DCLRE1C
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Deletion Genomic: g.19576_26080del
CDS: c.178_557del
AnimoAcid: p.Thr187Aspfs		 Deletion PCR based assay Noordzij JG et al., 2003
2 Substitutions Genomic: g.17549G>T
CDS: c.353G>T
AnimoAcid: p.Gly118Val		 Substitutions PCR based assay Noordzij JG et al., 2003
3 Substitutions Genomic: g.18573G>A
CDS: c.404G>A
AnimoAcid: p.Gly135Glu		 Substitutions PCR based assay Noordzij JG et al., 2003
4 Deletion Genomic: c.162-?_246+?del
CDS:
AnimoAcid: 		Deletion PCR based assay Kobayashi N et al., 2003
5 Insertion Genomic: g.44776_44777insAG
CDS: c.1167_1168insAG
AnimoAcid: p.Asp390ArgfsX5		 Insertion PCR based assay Kobayashi N et al., 2003
6 Substitutions Genomic: g.19635C>A
CDS: c.597C>A
AnimoAcid: p.Tyr199X		 Substitutions PCR based assay Li L et al., 2002
7 Deletion Genomic: c.1_306del
CDS:
AnimoAcid: p.0		 Deletion PCR based assay Moshous D et al., 2001
8 Substitutions Genomic: g.8986C>T
CDS: c.241C>T
AnimoAcid: p.Arg81X		 Substitutions PCR based assay Moshous D et al., 2001
9 Deletion Genomic: c.307_464del
CDS:
AnimoAcid: p.Lys103fs		 Deletion PCR based assay Moshous D et al., 2001
10 Substitutions Genomic: g.27254G>C
CDS: c.972+1G>C
AnimoAcid: p.Thr307fs		 Substitutions PCR based assay Moshous D et al., 2001
11 Substitutions Genomic: g.26081G>A
CDS: c.917+1G>A
AnimoAcid: p.Ala261_Glu324del		 Substitutions PCR based assay Moshous D et al., 2001
12 Substitutions Genomic: g.17559G>T
CDS: c.362+1G>T
AnimoAcid: p.Lys103fs		 Substitutions PCR based assay Moshous D et al., 2001
13 Deletion Genomic: g.21242delG
CDS: c.780delG
AnimoAcid: p.Ala261fs		 Deletion PCR based assay Moshous D et al., 2001
14 Substitutions Genomic: g.21252C>T
CDS: c.780+10C>T
AnimoAcid: p.Ala261fs		 Substitutions PCR based assay Moshous D et al., 2001
15 Deletion Genomic: c.307_678del
CDS:
AnimoAcid: p.Lys103_Gln226del		 Deletion PCR based assay Moshous D et al., 2001
16 Deletion Genomic: c.1_246del
CDS:
AnimoAcid: p.0		 Deletion PCR based assay Moshous D et al., 2003
17 Deletion Genomic: g.44962_44968delTTGTGAA
CDS: c.1353_1359delTTGTGAA
AnimoAcid: p.Asp451fs		 Deletion PCR based assay Moshous D et al., 2003
18 Deletion Genomic: g.44899_44915delACAAACCCCAGGATGCT
CDS: c.1290_1306delACAAACCCCAGGATGCT
AnimoAcid: p.Thr432fs		 Deletion PCR based assay Moshous D et al., 2003
19 Substitutions Genomic: g.87T>C
CDS: c.2T>C
AnimoAcid: p.Met1Thr		 Substitutions Direct sequencing Ege M et al., 2005
20 Substitutions Genomic: g.188C>G
CDS: c.103C>G
AnimoAcid: p.His35Asp		 Substitutions Direct sequencing Ege M et al., 2005
21 Substitutions Genomic: g.18634G>A
CDS: c.464+1G>A
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Rohr J et al., 2010
22 Deletion Genomic: g.(?_48)_8991+?del
CDS: c.(?_-38)_246+?del
AnimoAcid: p.0		 Deletion Direct sequencing, PCR based assay Pannicke U et al., 2010
23 Deletion Genomic: g.(?_48)_14286+?del
CDS: c.(?_-38)_306+?del
AnimoAcid: p.0		 Deletion Direct sequencing, PCR based assay Pannicke U et al., 2010
24 Deletion Genomic: g.18843_19981del1139
CDS: c.464+210_678+265del1139
AnimoAcid: p.Val156PhefsX3		 Deletion Direct sequencing, PCR based assay Pannicke U et al., 2010
25 Deletion Genomic: g.14261delC
CDS: c.281delC
AnimoAcid: p.Ser94PhefsX2		 Deletion Direct sequencing Pannicke U et al., 2010
26 Deletion Genomic: g.31104delA
CDS: c.1050delA
AnimoAcid: p.Val351LeufsX5		 Deletion Direct sequencing, PCR based assay Pannicke U et al., 2010
27 Deletion Genomic: g.34342_34348del7
CDS: c.1140_1146del7
AnimoAcid: p.Val381GlufsX19		 Deletion Direct sequencing, PCR based assay Pannicke U et al., 2010
28 Substitutions Genomic: g.17559G>T
CDS: c.362+1G>T
AnimoAcid: p.Lys103ValfsX7		 Substitutions Direct sequencing, PCR based assay Pannicke U et al., 2010
29 Substitutions Genomic: g.17563G>C
CDS: c.362+5G>C
AnimoAcid: p.Lys103ValfsX7		 Substitutions Direct sequencing, PCR based assay Pannicke U et al., 2010
30 Substitutions Genomic: g.167G>C
CDS: c.82G>C
AnimoAcid: p.Ala28Pro		 Substitutions Direct sequencing, PCR based assay Pannicke U et al., 2010
31 Substitutions Genomic: g.17549G>T
CDS: c.353G>T
AnimoAcid: p.Gly118Val		 Substitutions Direct sequencing, PCR based assay Pannicke U et al., 2010
32 Substitutions Genomic: g.19350A>T
CDS: c.494A>T
AnimoAcid: p.Asp165Val		 Substitutions Direct sequencing, PCR based assay Pannicke U et al., 2010
33 Substitutions Genomic: g.21144C>A
CDS: c.682C>A
AnimoAcid: p.His228Asn		 Substitutions Direct sequencing, PCR based assay Pannicke U et al., 2010
34 Substitutions Genomic: g.34349C>T
CDS: c.1147C>T
AnimoAcid: p.Arg383X		 Substitutions Direct sequencing, PCR based assay Pannicke U et al., 2010
35 Substitutions Genomic: g.18573G>A
CDS: c.404G>A
AnimoAcid: p.Gly135Glu		 Substitutions NA Darroudi F et al., 2007
36 Deletion Genomic: g.(?_86)_194+?del
CDS: c.(?_1)_109+?del
AnimoAcid: p.0		 Deletion NA Darroudi F et al., 2007
37 Deletion Genomic: g.(?_25944)_31115+?del
CDS: c.(?_781)_1061+?del
AnimoAcid: p.Leu355fsX16		 Deletion NA Darroudi F et al., 2007
38 Deletion Genomic: g.14287delG
CDS: c.306+1delG
AnimoAcid: p.Lys103ValfsX7		 Deletion Direct sequencing de Villartay JP et al., 2009
39 Substitutions Genomic: g.21223A>T
CDS: c.761A>T
AnimoAcid: p.His254Leu		 Substitutions Direct sequencing de Villartay JP et al., 2009
40 Deletion Genomic: g.8953_8955delTTA
CDS: c.208_210delTTA
AnimoAcid: p.Leu70del		 Deletion Direct sequencing, PCR based assay Evans PM et al., 2006
41 Substitutions Genomic: g.18546G>A
CDS: c.377G>A
AnimoAcid: p.Gly126Asp		 Substitutions Direct sequencing, PCR based assay Evans PM et al., 2006
42 Deletion Genomic: g.(?_8907)_8991+?del
CDS: c.(?_162)_246+?del
AnimoAcid: p.Ser54ArgfsX14		 Deletion Direct sequencing, PCR based assay Kobayashi N et al., 2003
43 Substitutions Genomic: g.18634G>A
CDS: c.464+1G>A
AnimoAcid: p.[Met121_Arg155delinsIle; Arg155_Val156insTyrTrpGlySerTyrArg]		 Substitutions Direct sequencing, PCR based assay Ijspeert H et al., 2011
44 Substitutions Genomic: g.28255G>C
CDS: c.972+1997G>C
AnimoAcid: p.Glu324ins61X		 Substitutions Direct sequencing, PCR based assay Ijspeert H et al., 2011
45 Deletion Genomic: g.(?_1)_(8991_?)del
CDS: c.(?_-85)_(246_?)del
AnimoAcid: 		Deletion Direct sequencing Heimall J et al., 2012
46 Deletion Genomic: g.(?_1)_(194_?)del
CDS: c.(?_-85)_(109_?)del
AnimoAcid: 		Deletion Direct sequencing Heimall J et al., 2012