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     EYA1 Mutations

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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348delA T116fs 4 AGTTTACCAC delA GGAATGCAAC   BTNRH, unpublished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  BTNRH, unpublished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T G202X 6 AAATTCCTCT G/T GATTTAATAG   MORL, BTNRH, unpublished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T Q207X 6 TAATAGTTCA C/T AGCAGgtaat   BTNRH, unpublished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IVS06+2delT   IVS6 TCACAGCAGg delt aatttaaaaa splicing error BTNRH, unpublished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A   IVS6 attcttgtgt G/A gtttgatttg splicing error BTNRH, unpublished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  R289X 8 AGATTCTGAT
C>T
GATTGCGTCG
  (Kumar, Kimberling et al. 1998) 
874C>T R292X 8 TCGATTGCGT
C>T
GAGGTTCAGA
  (Rickard, Boxer et al. 2000; Fukuda, Kuroda et al. 2001) 
905delG G302fs 8 CGTGGACGGG delG CCGAAGAAAC   BTNRH, unpublished
907C>T  R303X 8 TGGACGGGGC
C>T
GAAGAAACAA
  (Abdelhak, Kalatzis et al. 1997) 
952-1G>A    Intron 8 ttcctttgta
g>a
AGAGTGTTCA
loss of acceptor site (Rickard, Boxer et al. 2000) 
957_958insTG    9 gtagAGAGTG
insTG
TTCATCTGGG
BO syndrome (Vincent, Kalatzis et al. 1997) 
962T>A I321N 9 AGAGTGTTCA
T>A
CTGGGACTTG
  MORL
968_969insATCTGGGA    9 TCATCTGGGA
insATCTGGGA
CTTGGATGAG
  MORL
1001delinsAG    9 TTCCACTCCT
insAG
TGCTTACTGG
  (Vervoort, Smith et al. 2002) 
1013delC   9 CTTACTGGGT
delC
CTACGCCAAC
  MORL
1033_1035+1delAGGG   IVS9 CAGATATGGG
delAGGg
tgagtaccaa
loss of donor site MORL
1035+1G>C   IVS9 ATATGGGAGG
g>c
tgagtaccaa
splicing error Henriksen et al., Genetic testing (2004) 8, 404-406
1035+1G>T   IVS9 ATATGGGAGG
g>t
tgagtaccaa
  MORL
IVS9del    IVS9   del 5.6 kb (Abdelhak, Kalatzis et al. 1997) 
N/A         BTNRH, unpublished
N/A         BTNRH, unpublished
N/A         Okada et al., Pediatr Nephrol (2006) [Epub ahead of print]
N/A         Okada et al., Pediatr Nephrol (2006) [Epub ahead of print]
N/A         BTNRH, unpublished
N/A         (Abdelhak, Kalatzis et al. 1997) 
N/A         BTNRH, unpublished
N/A         Migliosi, V.Clinical Gen;(2004) 66(5); 478-480
N/A         BTNRH, unpublished
N/A         (Rickard, Boxer et al. 2000) 
1036-13_1045 inv    intron 9   loss of acceptor site (Rickard, Boxer et al. 2000) 
1036-1G>A   intron 9 ttgcatttta
g>a
GAATGTGACC
loss of acceptor site MORL
1051delC H351fs 10 GTGACCAAGT
delC
CATATAGATG
stop 354 MORL
IVS10_15del   10-15   del20-37kb  (Abdelhak, Kalatzis et al. 1997) 
EX10_EX14del   10-14   del 5.8-7 kb (Abdelhak, Kalatzis et al. 1997)
1095-2A>G   11 gcatataaat
a>g
gCACATATAA
splicing error MORL
 1101T>A  Y367X 11 atagCACATA
T>A
AACTTTGGAA
  Okada et al., Pediatr Nephrol (2006) [Epub ahead of print]
1171G>A G391S 11 TGGTGTACGG
G>A
GCGGTGTGGA
BOR + cataracts (Azuma, Hirakiyama et al. 2000)
1181A>G D394G 11 GGCGGTGTGG
A>G
CTGGATGAGA
  Namba et al.,  J Hum Genet (2001) 46, 518 
1214G>A  R405Q 11 CGCTACAGAC
G>A
GGTAAAAGAG
  (Kumar, Deffenbacher et al. 1997)
1245T>CC    11 CCTACAAAAA
T>CC
AATGTTGGAG
  (Abdelhak, Kalatzis et al. 1997)
1255G>C G419R 11 ATAATGTTGGA
G>C
gcaagtgatt
  Migliosi, V.Clinical Gen;(2004) 66(5); 478-480
1273A>T K425X 12 TGGTCCAGCT
A>T
AGAGGGAAGC
  MORL
1300delG R433fs 12 GCAGTTGAGG delG GCCGAAATTGA   BTNRH, unpublished
1353_1354insC    12 GAAAGCACTC
insC
TCGCTCATTC
  (Abdelhak, Kalatzis et al. 1997) 
1354T>C  S452P 12 GAAAGCACTC
T>C
CGCTCATTCA
  (Abdelhak, Kalatzis et al. 1997; Kumar, Deffenbacher et al. 1997) 
1355C>T S452L 12 AAAGCACTCT
C>T
GCTCATTCAC
  MORL
1366delinsAGAGC    12 GCTCATTCAC
T>AGAGC
CCCGgtgagg
  (Abdelhak, Kalatzis et al. 1997) 
1370G>C R457P 12 ATTCACTCCC
G>C
gtgaggctct
missense, splicing error BTNRH, unpublished
1370insC R457P 12 ATTCACTCCC
insC
Ggtgaggctc
leads to X 40aa after fs Kim, Intern. J. of Ped Oto; (2005) 69, 1123-1128
IVS15-2A>G   IVS12 ttgttctcat A/G gGACAAACTG splicing error BTNRH, unpublished
1382_1383delTG    13 ACAAACTGTG
delTG
AATATTTTAG
  MORL
1391delT   13 GTGAATATTT
delT
AGTAACAACT
  MORL
1396_1402delACAACTA   13 TATTTTAGTA
delACAACTA
CTCAGCTCAT
  Shimasaki et al., Pediatr Cardiol (2004) 25:411–413, 
1405C>T Q469X 13 AACAACTACT
C>T
AGCTCATCCC
  MORL
1409T>G  L470R 13 ACTACTCAGC
T>G
CATCCCAGCA
  (Abdelhak, Kalatzis et al. 1997) 
1429G>T V477F 13 ATTGGCGAAA
G>T
TCCTGCTGTA
conseq 9 MORL
1433T>C L478P 13 GCGAAAGTCC T/C GCTGTATGGG   BTNRH, unpublished
1450-1451insA   13 GGGTTAGGAA
insA
TTGTATTTCC
stop 497 Migliosi, V.Clinical Gen;(2004) 66(5); 478-480
1474T>A Y492N 13 AGAAAATATT T/A ACAGTGCAAC   BTNRH, unpublished
1475A>G Y492C 13 GAAAATATTT A/G CAGTGCAACT   BTNRH, unpublished
1492+2T>G    13 CTAAAATAGg
t>g
gagctgcttt
intron aberrant splicing (Abdelhak, Kalatzis et al. 1997) 
1493-1G>A   Intron 13 ttgttcacta
g>a
GAAAAGAAAG
splicing error Okada et al., Pediatr Nephrol (2006) [Epub ahead of print]
1495_1498delAAAG   14 ttcactagGA
delAAAG
AAAGCTGTTTT
  (Kumar, Kimberling et al. 1998) 
1498_1502delGAAAG   14 actagGAAAA
delGAAAG
CTGTTTTGAG
  MORL
1499_1502delAAAG S501fs 14 ctagGAAAAG delAAAG CTGTTTTGAG   BTNRH, unpublished
1509_1510insGTTT    14 AAGCTGTTTT
insGTTT
GAGAGAATAA
  MORL
1539delA K513fs 14 TTGGAAGAAA delA GTGGTGTATG   BTNRH, unpublished
1549_1550insTTGT  597X(+40AA) 14 GTGGTGTATG
insTTGT
TTGTTATAGG
  (Abdelhak, Kalatzis et al. 1997) 
1549_1551delGTT   14 AGTGGTGTAT
delGTT
GTTATAGGAG
deletion of one V aa MORL
1586delC  603X(+46AA) 14 GAACAAGGAG
delC
AAAAAAGgtg
  (Kumar, Kimberling et al. 1998) 
1592insA   14 AACAAGGAGC
insA
AAAAAAGgtg
  MORL
1593+1G>A    14 AGCAAAAAAG
g>a
gtgagcattc
intron aberrant splicing (Rodriguez-Soriano, Vallo et al. 2001) 
1593+1G>T   14 AGCAAAAAAG
g>t
gtgagcattc
  MORL
1593+5G>C    14 AAAAAGgtga
g>c
cattcctaga
intron aberrant splicing (Abdelhak, Kalatzis et al. 1997) 
1611G>A W537X 15 TGCCCTTCTG
G>A
AGGATCTCCA
  MORL
1643T>C L547P 15 CTCATGGCCC
T>C
GCACCATGCC
  (Rickard, Boxer et al. 2000) 
1674A>C  X557Y (+5AA) 15 AGTACCTGTA
A>C
cagcgctcgg
  (Rickard, Boxer et al. 2000)

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