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NBCCS mutations found in our laboratoty
Location Type of mutation Nucleotide change Amino acid change Reference Note
Exon 2   frameshift  c.254_255delGA  p.R85Tfs*4    
Exon 2 frameshift c.272delG p.G91Vfs*26
Exon 2 frameshift c.279delC p.Y93*
Exon 2 frameshift c.290dupA p.Asn97Lysfs*43 Fam cancer 11, 565-570.
 Exon 2  frameshift  c.290delA p.N97Tfs*20     
Exon 2 missense c.328G>C p.G110R
Exon 2 frameshift c.335delT p.F112Sfs*5
Exon 2 nonsense c.386G>A p.W129* Hum Genet 122, 459-466.
Exon 2 nonsense c.387G>A p.W129* Am J Med Genet A 121A, 65-68.
Exon 3 nonsense c.403C>T, p.R135X p.R135* 2 Patients in one family
Exon 3 nonsense c.415G>T p.E139*
Exon 3 frameshift c.459delT p.F153Lfs*6
Exon 3   nonsense c.478C>T  p.Q160*     
Exon 3 frameshift c.479_482delAGAC p.Q160Pfs*10
 Exon 3  frameshift  c.513dupC  p.T172Hfs*80    
Exon 3 nonsense c.550C>T p.Q184*
Exon 3 splicing c.584G>A Acta Derm Venereol 92, 619-620. J Hum Genet 52, 891-897. Hum Mol Genet 14, 3379-3388.
Exon 3  frameshif   c.684_685insG p.I229Dfs*23     
Intron 4   splicing c.654+3A>G       
 Exon 5  frameshif  c.684_685insG   p.I229Dfs*23     
Exon 5 frameshift c.714_715delGG p.A239Efs*12 2 Patients in one family
Intron 5 splicing   c.747-2A>G      
Exon 6 frameshift c.749delG p.G250Vfs*19
Exon 6 frameshif   c.898delG p.A300Pfs*24    
Exon 6 frameshift c.915delC p.A306Pfs18* Jpn J Cancer Res 90, 1351-1357. Hum Mutat 21, 451-452. 5 Patients in 2 families
Exon 6 splicing c.945+5G>T Hum Mutat 21, 451-452.Hum Mol Genet 14, 3379-3388.
 Exon 7 frameshift  c.964_967delGTTT  p.V322*     
 Exon 7 nonsense   c.989T>A  p.L330*    
Intron 7 splicing c.1067+1G>C
 Exon 8  nonsense  c.1093C>T  p.Q365*    
 Exon 8  nonsense  c.1111C>T p.Q371*   Hum. Genome Var. 6:16  
Exon 9 frameshift c.1221delT p.H408Ifs*24
Exon 9 frameshift c.1223_1226dupATCA p.V411Efs*27 2 Patients in one family
Exon 9 frameshift c.1261_1262insT p.S421Ffs*16 J Hum Genet 52, 891-897. Hum Mutat 21, 451-452.
 Exon 9  frameshift  c.1341dupA  p.L448Tfs*49    
Exon 9 missense c.1346T>G p.M449R
 Intron 9  splicing  c.1348-9T>A      
 Exon 10  frameshift c.1364dupT  p.T456Nfs*41    
Exon 10 frameshift c.1416_1419dupTGGC p.V474Wfs*24 Pediatr Neurol 37, 363-365.
Exon 10 frameshift c.1472delT p.I491Tfs*71 Oral Surg Oral Med Oral Pathol Oral Radiol Endod 110, e41-46.
Exon 11 missense c.1526G>A p.G509D Hum Mutat 21, 451-452. Hum Mol Genet 14, 3379-3388.
Exon 11 in-frame c.1540_1542delGAT p.D514del
Exon 12 frameshift   c.1642delG  p.V548Wfs*17    
Exon 12 missense c.1665T>A p.N555K
Intron 12 splicing c.1729-1G>C 2 Patients in one family
Exon 13 frameshift c.1787dupT p.S597Qfs*30
 Exon 13  nonsense  c.1804C>T p.R602*   3 Patients in one family 
Intron 13 splicing c.1847+1G>A
Exon 14 frameshift c.2011delC p.H671Tfs*31 Jpn J Cancer Res 90, 1351-1357. Hum Mutat 21, 451-452.
Exon 14 frameshift c.2197_2198delTC p.S733Ifs*4 3 Patients in 2 families
Exon 14 nonsense c.2198C>A p.S733*
Intron 14 splicing c.2250+2T>A
Exon 15 nonsense c.2308C>T p.R770* 3 Patients in 2 families
Exon 15 nonsense c.2446C>T p.Q816*
Exon 15  frameshift  c.2477delT   p.F826Sfs*4   2 Patients in one family 
Exon 15 frameshift c.2497delA p.M833Cfs*70
 Exon 15  frameshift c.2544delC p.F848Lfs*55     
Exon 15 frameshift c.2549dupA p.D850Efs*11 Neurol Clin Neurosci 1. 88-89
Exon 16  frameshift   c.2572_2579delinsTTCC p.A858Ffs*44     
Exon 16  frameshift   c.2613delC  p.N871Kfs*32    
Exon 16 frameshift  c.2668delA p.T890Pfs*13    2 Patients in one family 
Exon 16  missense c.2692G>A p.D898N    
Exon 17 frameshift c.2724_2725insT p.D909*
Exon 18 frameshift c.3077delA p.H1026Pfs*23
Exon 18 frameshift c.3130_3131dupGC p.V1045Lfs*5 2 Patients in one family
Intron 18   splicing c.3168+5G>C  c.R995_V1057del    2 Patients in one family
Exon 19 frameshift c.3203_3204insT p.G1069Rfs*105
Exon 19 frameshift c.3209_3217delTGATGGGCCinsA p.M1070Nfs*72
Exon 19 frameshift c.3218_3240del23 p.L1073Rfs*64
Exon 19  in-frame c.3243_3245dupGCC  p.P1082dup     
Exon 19   frameshift c.3246delC p.V1083Wfs*4     
Exon 19 missense c.3257T>G p.L1086R
Exon 20 frameshift c.3325_3328dupGGCG p.D1110Gfs*45
Exon 20 frameshift c.3364_3365delAT p.M1122Vfs*31
Exon 20 missense c.3394T>C p.S1132P
Intron 20 splicing c.3449+1G>A
Exon 21 frameshift c.3484delC p.L1162Sfs*29 3 Patients in one family
Exon 21 frameshift c.3527_3528delCT p.S1176Ffs*7
Exon 1-23 Large deletion g.90617332_101647101del11029770insGACAGAA Clin Genet 79, 196-198. Hum Genet 122, 459-466.
Exon 1-23 Large deletion g.94898311_100101915del5203605 Clin Genet 79, 196-198. Hum Genet 122, 459-466.
Exon 1-23 Large deletion  g.95880121_98238462del2358342    Clin Genet 79, 196-198.  
Exon 1-23 Large deletion g.96766985_97885391del1118407 Clin Genet 79, 196-198. 2 Patients in one family
Exon 1-23 Large deletion g.96521545_97592233del1070689      
Exon 1-23 Large deletion  g.97017231_97914172del896942     2 Patients in one family
Exon 1-23 Large deletion g.97187146_97350058del162913 Clin Genet 79, 196-198. Hum Genet 122, 459-466. 2 Patients in one family
Exon 1-23 Large deletion g.95946863_99986314del4039452     2 Patients in one family 
Exon 11-17 Large duplication g97260914_97279684dup18771 Am J Med Genet A 158A, 1724-1728.
Exon4 nonsense c.550C>T (SUFU) p.Q184* (SUFU) Fam Cancer 11, 565-570, Hum Genet 122, 459-466.
Exon 9 frameshift c.1172-1173delCT(PTCH2) p.S391*(PTCH2) Fam Cancer 12, 611-614,

Coding sequence (c.) of PTCH1 is based on U59464.
Genomic sequence (g.) is based on UCSC Genome Browser on Human March 2006 Assembly (hg18).


Copyright © 2008 T. Miyashita All Rights Reserved.
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