Table 5.
Exon/Intron | Nucleotide change at cDNA level | Amino acid change (at RNA level) | Consequence | Patients, in whom this mutation was found in this study/ Reference of first description of the mutation |
---|---|---|---|---|
exon 1 |
c.43GC>T |
p.E15* |
nonsense |
Morscher et al. 2012 |
intron 1 |
c.89+2_89+34del |
p.? |
splice |
Morscher et al. 2012 |
intron 2 |
c.137-2A>G |
p.? |
splice |
Stadler et al. 2006 |
exon 3 |
c.137G>A |
p.G46E |
missense |
Nguyen et al. 2011 |
exon 3 |
c.168C>G |
p.N56K |
missense |
Morscher et al. 2012 |
exon 3 |
c.193A>T |
p.M65L |
missense |
#113/ This study |
exon 3 |
c.227_228delTG |
p.V76Gfs*4 |
frameshift |
unpublisheda |
exon 3 |
c.251_252delGAb |
p.R84Kfs*10 |
deletion/frameshift |
Stadler et al. 2006 |
exon 4 |
c.369G>C |
p.Q123H |
missense |
Stadler et al. 2006 |
exon 5 |
c.375C>G |
p.I125M |
missense |
Stadler et al. 2006 |
exon 5 |
c.400G>A |
p.E134K |
missense |
#32/ Dantas et al. 2005 |
exon 5 |
c.479T>G |
p.M160R |
missense |
Stadler et al. 2006 |
exon 6 |
c.539G>T |
p.G180V |
missense |
#83/ This study |
exon 6 |
c.558delA |
p.Q186Hfs*6 |
deletion/frameshift |
#83, 93a/ Morscher et al. 2012 |
exon 6 |
c.559T>C |
p.S187P |
missense |
#20, Dantas et al. 2005 |
intron 6 |
c.639+2T>A |
p.S164Rfs*3 |
splice, exon 6 skipping |
#54/ This study |
exon 7 |
c.640_641delGG |
p.G214Nfs*5c |
deletion/frameshift |
#43a, 43b/ Dantas et al. 2005 |
exon 7 |
c.658_662delTCAGA |
p.S220Tfs*15 |
deletion/frameshift |
#112/ This study |
exon 7 |
c.694C>T |
p.R232W |
missense |
#41/ Dantas et al. 2005 |
intron 7 |
c.762-1G>A |
p. ? |
splice |
Nguyen et al. 2011 |
exon 8 |
c.803C>A |
p.A268D |
missense |
#115/ This study |
exon 8 |
c.841C>T |
p.R281* |
nonsense |
Morscher et al. 2012 |
exon 8 |
c.842G>A |
p.R281Q |
missense |
Morscher et al. 2012 |
exon 8 |
c.863A>G |
p.E288G |
missense |
#57/ This study |
exon 8 |
c.866C>T |
p.A289V |
missense |
Baumgartner et al. 2001 |
exon 8 |
c.872C>T |
p.A291V |
missense |
#25/ Dantas et al. 2005 |
intron 8 + exon 9 |
c.873+4524_6787del2264 |
2 transkripts: p.P292Gfs*18 p.P292_R361del |
large deletion, exon 9 and exon 9 and 10 skipping |
#62, 96a, 96c/ Eminoglu et al. 2009 |
exon 9 |
c.901_902delAA |
p.K301Afs*10 |
deletion/ frameshift |
Uematsu et al. 2007 |
exon 9 |
c.945T>A |
p.Y315* |
nonsense |
Stadler et al. 2006 |
exon 10 |
c.974T>G |
p.M325R |
missense |
Gallardo et al. 2001 |
exon 10 |
c.980C>G |
p.S327* |
nonsense |
#54/ Morscher et al. 2012 |
exon 10 |
not published |
p.Q372P |
missense |
Desviat et al. 2003 |
exon 11 |
c.1114C>T |
p.Q372* |
nonsense |
#50/ This study |
exon 11 |
c.1135G>A |
p.G379S |
missense |
Stadler et al. 2006 |
exon 11 |
c.1136G>A |
p.G379D |
missense |
#71/ This study |
exon 11 |
c.1139A>C |
p.H380P |
missense |
Morscher et al. 2012 |
exon 11 |
c.1155A>C |
p.R385S |
missense |
#20, 27, 28, 31, 53, 68, 105, 115, 138/ Baumgartner et al. 2001, Gallardo et al. 2001 |
exon 11 |
c.1193_1194delTG |
p.V398Gfs*19 |
deletion/frameshift |
#113/ This study |
exon 11 |
c.1225C>T |
p.R409* |
nonsense |
Stadler et al. 2006 |
exon 11 |
c.1264_1265insGd |
p.Q422Rfs*10d |
insertion/frameshift |
Baumgartner et al. 2001 |
intron 11 |
c.1268-2A>G |
p.G423Efs*15 |
splice, exon 12/13 skipping |
Stadler et al. 2006 |
exon 12 |
c.1302T>G |
p.I434M |
missense |
#74/ This study |
exon 12 |
c.1310T>C |
p.L437P |
missense |
Baumgartner et al. 2001 |
exon 12 |
c.1315G>A |
p.V439M |
missense |
#53/ This study |
exon 12 |
c.1333C>T |
p.Q445* |
nonsense |
Morscher et al. 2011 |
exon13 |
c.1380T>G |
p.I460M |
missense |
Uematsu et al. 2007 |
exon 13 |
c.1522_1544del |
p.L508Hfs*17 |
deletion |
Morscher et al. 2012 |
exon 13 |
c.1526delGe |
p.C509Sfs*14 |
deletion/frameshift |
#46, 59, 73c, 87/ Dantas et al. 2005 |
exon 13 |
c.1527C>A |
p.C509* |
nonsense |
#36/ Dantas et al. 2005 |
exon 13 |
c.1541dupG |
p.L515Sfs*18 |
insertion/frameshift |
Morscher et al. 2012 |
exon 13 |
c.1594G>C |
p.D532H |
splice |
Baumgartner et al. 2001 |
intron 13 |
c.1594+3A>G |
p.V461Nfs*13 |
splice, exon 13 skipping |
Morscher et al. 2012 |
exon 14 |
c.1604C>T |
p.S535F |
missense |
Holzinger et al. 2001 |
intron 14 |
c.1681+5G>A |
p.Q533_N561del |
splice, exon 14 skipping |
Stadler et al. 2006 |
intron 14 |
c.1682-3A>G |
p.N561Kfs*10 |
splice/frameshift |
Dantas et al. 2005 |
exon 15 |
c.1695_1700del |
p.V566_T567del |
deletion |
Morscher et al. 2012 |
exon 16 |
c.1750C>T |
p.Q584* |
nonsense |
Uematsu et al. 2007 |
exon 16 |
c.1820delG |
p.S607Ifs*5 |
deletion/frameshift |
#103/ This study |
exon 17 |
c.1882G>T |
p.E628* |
nonsense |
#50/ This study |
exon 17 |
c.1930G>T |
p.E644* |
nonsense |
#43a, 43b/ Dantas et al. 2005 |
exon 18 |
c.2009_2043del35 |
p.A670Dfs*34 |
deletion/frameshift |
#138/ This study |
exon 19 |
c.2079delA |
p.V694* |
nonsense |
#60, 70a/ Holzinger et al. 2001 |
exon 19 |
c.2088dupA |
p.V697Sfs*19 |
insertion/frameshift |
#46/ Dantas et al. 2005 |
exon 19 | c.2123dupA | p.H708Qfs*8 | insertion/frameshift | #74/ This study |
a Found in our laboratory in a heterozygous individual, not yet published.b Published in the original paper as c.250_251delAG (p.R84Kfs*9), however AG is not found at this position in the reference sequence, but GA instead.c Published in the original paper as p.G214IfsX5, nomenclature has been adapted to new approved guidelines.d Published in the original paper as c.1264insG, Q421fs(+1), nomenclature has been adapted to new approved guidelines.e Mainly found in patients from the Faroe Islands.
(NG_008100.1 [GenBank at the NCBI] was used as reference sequence. Consensus nomenclature according to approved guidelines ( http://www.hgvs.org/mutnomen/))