Search unique variants - HGD mutation database - Leiden Open Variation Database

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The variants below are all in the HGD database, matching your query. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the HGD full legend here.

258 entries
entries per page

DB-ID

Exon

DNA change

RNA change

Protein

Original description

Links

Variant remarks

Predicted Mutation Effect**

Reference

Mutation HOT-SPOT

Allele code

Type

Re-site

Frequency

Template

Technique

Location


AKU_00000	00	c.(?) (Reported 50 times)	r.(?)	p.(?)	unknown	-	unknown	-	de Bernabe et al. (1998)	-	AKU_DB_12b	unknown	-	-	DNA	SEQ	unknown
AKU_00200	01-04	c.1-8460_282+6727del	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	rs1708240463	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_00266	01	c.15G>A (Reported 2 times)	r.(?)	p.(Lys5Lys)	K5K	-	silent/aberrant splicing	-	Tao et al. (2022)	-	AKU_DB_434a	substitution	?	-	DNA	SEQ	exon
AKU_00248	01i	c.16-2063A>C (Reported 2 times)	r.(?)	p.(Tyr5_Ile6insVal*17)	in1 pseudoexon	-	aberrant splicing (AS), 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 4 times)	r.(?)	p.(Gly11Ilefs*3)	G11fs (F10fs)	rs1057516362	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_00265	02	c.54T>A	r.(?)	p.(Asp18Glu)	D18E	-	missense	Protomer destabilisation, Hexamer disruption	Ascher et al. (2019)	-	AKU_TR2_0102b	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_88-31del (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)	E42fs (before c.115delG (L39fs; p.(Leu39Ser*72))	-	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	rs1243059404	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	rs1708095030	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 (c.283-5218_283-5168(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 (c.282+942_282+979(TG)n)	r.(?)	p.(?)	HGO-3, D3S4556	-	polymorphism,GDB:	-	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/aberrant 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	missense/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 5 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)	F112V	-	missense	?	Kisa et al. (2021)	-	AKU_TU_29a	substitution	?	-	DNA	SEQ	exon
AKU_00260	05	c.335T>C	r.(?)	p.(Phe112Ser)	F112S	-	missense	-	Puente et al. (2022)	-	AKU_DB_435a	substitution	?	-	DNA	SEQ	exon
AKU_00025	05i	c.342+1G>A (Reported 9 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	rs1576294110	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/polymorphism - no effect on splicing	-	Ascher et al. (2019)	-	AKU_DB_287d	substitution	?	-	DNA	SEQ	exon
AKU_00034	06	c.376_377delAA (Reported 2 times)	r.(?)	p.(Lys126Valfs*2)	K126fs	rs1057516976	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	rs1941316527	missense	Protomer destabilisation	Soltysova et al. (2021), Bychkov et al. (2021)	-	AKU_DB_334b	substitution	?	-	DNA	SEQ	exon
AKU_00037	06	c.413_434+35del (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

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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
Mwafi et al. (2021) (not listed in PubMed): AIMS Molecular Science, 8 (1): 60-75, https://doi.org/10.3934/molsci.2021005
Noorian et al. (2018) (not listed in PubMed): Meta Gene, 18: 174-176, https://doi.org/10.1016/j.mgene.2018.09.006

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.

HGD mutation database

homogentisate 1,2-dioxygenase (HGD)