LOVD - Variant listings for HGD

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AKU_00000 00 c.(?)
  (Reported 51 times)
r.(?) p.(?) unknown - unknown - de Bernabe et al. (1998) - AKU_DB_12b unknown - - DNA SEQ unknown
AKU_00200 01-04 c.(?_1)_(282+1_283-1)del r.(?) p.(?) ex1,2,3,4 del - deletion - Ascher et al. (2019) - AKU_TR3_0122b deletion - - DNA SEQ, MLPA multiple exons
AKU_00235 01 c.1A>G r.(?) p.(Met1Val)? M1V? - missense Activation of downstream start-codon/frameshift Soltysova et al. (2021), Bychkov et al. (2021) - AKU_DB_336b substitution ? - DNA SEQ exon
AKU_00001 01 c.8A>C r.(?) p.(Glu3Ala) E3A rs200412910 missense unknown Vilboux et al. (2009) - AKU_VIL_93a substitution - - DNA SEQ exon
AKU_00003 01 c.11T>A r.(?) p.(Leu4*) L4* rs786204422 nonsense - Phornphutkul et al. (2002) - AKU_VIL_29a substitution - - DNA SEQ exon
AKU_00002 01 c.11T>C
  (Reported 2 times)
r.(?) p.(Leu4Ser) L4S - missense Protomer destabilisation Phornphutkul et al. (2002) - AKU_VIL_30a substitution - - DNA SEQ exon
AKU_00248 01i c.16-2063A>C
  (Reported 2 times)
r.(?) p.(Tyr5_Ile6insVal*17) in1 pseudoexon ? aberrant splicing, pseudogene inclusion - Lee et al. (2022) - AKU_DB_421b substitution ? - DNA SEQ intron
AKU_00126 01i c.16-175C>G r.(?) p.(?) ivs1-175C>G rs17140398 polymorphism - Vilboux et al. (2009) - AKU_POL_20 substitution - 0,234(G) DNA SEQ intron
AKU_00004 01i c.16-1G>A
  (Reported 49 times)
r.(spl?) p.(Tyr6_Gln29del) ivs1-1G>A rs397515347 aberrant splicing (AS)/exon skipping/in frame deletion? - Muller et al. (1999) - AKU_DB_22a substitution (-)RsaI - DNA SEQ intron
AKU_00164 02 c.16-272_87+305del
  (Reported 10 times)
r.(?) p.(Tyr6_Gln29del) ex2 del rs1553721650 deletion - Habbal et al. (2014) - AKU_DB_152a deletion - - DNA SEQ, MLPA intron/exon
AKU_00005 02 c.31_32delGGinsATT
  (Reported 3 times)
r.(?) p.(Gly11Ilefs*3) G11fs (F10fs) - frameshift - de Bernabe et al. (1998) CCC triplet AKU_DB_17a deletion/insertion - - DNA SEQ exon
AKU_00167 02 c.37G>A
  (Reported 2 times)
r.(?) p.(Glu13Lys) E13K - missense Hexamer disruption Usher et al. (2015) - AKU_DB_220a substitution - - DNA SEQ exon
AKU_00168 02 c.52G>A
  (Reported 2 times)
r.(?) p.(Asp18Asn) D18N - missense Protomer destabilisation, Hexamer disruption Usher et al. (2015) - AKU_DB_217a substitution (+)HinfI,TfiI;(-)BamHI,BfuCI,BstYI,DpnI,DpnII,MboI,Sau3AI - DNA SEQ exon
AKU_00194 02 c.52G>T r.(?) p.(Asp18Tyr) D18Y - missense Protomer destabilisation, Hexamer disruption Ascher et al. (2019) - AKU_DB_231a substitution - - DNA SEQ exon
AKU_00006 02 c.74T>C
  (Reported 6 times)
r.(?) p.(Leu25Pro) L25P - missense Protomer destabilisation, Hexamer disruption Felbor et al. (1999) CCC triplet AKU_FEL_1a substitution (+)FauI, AciI - DNA SEQ exon
AKU_00182 02 c.85delC
  (Reported 2 times)
r.(?) p.(Gln29Argfs*82) Q29fs - frameshift - Ascher et al. (2019) - AKU_TR2_0301a deletion ? - DNA SEQ exon
AKU_00150 02i c.87+1G>A
  (Reported 18 times)
r.(spl?) p.(Tyr6_Gln29del) ivs2+1G>A - aberrant splicing (DS)/exon skipping/in frame deletion? - Sakthivel et al. (2014) - AKU_DB_153a substitution - - DNA SEQ intron
AKU_00176 02i c.87+8_88-31delCAAATA[753bp]TGGGAG
  (Reported 2 times)
r.(?) p.(?) in2 del - deletion - Ascher et al. (2019) - AKU_TR2_0247a deletion - - DNA SEQ intron
AKU_00107 02i c.87+35A>T r.(?) p.(?) ivs2+35A>T rs2733825 polymorphism - de Bernabe et al. (1998) - AKU_POL_1 substitution - 0,12(T) DNA SEQ intron
AKU_00127 02i c.87+118A>G r.(?) p.(?) ivs2+118A>G rs17140396 polymorphism - Vilboux et al. (2009) - AKU_POL_21 substitution - 0,076(G) DNA SEQ intron
AKU_00108 02i c.88-218A>T r.(?) p.(?) ivs2-218A>T - polymorphism - Granadino et al. (1997) - AKU_POL_2 substitution - - DNA SEQ intron
AKU_00007 03 c.98A>G r.(?) p.(Gln33Arg) Q33R - missense Hexamer disruption Zatkova et al. (2012) - AKU_DB_100a substitution (+)BsoBI, AvaI - DNA SEQ exon
AKU_00160 03 c.119A>C
  (Reported 2 times)
r.(?) p.(Tyr40Ser) Y40S - missense Protomer destabilisation, Hexamer disruption Nemethova et al. (2016) - AKU_DB_192a substitution - - DNA SEQ exon
AKU_00165 03 c.124delG (not c.115delG) r.(?) p.(Glu42Serfs*69) (not p.(Leu39Ser*72) E42fs - frameshift - Li et al. (2014) - AKU_DB_201a deletion (+)BfaI, BmtI, Cac8I, NheI;(-)BlpI - DNA SEQ exon
AKU_00008 03 c.125A>C
  (Reported 27 times)
r.(?) p.(Glu42Ala) E42A rs373921680 missense Protomer destabilisation, Hexamer disruption de Bernabe et al. (1998) - AKU_DB_8a substitution (+)HhaI, FspI - DNA SEQ exon
AKU_00230 03 c.127C>G r.(?) p.(Gln43Glu) Q43E - missense Hexamer disruption Soltysova et al. (2021), Bychkov et al. (2021) - AKU_DB_331b substitution ? - DNA SEQ exon
AKU_00009 03 c.130C>T
  (Reported 2 times)
r.(?) p.(Leu44Phe) L44F rs1049246177 missense Protomer destabilisation Zatkova et al. (2012) - AKU_DB_108c substitution (-)AluI - DNA SEQ exon
AKU_00226 03 c.131T>C
  (Reported 3 times)
r.(?) p.(Leu44Pro) L44P - missense Hexamer disruption Soltysova et al. (2021), Bychkov et al. (2021) - AKU_DB_297b substitution ? - DNA SEQ exon
AKU_00010 03 c.140C>T
  (Reported 5 times)
r.(?) p.(Ser47Leu) S47L rs369517993 missense Hexamer disruption Zatkova et al. (2000a) CpG AKU_DB_57a substitution (-)MboI, AlwI, Sau3AI, DpnI, DpnII - DNA SEQ exon
AKU_00011 03 c.157C>T
  (Reported 2 times)
r.(?) p.(Arg53Trp) R53W rs759435977 missense Protomer destabilisation, Hexamer disruption Rodriguez et al. (2000) CpG AKU_DB_45a substitution (+)NcoI, StyI - DNA SEQ exon
AKU_00152 03 c.158G>A
  (Reported 18 times)
r.(?) p.(Arg53Gln) R53Q rs200808744 missense Hexamer disruption Nemethova et al. (2016); Usher et al. (2015) CpG AKU_DB_169a substitution (-)BsaJI, BtgI - DNA SEQ exon
AKU_00012 03 c.171G>C r.(?) p.(Lys57Asn) K57N - missense Protomer destabilisation Grasko et al. (2009) - AKU_GRA_1a substitution (+)AlwNI - DNA SEQ exon
AKU_00227 03 c.174A>T r.(?) p.(Arg58Ser) R58S - missense Protomer destabilisation Soltysova et al. (2021) - AKU_DB_307b substitution ? - DNA SEQ exon
AKU_00013 03 c.175delA
  (Reported 131 times)
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_ABD_1a deletion - - DNA SEQ exon
AKU_00128 03i c.176+114T>A r.(?) p.(?) ivs3+114T>A - polymorphism - Vilboux et al. (2009) - AKU_POL_22 substitution - 0,013(A) DNA SEQ intron
AKU_00109 03i c.177-112C>T r.(?) p.(?) ivs3-112C>T - polymorphism - AKU database - AKU_POL_3 substitution - 0,45(T) DNA SEQ intron
AKU_00112 03i c.177-52A>C r.(?) p.(?) ivs3-52A>C rs376858353 polymorphism - AKU database - AKU_POL_6 substitution - 0,01(C) DNA SEQ intron
AKU_00111 03i c.177-50C>T r.(?) p.(?) ivs3-50C>T rs145728491 polymorphism - AKU database - AKU_POL_5 substitution - 0,03(T) DNA SEQ intron
AKU_00110 03i c.177-35T>G r.(?) p.(?) ivs3-35T>G - polymorphism - AKU database - AKU_POL_4 substitution - 0,01(G) DNA SEQ intron
AKU_00015 03i c.177-2A>G r.(spl?) p.(Trp60Leufs*16) ivs3-2A>G rs762524252 aberrant splicing (AS)/exon skipping/frameshift? - Phornphutkul et al. (2002) - AKU_PHO_4 substitution - - DNA SEQ intron
AKU_00115 04i al.161-163;(CT)n r.(?) p.(?) HGO-1, D3S4496 - polymorphism,GDB:5584234/UniSTS:474553 - Granadino et al. (1997) - AKU_POL_9 dinucleotide repeat - 0,89(al.161);0,11(al.163) DNA SEQ intron
AKU_00114 04i al.175-201;(CA)n r.(?) p.(?) HGO-3, D3S4556 - polymorphism - de Bernabe et al. (1998) - AKU_POL_8 dinucleotide repeat - 0,208(al.189);0,2(al.193) DNA SEQ intron
AKU_00016 04 c.178T>G
  (Reported 3 times)
r.(?) p.(Trp60Gly) W60G - missense Protomer destabilisation, Hexamer disruption de Bernabe et al. (1999a) - AKU_DB_23b substitution (+)FauI, AciI; (-)AluI - DNA SEQ exon
AKU_00017 04 c.179G>A
  (Reported 2 times)
r.(?) p.(Trp60*) W60* rs1057516467 nonsense - Zatkova et al. (2012) - AKU_DB_107a substitution (+)NheI - DNA SEQ exon
AKU_00202 04 c.180G>A
  (Reported 2 times)
r.(?) p.(Trp60*) W60* - nonsense - Ascher et al. (2019) - AKU_DB_242a substitution ? - DNA SEQ exon
AKU_00018 04 c.182T>C
  (Reported 2 times)
r.(?) p.(Leu61Pro) L61P rs1324654414 missense Protomer destabilisation Phornphutkul et al. (2002) - AKU_VIL_16a substitution (+)HaeIII - DNA SEQ exon
AKU_00224 04 c.184T>A r.(?) p.(Tyr62Asn) Y62N - missense Protomer destabilisation Soltysova et al. (2021) - AKU_DB_291a substitution ? - DNA SEQ exon
AKU_00175 04 c.184_187dupTATA r.(?) p.(arg63Ilefs*2) R63fs - frameshift - Ascher et al. (2019) - AKU_TR2_0262a duplication ? - DNA SEQ exon
AKU_00019 04 c.185A>G
  (Reported 4 times)
r.(?) p.(Tyr62Cys) Y62C - missense Protomer destabilisation, Hexamer disruption de Bernabe et al. (1999a) - AKU_DB_20a substitution - - DNA SEQ exon
AKU_00239 04 c.189G>A
  (Reported 4 times)
r.(?) p.(Arg63Arg) R63R - silent?/splicing? - Kisa et al. (2021) - AKU_TU_06a substitution ? - DNA SEQ exon
AKU_00244 04 c.189G>T
  (Reported 2 times)
r.(?) p.(Arg63Ser) R63S rs1390061303 missense ? Noorian et al. 2018 - AKU_DB_379a substitution ? - DNA SEQ exon
AKU_00020 04 c.217T>C
  (Reported 2 times)
r.(?) p.(Phe73Leu) F73L - missense Protomer destabilisation, Hexamer disruption Vilboux et al. (2009) CCC triplet AKU_VIL_77a substitution - - DNA SEQ exon
AKU_00256 04 c.221A>T r.(?) p.(Glu74Val) E74V rs141965690 missense - Hu et al. (2012) - AKU_DB_425a substitution ? - DNA SEQ exon
AKU_00113 04 c.240A>T r.(?) p.(His80Gln) H80Q rs2255543 polymorphism - de Bernabe et al. (1998) - AKU_POL_7 substitution (+)NlaIII 0,22(A) DNA SEQ exon
AKU_00129 04 c.260A>C r.(?) p.(Glu87Ala) E87A rs35702995 missense/polymorphism? Protomer destabilisation, Hexamer disruption Vilboux et al. (2009) - AKU_POL_23 substitution (+)SfaNI - DNA SEQ exon
AKU_00021 04 c.274C>A r.(?) p.(Pro92Thr) P92T - missense Hexamer disruption Phornphutkul et al. (2002) - AKU_VIL_40a substitution (-)BsaBI - DNA SEQ exon
AKU_00116 04i c.282+31A>G r.(?) p.(?) ivs4+31A>G rs1800722 polymorphism - de Bernabe et al. (1999b) - AKU_POL_10 substitution - 0,02(G) DNA SEQ intron
AKU_00130 04i c.283-145C>T r.(?) p.(?) ivs4-145C>T - polymorphism - Vilboux et al. (2009) - AKU_POL_24 substitution - 0,032(T) DNA SEQ intron
AKU_00117 04i c.283-14insA r.(?) p.(?) ivs4-14insA - polymorphism - AKU database - AKU_POL_11 insertion - 0,01(A) DNA SEQ intron
AKU_00118 04i c.283-4T>C r.(?) p.(?) ivs4-4T>C - aberrant splicing (AS)/exon skipping, polymorphism? - AKU database - AKU_POL_12 substitution - 0,001(C) DNA SEQ intron
AKU_00197 05_06 c.283-9199_c.434+1688del r.(?) p.(Leu95Metfs*33) ex5,6 del - deletion - Ascher et al. (2019) CpG AKU_TR2_0115b deletion - - DNA SEQ, MLPA exon
AKU_00022 05 c.289T>C
  (Reported 2 times)
r.(?) p.(Trp97Arg) W97R - missense Protomer destabilisation Phornphutkul et al. (2002) - AKU_VIL_49a substitution - - DNA SEQ exon
AKU_00023 05 c.289T>G
  (Reported 4 times)
r.(?) p.(Trp97Gly) W97G - missense Protomer destabilisation de Bernabe et al. (1998) - AKU_DB_14a substitution (+)MnlI - DNA SEQ exon
AKU_00243 05 c.291G>A
  (Reported 2 times)
r.(?) p.(Trp97*) W97* rs766714128 nonsense - clinvar database - AKU_CV_01a substitution ? - DNA SEQ exon
AKU_00177 05 c.291G>C
  (Reported 2 times)
r.(?) p.(Trp97Cys) W97C - missense - Ascher et al. (2019) - AKU_TR2_0118a substitution ? - DNA SEQ exon
AKU_00220 05 c.299T>C r.(?) p.(Phe100Ser) F100S - missense Protomer destabilisation submitted, Dr. Andrea Zatkova - AKU_DB_283b substitution ? - DNA SEQ exon
AKU_00242 05 c.334T>G r.(?) p.(Phe112Val) P112V - missense ? Kisa et al. (2021) - AKU_TU_29a substitution ? - DNA SEQ exon
AKU_00025 05i c.342+1G>A
  (Reported 8 times)
r.(spl?) p.(Leu95_Ser114del) ivs5+1G>A rs397515518 aberrant splicing (DS)/exon skipping/in frame deletion? - Muller et al. (1999) c.342+1G AKU_DB_41a substitution - - DNA SEQ intron
AKU_00024 05i c.342+1G>T
  (Reported 9 times)
r.(spl?) p.(Leu95_Ser114del) ivs5+1G>T rs397515518 aberrant splicing (DS)/exon skipping/in frame deletion? - de Bernabe et al. (1998) c.342+1G AKU_DB_9a substitution - - DNA SEQ intron
AKU_00166 05i c.342+3A>C
  (Reported 4 times)
r.(spl?) p.(Leu95_Ser114del) ivs5+3A>C rs1182670238 aberrant splicing (DS)/exon skipping/in frame deletion? - Li et al. (2014) - AKU_DB_201b substitution ? - DNA SEQ exon
AKU_00119 05i c.342+25T>C r.(?) p.(?) ivs5+25T>C rs2551607 polymorphism - de Bernabe et al. (1998) - AKU_POL_13 substitution - 0,12(C.) DNA SEQ intron
AKU_00192 05i c.343-11G>A
  (Reported 2 times)
r.(?) p.(?) ivs5-11G>A rs143223637 polymorphism - Ascher et al. (2019) - AKU_TR2_0332c substitution - - DNA/RNA SEQ intron
AKU_00146 06 c.343G>C
  (Reported 4 times)
r.(?) p.(Gly115Arg) G115R rs755734596 missense Protomer destabilisation Zatkova et al. (2012) - AKU_DB_124a substitution (+)PleI, HinfI - DNA SEQ exon
AKU_00026 06 c.347T>C
  (Reported 7 times)
r.(?) p.(Leu116Pro) L116P rs569846003 missense Protomer destabilisation Zatkova et al. (2012) - AKU_DB_112a substitution (+)FauI, AciI - DNA SEQ exon
AKU_00027 06 c.357dupG r.(?) p.(Cys120Valfs*9) C120fs - frameshift - Phornphutkul et al. (2002) - AKU_PHO_8 insertion (+)BslI ? - DNA SEQ exon
AKU_00028 06 c.359G>T
  (Reported 17 times)
r.(?) p.(Cys120Phe) C120F rs752153829 missense Protomer destabilisation Vilboux et al. (2009) - AKU_VIL_13a substitution - - DNA SEQ exon
AKU_00029 06 c.360T>G
  (Reported 16 times)
r.(?) p.(Cys120Trp) C120W rs149165166 missense Protomer destabilisation Goicoechea de Jorge et al. (2002) - AKU_DB_73a substitution - - DNA SEQ exon
AKU_00250 06 c.362G>A
  (Reported 2 times)
r.(?) p.(Gly121Glu) G121E - missense ? Danda et al. (2020) - AKU_DB_380a substitution ? - DNA SEQ exon
AKU_00030 06 c.365C>A r.(?) p.(Ala122Asp) A122D - missense Protomer destabilisation, Hexamer disruption de Bernabe et al. (1999a) - AKU_DB_25a substitution (-)AluI, BpmI - DNA SEQ exon
AKU_00031 06 c.365C>T
  (Reported 44 times)
r.(?) p.(Ala122Val) A122V rs544956641 missense Hexamer disruption Phornphutkul et al. (2002) - AKU_DB_49b substitution (-)AluI, BpmI - DNA SEQ exon
AKU_00032 06 c.367G>A
  (Reported 6 times)
r.(?) p.(Gly123Arg) G123R rs564979861 missense Protomer destabilisation, Hexamer disruption Vilboux et al. (2009) - AKU_VIL_87a substitution (-)BpmI - DNA SEQ exon
AKU_00033 06 c.368G>C
  (Reported 14 times)
r.(?) p.(Gly123Ala) G123A - missense Protomer destabilisation, Hexamer disruption Zatkova et al. (2012) - AKU_DB_113a substitution (-)BpmI; (+)PstI - DNA SEQ exon
AKU_00222 06 c.372C>T r.(?) p.(Asp124Asp) D124D rs140977117 silent - Soltysova et al. (2021) - AKU_DB_287d substitution ? - DNA SEQ exon
AKU_00034 06 c.376_377delAA
  (Reported 2 times)
r.(?) p.(Lys126Valfs*2) K126fs - frameshift - Vilboux et al. (2009) - AKU_VIL_50a deletion (+)Tth111I; (-)AhdI - DNA SEQ exon
AKU_00035 06 c.407T>A r.(?) p.(Phe136Tyr) F136Y - missense Protomer destabilisation Phornphutkul et al. (2002) - AKU_PHO_9 substitution - - DNA SEQ exon
AKU_00036 06 c.410T>C
  (Reported 3 times)
r.(?) p.(Leu137Pro) L137P - missense Protomer destabilisation Vilboux et al. (2009) - AKU_VIL_17b substitution - - DNA SEQ exon
AKU_00232 06 c.413G>A r.(?) p.(Cys138Tyr) C138Y - missense Protomer destabilisation Soltysova et al. (2021), Bychkov et al. (2021) - AKU_DB_334b substitution ? - DNA SEQ exon
AKU_00037 06 c.413_434+35del57
  (Reported 2 times)
r.(?) p.(Gly115Metfs*33) G115fs (?), c.413_434+35del57 rs762629587 deletion/exon skipping/frameshift? - Vilboux et al. (2009) - AKU_VIL_20a deletion - - DNA SEQ exon
AKU_00038 06 c.429G>Y (C,T) r.(?) p.(Glu143Asp) E143D - missense/polymorphism?; exact nt change was not indicated and not reconstructible unknown Phornphutkul et al. (2002) - AKU_PHO_10 substitution - - DNA SEQ exon
AKU_00039 06 c.433A>T r.(?) p.(Arg145*) R145* - nonsense - Phornphutkul et al. (2002) - AKU_PHO_11 substitution - - DNA SEQ exon
AKU_00120 06i c.434+46C>A r.(?) p.(?) ivs6+46C>A rs3817627 polymorphism - de Bernabe et al. (1998) - AKU_POL_14 substitution - 0,31(A) DNA SEQ intron
AKU_00155 07 c.440T>C
  (Reported 2 times)
r.(?) p.(Phe147Ser) F147S - missense Protomer destabilisation Nemethova et al. (2016) - AKU_DB_180b substitution - - DNA SEQ exon
AKU_00040 07 c.447T>A r.(?) p.(Asn149Lys) N149K - missense Protomer destabilisation, Hexamer disruption Vilboux et al. (2009) - AKU_VIL_36a substitution - - DNA SEQ exon
AKU_00181 07 c.449C>T r.(?) p.(Ser150Leu) S150L - missense Hexamer disruption Ascher et al. (2019) - AKU_TR2_0105b substitution ? - DNA SEQ exon
AKU_00174 07 c.454G>A r.(?) p.(Gly152Arg) G152R - missense Protomer destabilisation, Hexamer disruption Ascher et al. (2019) CCC triplet AKU_TR2_0257b substitution ? - DNA SEQ exon
AKU_00041 07 c.455G>C r.(?) p.(Gly152Ala) G152A rs1553717936 missense Protomer destabilisation, Hexamer disruption Zatkova et al. (2012) CCC triplet AKU_DB_100b substitution (-)BsmFI; (+)AciI - DNA SEQ exon
AKU_00042 07 c.457dupG
  (Reported 42 times)
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_101a insertion - - DNA SEQ exon
AKU_00205 07 c.457G>A r.(?) p.(Asp153Asn) D153N - missense Protomer destabilisation submitted, Dr. Jeannette Usher CCC triplet AKU_DB_253a substitution ? - DNA SEQ exon
AKU_00043 07 c.458A>G
  (Reported 4 times)
r.(?) p.(Asp153Gly) D153G - missense Protomer destabilisation de Bernabe et al. (1998) CCC triplet AKU_DB_13a substitution (-)BsmFI - DNA SEQ exon
AKU_00206 07 c.469G>T
  (Reported 3 times)
r.(?) p.(Val157Phe) V157F - missense Protomer destabilisation submitted, Dr. Jeannette Usher - AKU_DB_254a substitution ? - DNA SEQ exon
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Coding DNA Reference Sequence: NM_000187.3, the first base of the Met-codon is counted as position 1.

Some specific features:
Exon: (00) stands for any exon; (i) indicates intron.
DNA: (c.?) or wobble code is used when nucleotide change was not known or not indicated
Variant original description: brief name of the mutation; if original description of the mutation was different, it is indicated after comma
Remarks: description of the variant, AS= acceptor site, DS=donor site
Predicted Mutation Effect**: The effects of the novel missense variants on stability and protein-protein afinity was assessed in the context
of the molecular interactions of the wild-type residue using mCSM Pires et al. (2014a) and DUET Pires et al. (2014b). Details are downloadable here: TABLE

Allele_code: i.e. patient with the Patient_ID (AKU_AQR_11) has alleles AKU_AQR_11a and AKU_AQR_11b
Restriction site: mutation abolishes (-) or creates (+) specific restriction site
Frequency: of specific polymorphic alleles (AKUdatabase or Vilboux at al. (2009))
Patient_ID: in cases with ID starting with AKU_DB_ we report also HGD haplotypes that can be found in this link: HGD haplotypes associated with AKU mutations
DBID: AKU_00000 is used for alleles with unknown mutation

References not present in PubMed:
Aquaron et al. (2009) (not listed in PubMed): Current Rheumatology Reviews, 2009, 5:111-125. https://doi.org/10.2174/157339709788298419
Cho end Kim (2018) (not listed in PubMed): J Genet Med, 2018, 15:17-19. https://doi.org/10.5734/JGM.2018.15.1.17
Kilavuz et al. (2018) (not listed in PubMed): J. Pediatr. Res. 2018, 5: 7-11. https://doi.org/10.4274/jpr.20982
Akbaba et al. (2020) (not listed in PubMed): JPEM, 33 (2): 289-294, https://doi.org/10.1515/jpem-2019-0163
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Legend: [ HGD full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
HGD DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Original description: Variant_original_description Links: Links Variant remarks: Variant remarks Predicted Mutation Effect**: The effects of the novel missense variants on stability and protein-protein afinity was assessed in the context of the molecular interactions of the wild-type residue using mCSM and DUET. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Mutation HOT-SPOT: mutation_HOT_SPOT Allele code: Allele_code Type: Type of variant at DNA level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Location: Variant location at DNA level.