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     EYA1 Mutations

        Isoform A

        Isoform B

        Isoform C

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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249delA T83fs 4 AGTTTACCAC delA GGAATGCAAC   BTNRH, unpublished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  BTNRH, unpublished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T G174X 6 AAATTCCTCT G/T GATTTAATAG   MORL, BTNRH, unpublished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T Q179X 6 TAATAGTTCA C/T AGCAGgtaat   BTNRH, unpublished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IVS06+2delT   IVS6 TCACAGCAGg delt aatttaaaaa splicing error BTNRH, unpublished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A   IVS6 attcttgtgt G/A gtttgatttg splicing error BTNRH, unpublished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 ATTCAGATTC
insC
TGATCGATTG
  MORL
781C>T  R261X 8 AGATTCTGAT
C>T
GATTGCGTCG
  (Kumar, Kimberling et al. 1998) 
790C>T R264X 8 TCGATTGCGT
C>T
GAGGTTCAGA
  (Rickard, Boxer et al. 2000; Fukuda, Kuroda et al. 2001), MORL 2003
821delG G274fs 8 CGTGGACGGG delG CCGAAGAAAC   BTNRH, unpublished
823C>T  R275X 8 TGGACGGGGC
C>T
GAAGAAACAA
  (Abdelhak, Kalatzis et al. 1997) 
868-1G>A    Intron 8 ttcctttgta
g>a
AGAGTGTTCA
loss of acceptor site (Rickard, Boxer et al. 2000) 
873_874insTG    9 gtagAGAGTG
insTG
TTCATCTGGG
BO syndrome (Vincent, Kalatzis et al. 1997) 
878T>A I293N 9 AGAGTGTTCA
T>A
CTGGGACTTG
  MORL
884_885insATCTGGGA  N335X 9 TCATCTGGGA
insATCTGGGA
CTTGGATGAG
  MORL
917delinsAG  L306X 9 TTCCACTCCT
insAG
TGCTTACTGG
  (Vervoort, Smith et al. 2002) 
929delC   9 CTTACTGGGT
delC
CTACGCCAAC
  MORL
949_951+1delAGGG   IVS9 CAGATATGGG
delAGGg
tgagtaccaa
loss of donor site MORL
951+1G>C   IVS9 ATATGGGAGG
g>c
tgagtaccaa
splicing error Henriksen et al., Genetic testing (2004) 8, 404-406
951+1G>T   IVS9 ATATGGGAGG
g>t
tgagtaccaa
  MORL
IVS9del    IVS9   del 5.6 kb (Abdelhak, Kalatzis et al. 1997) 
IVS9-12T>G   IVS9 acctgtcata T/G tcttatttta new splice site BTNRH, unpublished
IVS9-1G>C   IVS9 tcttatttta
g/c
GATCCACCCA
new splice site BTNRH, unpublished
952-2A>G   IVS9 ttcttatttt
a>g
gGATCCACCC
splicing error Okada et al., Pediatr Nephrol (2006) 21: 475-481
952G>T D318Y 10 cttattttag
G>T
ATCCACCCAC
splicing error Okada et al., Pediatr Nephrol (2006) 21: 475-481
982C>T R328X 10 CCTTGGACTG C/T GAATGGAAGA   BTNRH, unpublished
ins Alu    10   aberrant splicing (Abdelhak, Kalatzis et al. 1997) 
1019_1020delAT H340fs 10 GCAGACACAC delAT TTATTTTTTA   BTNRH, unpublished
1024_1027delTTTT   0 CACACATTTA
delTTTT
TTAATGACTT
stop 346 Migliosi, V.Clinical Gen;(2004) 66(5); 478-480
1039-1041GAA>CTT E347L; IVS10+1G>C 10, IVS10 TAATGACTTA GAAG>CTTC taagttctaa missense; splicing error BTNRH, unpublished
1041+1G>T    Intron 10 TGACTTAGAA
g>t
taagttctaa
loss of donor site (Rickard, Boxer et al. 2000) 
1042-13_1051 inv    Intron 10   loss of acceptor site (Rickard, Boxer et al. 2000) 
1042-1G>A   Intron 10 ttgcatttta
g>a
GAATGTGACC
loss of acceptor site MORL
1057delC H353fs 11 GTGACCAAGT
delC
CATATAGATG
stop 354 MORL
IVS10_16del   10-16   del20-37kb  (Abdelhak, Kalatzis et al. 1997) 
EX11_EX15del   11-15   del 5.8-7 kb (Abdelhak, Kalatzis et al. 1997)
1101-2A>G   12 gcatataaat
a>g
gCACATATAA
splicing error MORL
 1107T>A  Y369X 12 atagCACATA
T>A
AACTTTGGAA
  Okada et al., Pediatr Nephrol (2006) 21: 475-481
1177G>A G393S 12 TGGTGTACGG
G>A
GCGGTGTGGA
BOR + cataracts (Azuma, Hirakiyama et al. 2000)
1187A>G D396G 12 GGCGGTGTGG
A>G
CTGGATGAGA
  Namba et al.,  J Hum Genet (2001) 46, 518 
1220G>A  R407Q 12 CGCTACAGAC
G>A
GGTAAAAGAG
  (Kumar, Deffenbacher et al. 1997)
1251T>CC  K427X 12 CCTACAAAAA
T>CC
AATGTTGGAG
  (Abdelhak, Kalatzis et al. 1997)
1261G>C G421R 12 ATAATGTTGGA
G>C
gcaagtgatt
  Migliosi, V.Clinical Gen;(2004) 66(5); 478-480
1279A>T K427X 13 TGGTCCAGCT
A>T
AGAGGGAAGC
  MORL
1306delG R435fs 13 GCAGTTGAGG delG GCCGAAATTGA   BTNRH, unpublished
1359_1360insC  I499X 13 GAAAGCACTC
insC
TCGCTCATTC
  (Abdelhak, Kalatzis et al. 1997) 
1360T>C  S454P 13 GAAAGCACTC
T>C
CGCTCATTCA
  (Abdelhak, Kalatzis et al. 1997; Kumar, Deffenbacher et al. 1997) 
1361C>T S454L 13 AAAGCACTCT
C>T
GCTCATTCAC
  MORL
1372delTinsAGAGC  I499X 13 GCTCATTCAC
T>AGAGC
CCCGgtgagg
  (Abdelhak, Kalatzis et al. 1997) 
1376G>C R459P 13 ATTCACTCCC
G>C
gtgaggctct
missense, splicing error BTNRH, unpublished
1376insC R459P 13 ATTCACTCCC
insC
Ggtgaggctc
leads to X 40aa after fs Kim, Intern. J. of Ped Oto; (2005) 69, 1123-1128
IVS15-2A>G   IVS13 ttgttctcat A/G gGACAAACTG splicing error BTNRH, unpublished
1388_1389delTG  T497X 14 ACAAACTGTG
delTG
AATATTTTAG
  MORL
1397delT   14 GTGAATATTT
delT
AGTAACAACT
  MORL
1402_1408delACAACTA   14 TATTTTAGTA
delACAACTA
CTCAGCTCAT
  Shimasaki et al., Pediatr Cardiol (2004) 25:411–413, 
1411C>T Q471X 14 AACAACTACT
C>T
AGCTCATCCC
  MORL
1415T>G  L472R 14 ACTACTCAGC
T>G
CATCCCAGCA
  (Abdelhak, Kalatzis et al. 1997) 
1435G>T V479F 14 ATTGGCGAAA
G>T
TCCTGCTGTA
conseq 9 MORL
1439T>C L480P 14 GCGAAAGTCC T/C GCTGTATGGG   BTNRH, unpublished
1456-1457insA   14 GGGTTAGGAA
insA
TTGTATTTCC
stop 497 Migliosi, V.Clinical Gen;(2004) 66(5); 478-480
1480T>A Y494N 14 AGAAAATATT T/A ACAGTGCAAC   BTNRH, unpublished
1481A>G Y494C 14 GAAAATATTT A/G CAGTGCAACT   BTNRH, unpublished
1498+2T>G    14 CTAAAATAGg
t>g
gagctgcttt
intron aberrant splicing (Abdelhak, Kalatzis et al. 1997) 
1499-1G>A   Intron 14 ttgttcacta
g>a
GAAAAGAAAG
splicing error Okada et al., Pediatr Nephrol (2006) 21: 475-481
1501_1504delAAAG R507X 15 ttcactagGA
delAAAG
AAAGCTGTTTT
  (Kumar, Kimberling et al. 1998) 
1504_1508delGAAAG   15 actagGAAAA
delGAAAG
CTGTTTTGAG
  MORL
1505_1508delAAAG S503fs 15 ctagGAAAAG delAAAG CTGTTTTGAG   BTNRH, unpublished
1515_1516insGTTT  R506X 15 AAGCTGTTTT
insGTTT
GAGAGAATAA
  MORL
1545delA K515fs 15 TTGGAAGAAA delA GTGGTGTATG   BTNRH, unpublished
1555_1556insTTGT  599X(+40AA) 15 GTGGTGTATG
insTTGT
TTGTTATAGG
  (Abdelhak, Kalatzis et al. 1997) 
1555_1557delGTT   15 AGTGGTGTAT
delGTT
GTTATAGGAG
deletion of one V aa MORL
1592delC  605X(+46AA) 15 GAACAAGGAG
delC
AAAAAAGgtg
  (Kumar, Kimberling et al. 1998) 
1598insA   15 AACAAGGAGC
insA
AAAAAAGgtg
  20840
1599+1G>A    15 AGCAAAAAAG
g>a
gtgagcattc
intron aberrant splicing (Rodriguez-Soriano, Vallo et al. 2001) 
1599+1G>T   15 AGCAAAAAAG
g>t
gtgagcattc
  MORL
1599+5G>C    15 AAAAAGgtga
g>c
cattcctaga
intron aberrant splicing (Abdelhak, Kalatzis et al. 1997) 
1617G>A W539X 16 TGCCCTTCTG
G>A
AGGATCTCCA
  MORL
1649T>C L549P 16 CTCATGGCCC
T>C
GCACCATGCC
  (Rickard, Boxer et al. 2000) 
1680A>C  X559Y (+5AA) 16 AGTACCTGTA
A>C
cagcgctcgg
  (Rickard, Boxer et al. 2000)

*Conventional mutation nomenclature according to Antonarakis, 1998 and den Dunnen and Antonarakis, 2000 used.