Other mutations

The following table provides an overview of currently known miscellaneous mutations.

NameCaseMutation categoryMutation ResultSource
NSHRHUnknown regulatoryunknown regulatory elementreduced mRNA(Dawson et al., 2005)
P1, Case 24-19HNDUnknown regulatoryunknown regulatory elementreduced mRNA(Garcia et al., 2008; Jinnah et al., 2010)
P2 (case 12-8), P3 (case 10-8), P4 (case 8-8)HNDUnknown regulatoryunknown regulatory elementreduced mRNA(Garcia et al., 2008; Jinnah et al., 2010)
LN1HNDUnknown regulatoryunknown regulatory elementreduced mRNA(Garcia et al., 2008)
Sample #2LNDUnknown regulatorynormalreduced mRNA(Nguyen et al., 2012)
NLLNDUnknown regulatorynormalno activitynew
Salamanca, AA, JMAHNDDouble mutationc.[128T>G;130G>A]2 amino acids altered in exon 2(Jinnah et al., 2010; Puig et al., 2001; Sege-Peterson et al., 1992; Torres et al., 2000)
Japan2HNDDouble mutationc.[536T>G;538G>A]2 amino acids altered in exon 8(Igarishi et al., 1989)
LN210, GLNDComplex deletion c.-4_4delinsGCCframe shift in exon 1new
DKNAComplex deletion c.52_54 delGACinsTAAp.Asp18*new
NSLNDComplex deletion c.119_129delinsGGACTAATsplicing error(Gucev et al., 2010)
BarcelonaHNDComplex deletion c.176_180delins ATAGATGTGAAA [1]frame shift(Serrano et al., 2008)
Case 1-1HNDComplex deletion c.238_239delinsTT1 amino acid altered in exon 3, p.D80F(Jinnah et al., 2010)
GBHNDComplex deletion c.238_239delinsTT1 amino acid altered in exon 3, p.D80Fnew
10/00, Family 10LNDComplex deletion c.329_332delinsTCT3 bp substituted for 4 bp in exon 4(Bertelli et al., 2004; de Gemmis et al., 2010)
IDLNDComplex deletion c.320_326delATGACCAinsCTTTTTTATframe shift in exon 4new
LN9LNDComplex deletion c.398_402delinsG5 bp replaced with 1 bp in exon 5(Jinnah et al., 2000)
RJK 1210, LN40-4, GBLNDComplex deletion c.428_432delinsAGCAAA6 bp substituted for 5 bp in exon 6(Gibbs et al., 1989; Jinnah et al., 2006)
NSLNDComplex deletion c.456delinsTTframe shiftnew
Family 8LNDComplex deletion c.[475_476insAAGGT;479+27_479+35del9]exon 2 codes for 2 additional amino acid(Yamada et al., 2007)
Shinagawa, TSLNDComplex deletion c.538G>A and 77bp deletion of exon 8exon 8 excluded(Fujimori et al., 1994)
CTLNDInsertationc.288_289insAframe shife in exon 3(Jinnah et al., 2000)
RWHNDInsertationc.429_430insGCAexon 6 codes for an additional amino acid(Sege-Peterson et al., 1992)
NSLNDInsertationc.475_476insAAGGCTframe shift(Yamada et al., 2011a)
NSLNDInsertationc.556_557insTframe shife in exon 8(Willers et al., 1999)
NSLNDTranslocationtranslocation, intron 3Two kinds of unusual mRNAs are generated by a chimera gene(Yamada et al., 2007)
Paris, LCLNDFemale Mutationc.[558T>G];[XIC]maternal X inactivated; paternal p.Y153* stop mutation(Aral et al., 1996)
FLNLNDFemale Mutationc.[(?_-30)_(*200_?)];[XIC]paternal X inactivated; maternal gene deleted(Ogasawara et al., 1989)
LN54, RMLNDFemale Mutationc.[609+4A>G];[XIC]mosaic paternal X inactivation; maternal IVS8+4A>G(Jinnah et al., 2000; Jinnah et al., 2006)
SLNDFemale Mutationc.[508T>C];[XIC]paternal X inactivated;(De Gregorio et al., 2000b)
Female Mutationmaternal p.R170* stop mutation
NSLNDFemale Mutationc.[151C>T];[XIC]one X allele nonfunctional(Yamada et al., 1994)
Female Mutationp.R51* stop mutation
NSLNDFemale Mutation46,XX,t(X:2)(q26:p25);[XIC]translocation interrupting hprt gene with non-random inactivation of other(Rinat et al., 2005)
NSHRHFemale Mutationc.[215A>G];[XIC]c.215A>G leading to p.Y72C with non-random inactivation of other(Sebesta et al., 2008)
NSHRHFemale Mutationc.[40G>A];[XIC]p.40G>A leading to p.E14K with non-random inactivation of other(Inokuchi et al., 2004)
NSLNDFemale Mutationc.[609+4A>G];[XIC]IVS8+4A>G leading to skip exon 8; non-random inactivation of other(De Gregorio et al., 2005)
LN143 LNDFemale Mutationc.[580G>T];[XIC]p.D194Y; non-random inactivation of othernew

[1] In original report, it was c.261_265delins12.