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     EYA1 Mutations

        Isoform A

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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348delA T116fs 4 AGTTTACCAC delA GGAATGCAAC   BTNRH, unpublished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  BTNRH, unpublished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T G207X 6 AAATTCCTCT G/T GATTTAATAG   MORL, BTNRH, unpublished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T Q212X 6 TAATAGTTCA C/T AGCAGgtaat   BTNRH, unpublished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IVS06+2delT   IVS6 TCACAGCAGg delt aatttaaaaa splicing error BTNRH, unpublished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A   IVS6 attcttgtgt G/A gtttgatttg splicing error BTNRH, unpublished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
  (Kumar, Kimberling et al. 1998) 
889C>T R297X 8 TCGATTGCGT
C>T
GAGGTTCAGA
  (Rickard, Boxer et al. 2000; Fukuda, Kuroda et al. 2001) 
920delG G307fs 8 CGTGGACGGG delG CCGAAGAAAC   BTNRH, unpublished
922C>T  R808X 8 TGGACGGGGC
C>T
GAAGAAACAA
  (Abdelhak, Kalatzis et al. 1997) 
967-1G>A    Intron 8 ttcctttgta
g>a
AGAGTGTTCA
loss of acceptor site (Rickard, Boxer et al. 2000) 
972_973insTG    9 gtagAGAGTG
insTG
TTCATCTGGG
BO syndrome (Vincent, Kalatzis et al. 1997) 
977T>A I326N 9 AGAGTGTTCA
T>A
CTGGGACTTG
  MORL
983_985insATCTGGGA  N368X 9 TCATCTGGGA
insATCTGGGA
CTTGGATGAG
  MORL
1016delinsAG  L339X 9 TTCCACTCCT
insAG
TGCTTACTGG
  (Vervoort, Smith et al. 2002) 
1028delC   9 CTTACTGGGT
delC
CTACGCCAAC
  MORL
1048_1050+1delAGGG   IVS9 CAGATATGGG
delAGGg
tgagtaccaa
loss of donor site MORL
1050+1G>C   IVS9 ATATGGGAGG
g>c
tgagtaccaa
splicing error Henriksen et al., Genetic testing (2004) 8, 404-406
1050+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
1051-2A>G   IVS9 ttcttatttt
a>g
gGATCCACCC
splicing error Okada et al., Pediatr Nephrol (2006) [Epub ahead of print]
1051G>T D351Y 10 cttattttag
G>T
ATCCACCCAC
splicing error Okada et al., Pediatr Nephrol (2006) [Epub ahead of print]
1081C>T R361X 10 CCTTGGACTG C/T GAATGGAAGA   BTNRH, unpublished
ins Alu    10   aberrant splicing (Abdelhak, Kalatzis et al. 1997) 
1118_1119delAT H373fs 10 GCAGACACAC delAT TTATTTTTTA   BTNRH, unpublished
1123_1126delTTTT   0 CACACATTTA
delTTTT
TTAATGACTT
stop 346 Migliosi, V.Clinical Gen;(2004) 66(5); 478-480
1138-1140GAA>CTT E380L; IVS10+1G>C 10, IVS10 TAATGACTTA GAAG>CTTC taagttctaa missense, splicing error BTNRH, unpublished
1140+1G>T    Intron 10 TGACTTAGAA
g>t
taagttctaa
loss of donor site (Rickard, Boxer et al. 2000) 
1141-13_1150 inv    Intron 10   loss of acceptor site (Rickard, Boxer et al. 2000) 
1141-1G>A   Intron 10 ttgcatttta
g>a
GAATGTGACC
loss of acceptor site MORL
1156delC H386fs 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)
1200-2A>G   12 gcatataaat
a>g
gCACATATAA
splicing error MORL
 1206T>A  Y402X 12 atagCACATA
T>A
AACTTTGGAA
  Okada et al., Pediatr Nephrol (2006) [Epub ahead of print]
1276G>A G426S 12 TGGTGTACGG
G>A
GCGGTGTGGA
BOR + cataracts (Azuma, Hirakiyama et al. 2000)
1286A>G D429G 12 GGCGGTGTGG
A>G
CTGGATGAGA
  Namba et al.,  J Hum Genet (2001) 46, 518 
1319G>A  R440Q 12 CGCTACAGAC
G>A
GGTAAAAGAG
  (Kumar, Deffenbacher et al. 1997)
1350T>CC    12 CCTACAAAAA
T>CC
AATGTTGGAG
  (Abdelhak, Kalatzis et al. 1997)
1360G>C G454R 0 ATAATGTTGGA
G>C
gcaagtgatt
  Migliosi, V.Clinical Gen;(2004) 66(5); 478-480
1378A>T K460X 13 TGGTCCAGCT
A>T
AGAGGGAAGC
  MORL
1405delG R468fs 13 GCAGTTGAGG delG GCCGAAATTGA   BTNRH, unpublished
1458_1459insC    13 GAAAGCACTC
insC
TCGCTCATTC
  (Abdelhak, Kalatzis et al. 1997) 
1459T>C  S487P 13 GAAAGCACTC
T>C
CGCTCATTCA
  (Abdelhak, Kalatzis et al. 1997; Kumar, Deffenbacher et al. 1997) 
1460C>T S487L 13 AAAGCACTCT
C>T
GCTCATTCAC
  MORL
1471delinsAGAGC    13 GCTCATTCAC
T>AGAGC
CCCGgtgagg
  (Abdelhak, Kalatzis et al. 1997) 
1475G>C R492P 13 ATTCACTCCC
G>C
gtgaggctct
missense, splicing error BTNRH, unpublished
1475insC R492P 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
1487_1488delTG    14 ACAAACTGTG
delTG
AATATTTTAG
  MORL
1496delT   14 GTGAATATTT
delT
AGTAACAACT
  MORL
1501_1507delACAACTA   14 TATTTTAGTA
delACAACTA
CTCAGCTCAT
  Shimasaki et al., Pediatr Cardiol (2004) 25:411–413, 
1510C>T Q504X 14 AACAACTACT
C>T
AGCTCATCCC
  MORL
1514T>G  L505R 14 ACTACTCAGC
T>G
CATCCCAGCA
  (Abdelhak, Kalatzis et al. 1997) 
1534G>T V512F 14 ATTGGCGAAA
G>T
TCCTGCTGTA
conseq 9 MORL
1538T>C L513P 14 GCGAAAGTCC T/C GCTGTATGGG   BTNRH, unpublished
1555-1556insA   14 GGGTTAGGAA
insA
TTGTATTTCC
stop 497 Migliosi, V.Clinical Gen;(2004) 66(5); 478-480
1579T>A Y527N 14 AGAAAATATT T/A ACAGTGCAAC   BTNRH, unpublished
1580A>G Y527C 14 GAAAATATTT A/G CAGTGCAACT   BTNRH, unpublished
1597+2T>G    14 CTAAAATAGg
t>g
gagctgcttt
intron aberrant splicing (Abdelhak, Kalatzis et al. 1997) 
1598-1G>A   Intron 14 ttgttcacta
g>a
GAAAAGAAAG
splicing error Okada et al., Pediatr Nephrol (2006) [Epub ahead of print]
1600_1603delAAAG   15 ttcactagGA
delAAAG
AAAGCTGTTTT
  (Kumar, Kimberling et al. 1998) 
1603_1607delGAAAG   15 actagGAAAA
delGAAAG
CTGTTTTGAG
  MORL
1604_1607delAAAG S536fs 15 ctagGAAAAG delAAAG CTGTTTTGAG   BTNRH, unpublished
1614_1615insGTTT    15 AAGCTGTTTT
insGTTT
GAGAGAATAA
  MORL
1644delA K548fs 15 TTGGAAGAAA delA GTGGTGTATG   BTNRH, unpublished
1654_1655insTTGT    15 GTGGTGTATG
insTTGT
TTGTTATAGG
  (Abdelhak, Kalatzis et al. 1997) 
1654_1656delGTT   15 AGTGGTGTAT
delGTT
GTTATAGGAG
deletion of one V aa MORL
1691delC    15 GAACAAGGAG
delC
AAAAAAGgtg
  (Kumar, Kimberling et al. 1998) 
1697insA   15 AACAAGGAGC
insA
AAAAAAGgtg
  MORL
1698+1G>A    15 AGCAAAAAAG
g>a
gtgagcattc
intron aberrant splicing (Rodriguez-Soriano, Vallo et al. 2001) 
1698+1G>T   15 AGCAAAAAAG
g>t
gtgagcattc
  MORL
1698+5G>C    15 AAAAAGgtga
g>c
cattcctaga
intron aberrant splicing (Abdelhak, Kalatzis et al. 1997) 
1716G>A W572X 16 TGCCCTTCTG
G>A
AGGATCTCCA
  MORL
1748T>C L582P 16 CTCATGGCCC
T>C
GCACCATGCC
  (Rickard, Boxer et al. 2000) 
1779A>C  X592Y (+5AA) 16 AGTACCTGTA
A>C
cagcgctcgg
  (Rickard, Boxer et al. 2000)