATT		   (Usami, Abe et al. 1999) 
625A>G S209G 7 TTATATGACC
A>G
GCAGCAACAC		   Yashima, T. Acta Oto;(2003) 123: 279-282.
669C>A Y223X 7 ATGCCACTTA
C>A
CAGCTTCAAG		   MORL
678insA E227fs 7 CCAGCTTCAA insA GAACCGCCAT   BTNRH, unpublished
707delC    7 ACCAGCCAAG
delC
AGTTACAGAT		   MORL
727G>T E243X 7 TCCCACAGCA
G>T
gtaattatgt		   Clarke et al., Pediatric Research (2005) 58:819, abstract
732C>A Y244X 8 ctgcagAGTA
C>A
AGCACAATCC		   (Rickard, Boxer et al. 2000) 
746_753delGCCATCA   8 ACAATCCACA
delGCCCATCA
ACACCCATTA		 leads to stop at aa 252 MORL
752C>G S251X 8 CACAGCCCAT
C>G
AACACCCATT		   MORL
755_756insC  K255X 8 GCCCATCAAC
insC
ACCCATTAAA		   (Abdelhak, Kalatzis et al. 1997) 
759delC   0 CATCAACACC
delC
ATTAAAGATT		 stop 332 Migliosi, V.Clinical Gen;(2004) 66(5); 478-480
764_767delAAGA K256fs 8 ACACCCATTA delAAGA GAGGTTCAGA   BTNRH, unpublished
767delA D255fs 8 CCCATTAAAG delA TTCAGATTCT   BTNRH, unpublished
777insC S259P; leads to 260X 8