. 2012 May 29;7:31. doi: 10.1186/1750-1172-7-31

Table 5.

Overview on 64MCCC1mutant alleles and their consequences

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exon 3	c.227_228delTG	p.V76Gfs*4	frameshift	unpublished^a
exon 3	c.251_252delGA^b	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.S164Rfs3**	splice, exon 6 skipping	#54/ This study
exon 7	c.640_641delGG	p.G214Nfs*5^c	deletion/frameshift	#43a, 43b/ Dantas et al. 2005
exon 7	c.658_662delTCAGA	*p.S220Tfs15**	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.P292Gfs18 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.V398Gfs19**	deletion/frameshift	#113/ This study
exon 11	c.1225C>T	p.R409*	nonsense	Stadler et al. 2006
exon 11	c.1264_1265insG^d	p.Q422Rfs*10^d	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.1526delG^e	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.S607Ifs5**	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.A670Dfs34**	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.H708Qfs8**	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/))