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

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The variants below are all in the HGD database. 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_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
AKU_00158	07i	c.469+1G>C	r.(spl?)	p.(Arg145Serfs*22)	ivs7+1G>C	rs1260545974	aberrant splicing (DS)/exon skipping, frameshift?	-	Yang et al. (2013)	-	AKU_DB_163b	substitution	-	-	DNA	SEQ	intron
AKU_00044	07i	c.469+2T>C (Reported 6 times)	r.(spl?)	p.(Arg145Serfs*22)	ivs7+2T>C	rs745333667	aberrant splicing (DS)/exon skipping/frameshift?	-	Phornphutkul et al. (2002)	-	AKU_DB_96a	substitution	-	-	DNA	SEQ	intron
AKU_00045	07i	c.469+5G>A (Reported 5 times)	r.(spl?)	p.(Arg145Serfs*22)	ivs7+5G>A	-	aberrant splicing (DS)/exon skipping/frameshift?	-	Porfirio et al. (2000)	-	AKU_DB_27a	substitution	-	-	DNA	SEQ	intron
AKU_00159	07i	c.469+6T>C (Reported 6 times)	r.(spl?)	p.(Arg145Serfs*22)	ivs7+6T>C	-	aberrant splicing (DS)/exon skipping, frameshift?	-	Nemethova et al. (2016)	-	AKU_DB_186a	substitution	-	-	DNA	SEQ	intron
AKU_00131	07i	c.469+24C>A (Reported 2 times)	r.(?)	p.(?)	ivs7+24C>A	rs756912701	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_25	substitution	-	0,013(A)	DNA	SEQ	intron
AKU_00225	07i	c.470-1G>A	r.(?)	p.(Val157Serfs*21)	ivs7-1G>A	-	aberrant splicing (AS)/exon skipping	-	Soltysova et al. (2021)	-	AKU_DB_296b	substitution	?	-	DNA	SEQ	exon
AKU_00046	08	c.470-1_470insA	r.(?)	p.(Val157Aspfs*22)	V157fs	-	frameshift	-	Zatkova et al. (2012)	-	AKU_DB_110b	insertion	-	-	DNA	SEQ	exon
AKU_00145	08	c.472_496del	r.(?)	p.(Pro158Thrfs*25)	P158fs; before c.470-1_494del25;p.(Val157Glufs*11)	-	deletion/exon skipping/frameshift?	-	Zatkova et al. (2012)	-	AKU_DB_123b	deletion	-	-	DNA	SEQ	exon
AKU_00047	08	c.473C>G	r.(?)	p.(Pro158Arg)	P158R	-	missense	Protomer destabilisation	Phornphutkul et al. (2002)	CpG	AKU_PHO_13	substitution	(-)BslI, AciI	-	DNA	SEQ	exon
AKU_00048	08	c.473C>T (Reported 6 times)	r.(?)	p.(Pro158Leu)	P158L	rs375396766	missense	Protomer destabilisation	Vilboux et al. (2009)	CpG	AKU_VIL_3b	substitution	(+)PstI, SfcI; (-)BslI, AciI	-	DNA	SEQ	exon
AKU_00132	08	c.474G>T	r.(?)	p.(Pro158Pro)	P158P	rs2293734	silent/polymorphism	-	Vilboux et al. (2009)	CpG	AKU_POL_26	substitution	(+)EcoNI, DdeI, MnlI; (-)AciI	-	DNA	SEQ	exon
AKU_00049	08	c.477G>Y (C,T)	r.(?)	p.(Gln159His)	Q159H	-	missense; exact nt change was not indicated and not reconstructible	Protomer destabilisation	Phornphutkul et al. (2002)	-	AKU_PHO_14	substitution	-	-	DNA	SEQ	exon
AKU_00050	08	c.481G>A (Reported 216 times)	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_101b	substitution	(-)BslI	-	DNA	SEQ	exon
AKU_00161	08	c.500C>T	r.(?)	p.(Thr167Ile)	T167I	-	missense	Hexamer disruption	Nemethova et al. (2016)	-	AKU_TR_0212b	substitution	-	-	DNA	SEQ	exon
AKU_00051	08	c.502G>A (Reported 10 times)	r.(?)	p.(Glu168Lys)	E168K	rs375283568	missense	Hexamer disruption	Higashino et al. (1998)	CpG	AKU_HIG_1a	substitution	-	-	DNA	SEQ	exon
AKU_00052	08	c.502G>T (Reported 2 times)	r.(?)	p.(Glu168*)	E168*	-	nonsense	-	Vilboux et al. (2009)	CpG	AKU_VIL_36b	substitution	(+)BfaI	-	DNA	SEQ	exon
AKU_00053	08	c.504G>C (Reported 6 times)	r.(?)	p.(Glu168Asp)	E168D	rs780173554	missense	Protomer destabilisation, Hexamer disruption	Phornphutkul et al. (2002)	CpG	AKU_VIL_45a	substitution	-	-	DNA	SEQ	exon
AKU_00144	08	c.507T>G	r.(?)	p.(Phe169Leu)	F169L	rs756134838	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_122b	substitution	-	-	DNA	SEQ	exon
AKU_00195	08	c.508G>A	r.(?)	p.(Gly170Ser)	G170S	-	missense	Protomer destabilisation, Hexamer disruption	Ascher et al. (2019)	-	AKU_DB_231b	substitution	-	-	DNA	SEQ	exon
AKU_00187	08	c.509G>C	r.(?)	p.(Gly170Ala)	G170A	-	missense	-	Ascher et al. (2019)	-	AKU_TR2_0331b	substitution	?	-	DNA	SEQ	exon
AKU_00054	08	c.513G>T (Reported 4 times)	r.(?)	p.(Lys171Asn)	K171N	-	missense	Protomer destabilisation	Phornphutkul et al. (2002)	-	AKU_DB_212a	substitution	(-)SfaNI	-	DNA	SEQ	exon
AKU_00054	08	c.513G>Y (C,T)	r.(?)	p.(Lys171Asn)	K171N	-	missense; exact nt change was not indicated and not reconstructible	Protomer destabilisation	Phornphutkul et al. (2002)	-	AKU_PHO_16	substitution	(-)SfaNI	-	DNA	SEQ	exon
AKU_00169	08	c.515T>C	r.(?)	p.(Met172Thr)	M172T	-	missense	Protomer destabilisation	Usher et al. (2015)	-	AKU_DB_207a	substitution	(+)HgaI;(-)SfaNI	-	DNA	SEQ	exon
AKU_00056	08	c.533A>G (Reported 3 times)	r.(?)	p.(Glu178Gly)	E178G	-	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_93b	substitution	(+)AlwI; (-)BglII	-	DNA	SEQ	exon
AKU_00055	08	c.534G>Y (C,T)	r.(?)	p.(Glu178Asp)	E178D	-	missense; exact nt change was not indicated and not reconstructible	Protomer destabilisation	Phornphutkul et al. (2002)	-	AKU_PHO_17	substitution	-	-	DNA	SEQ	exon
AKU_00231	08	c.536T>G	r.(?)	p.(Ile179Ser)	I179S	rs1031569954	missense	Protomer destabilisation	Soltysova et al. (2021), Bychkov et al. (2021)	-	AKU_DB_333b	substitution	?	-	DNA	SEQ	exon
AKU_00057	08	c.541G>T (Reported 2 times)	r.(?)	p.(Val181Phe)	V181F	-	missense	Protomer destabilisation	Rodriguez et al. (2000)	CpG	AKU_DB_44a	substitution	(-)HgaI	-	DNA	SEQ	exon
AKU_00058	08	c.549G>T	r.(?)	p.(Gln183Arg)	Q183R	rs759615683	missense	Protomer destabilisation	Vilboux et al. (2009)	-	AKU_VIL_64a	substitution	-	-	DNA	SEQ	exon
AKU_00059	08i	c.549+1G>A	r.(spl?)	p.(Val156Glufs*11)	ivs8+1G>A	-	aberrant splicing (DS)/exon skipping/frameshift?	-	Vilboux et al. (2009)	-	AKU_VIL_35a	substitution	-	-	DNA	SEQ	exon
AKU_00240	08i	c.549+1G>T (Reported 2 times)	r.(?)	?	ivs8+1G>T	-	aberrant splicing (DS)/exon skipping/frameshift?	-	Kisa et al. (2021)	-	AKU_TU_10a	substitution	?	-	DNA	SEQ	intron
AKU_00106	08i	c.549+31C>T	r.(?)	p.(?)	ivs8+31C>T	-	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_35	substitution	-	0,006(T)	DNA	SEQ	intron
AKU_00060	08i	c.550-2A>C (Reported 2 times)	r.(spl?)	p.(Arg184Glyfs*12)	ivs8-2A>C	-	aberrant splicing (AS)/exon skipping/frameshift?	-	Phornphutkul et al. (2002)	-	AKU_PHO_18	substitution	-	-	DNA	SEQ	intron
AKU_00180	08i	c.550-2A>G	r.(?)	p.(Arg184Glyfs*12)	ivs8-2A>G	-	aberrant splicing (AS)/exon skipping/frameshift?	-	submitted	-	AKU_TR2_0102a	substitution	?	-	DNA	SEQ	intron
AKU_00185	09	c.553G>A	r.(?)	p.(Gly185Arg)	G185R	-	missense	Protomer destabilisation, Hexamer disruption	Ascher et al. (2019)	-	AKU_TR2_0321b	substitution	?	-	DNA	SEQ	exon
AKU_00149	09	c.557T>A (Reported 3 times)	r.(?)	p.(Met186Lys)	M186K	-	missense	Protomer destabilisation, Hexamer disruption	Nemethova et al. (2016)	-	AKU_DB_148b	substitution	(-)BsmI	-	DNA	SEQ	exon
AKU_00061	09	c.559C>G	r.(?)	p.(Arg187Gly)	R187G	rs756255206	missense	Protomer destabilisation	Vilboux et al. (2009)	CpG	AKU_VIL_23b	substitution	(-)BsmI, AciI	-	DNA	SEQ	exon
AKU_00062	09	c.566G>T (Reported 2 times)	r.(?)	p.(Ser189Ile)	S189I	-	missense	unknown	de Bernabe et al. (1998)	-	AKU_DB_4a	substitution	-	-	DNA	SEQ	exon
AKU_00249	09	c.587C>T	r.(?)	p.(Thr196Ile)	T196I	rs781491692	missense	?	Lee et al. (2022)	-	AKU_DB_422b	substitution	?	-	DNA	SEQ	exon
AKU_00063	09	c.588delC (Reported 3 times)	r.(?)	p.(Arg197Glyfs*32)	R197fs (T196fs)	rs1414279737	frameshift	-	Rodriguez et al. (2000)	-	AKU_DB_46a	deletion	(-)BstNI, BsaI, ScrFI	-	DNA	SEQ	exon
AKU_00141	09	c.589A>G	r.(?)	p.(Arg197Gly)	R197G	rs1414279737	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_120b	substitution	(+)MspI, HpaII; (-)BstNI	-	DNA	SEQ	exon
AKU_00064	09	c.593G>A (Reported 2 times)	r.(?)	p.(Gly198Asp)	G198D	-	missense	Protomer destabilisation	Mannoni et al. (2004)	CCC triplet	AKU_MAN_1a	substitution	(+)BsmFI	-	DNA	SEQ	exon
AKU_00153	09	c.614G>A	r.(?)	p.(Gly205Asp)	G205D	rs754802510	missense	Protomer destabilisation	Nemethova et al. (2016)	-	AKU_DB_174a	substitution	?	-	DNA	SEQ	exon
AKU_00186	09	c.614G>T	r.(?)	p.(Gly205Val)	G205V	rs754802510	missense	-	Ascher et al. (2019)	-	AKU_TR2_0327b	substitution	?	-	DNA	SEQ	exon
AKU_00065	09	c.647T>C (Reported 4 times)	r.(?)	p.(Ile216Thr)	I216T	rs767201131	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_12a	substitution	(-)MfeI; (+)BsrI	-	DNA	SEQ	exon
AKU_00066	09	c.649G>T (Reported 2 times)	r.(?)	p.(Gly217Trp)	G217W	-	missense	Protomer destabilisation, Hexamer disruption	Vilboux et al. (2009)	-	AKU_VIL_27b	substitution	(-)MfeI	-	DNA	SEQ	exon
AKU_00255	09i	c.649+1G>A	r.(?)	p.(Arg184Glyfs*12)?	ivs9+1G>A	-	aberrant splicing (DS)/exon skipping	-	Bychkov et al. (2021)	-	AKU_DB_407a	substitution	-	-	DNA	SEQ	intron
AKU_00211	09i	c.649+2T>C (Reported 3 times)	r.(?)	p.(?)	ivs9+2T>C	rs1057516307	aberrant splicing (DS)/exon skipping/frameshift	-	submitted, Dr. Andrea Zatkova	-	AKU_DB_276a	substitution	-	-	DNA	SEQ	intron
AKU_00189	09i	c.649+31G>A	r.(?)	p.(?)	ivs9+31G>A	rs376223608	polymorphism	-	Usher et al. (2015)	-	AKU_DB_122c	substitution	-	-	DNA	SEQ	intron
AKU_00190	09i	c.649+39T>G (Reported 2 times)	r.(?)	p.(?)	ivs9+39T>G	-	aberrant splicing (AS)	-	Usher et al. (2015)	-	AKU_DB_131b	substitution	-	-	DNA	SEQ	intron
AKU_00133	09i	c.649+104C>T	r.(?)	p.(?)	ivs9+104C>T	rs1862942	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_27	substitution	-	0,095(T)	DNA	SEQ	intron
AKU_00134	09i	c.650-86A>G	r.(?)	p.(?)	ivs9-86A>G	rs2075504	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_28	substitution	-	0,057(G)	DNA	SEQ	intron
AKU_00267	09i	c.650-85A>G (Reported 2 times)	r.(?)	p.(?)	ivs9-85A>G	rs2075504	polymorphism	-	Nemethova et al. (2016); Ascher et al. (2019)	-	AKU_DB_183c	substitution	-	-	DNA	SEQ	intron
AKU_00067	09i	c.650-56G>A (Reported 3 times)	r.(spl?)	p.(?)	ivs9-56G>A	-	aberrant splicing (AS)/exon skipping	-	de Bernabe et al. (1998)	CCC triplet	AKU_DB_10a	substitution	-	-	DNA	SEQ	intron
AKU_00121	09i	c.650-38insA	r.(?)	p.(?)	ivs9-38insA	-	polymorphism	-	de Bernabe et al. (1998)	-	AKU_POL_15	substitution	-	0,013(A)	DNA	SEQ	intron
AKU_00068	09i	c.650-17G>A	r.(spl?)	p.(?)	ivs9-17G>A	-	aberrant splicing (AS)/exon skipping	-	de Bernabe et al. (1998)	CCC triplet	AKU_DB_10b	substitution	-	-	DNA	SEQ	intron
AKU_00193	09i	c.650-13T>G (Reported 2 times)	r.(?)	p.(?)	ivs9-13T>G	-	aberrant splicing (AS)/exon skipping/cryptic splice site	-	Ascher et al. (2019)	-	AKU_TR2_0332a	substitution	-	-	DNA/RNA	SEQ	intron
AKU_00069	10	c.652delG (Reported 4 times)	r.(?)	p.(Ala218Profs*11)	A218fs (G217fs)	rs916645169	frameshift	-	Ladjouze-Rezig et al. (2006)	CCC triplet	AKU_DB_83a	deletion	(-)NlaIV	-	DNA	SEQ	exon
AKU_00070	10	c.656A>G (Reported 8 times)	r.(?)	p.(Asn219Ser)	N219S	-	missense	Hexamer disruption	Zatkova et al. (2012)	-	AKU_DB_98a	substitution	(+)BsrI, TspRI	-	DNA	SEQ	exon
AKU_00203	10	c.656_657insAATCAA (Reported 3 times)	r.(?)	p.(Ala218_Asn219insLysIle)	A218_N219insKI	-	insertion inframe	-	Ascher et al. (2019)	-	AKU_DB_245b	insertion	-	-	DNA	SEQ	exon
AKU_00210	10	c.659G>T	r.(?)	p.(Gly220Val)	G220V	-	missense	Hexamer disruption	submitted, Dr. Jeannette Usher	-	AKU_DB_268b	substitution	-	-	DNA	SEQ	exon
AKU_00171	10	c.664_674dup	r.(?)	p.(Asp226Profs*7)	D226fs	-	frameshift	-	Usher et al. (2015)	-	AKU_DB_219b	insertion	(+)BsaJI, NmeAIII	-	DNA	SEQ	exon
AKU_00233	10	c.665C>A (Reported 2 times)	r.(?)	p.(Ala222Asp)	A222D	rs1576294110	missense	Protomer destabilisation	Soltysova et al. (2021), Bychkov et al. (2021)	-	AKU_DB_337a	substitution	?	-	DNA	SEQ	exon
AKU_00254	10	c.673C>T (Reported 3 times)	r.(?)	p.(Arg225Cys)	R225C	rs756789146	missense	?	Mwafi et al. 2021	-	AKU_DB_384b	substitution	?	-	DNA	SEQ	exon
AKU_00071	10	c.674G>A (Reported 29 times)	r.(?)	p.(Arg225His)	R225H	rs562853291	missense	Hexamer disruption	de Bernabe et al. (1998)	CpG	AKU_DB_15a	substitution	(+)NlaIII; (-)BssSI	-	DNA	SEQ	exon
AKU_00170	10	c.674G>C (Reported 7 times)	r.(?)	p.(Arg225Pro)	R225P	rs562853291	missense	Hexamer disruption	Usher et al. (2015)	CpG	AKU_DB_216a	substitution	(+)LpnPI;(-)BssSI	-	DNA	SEQ	exon
AKU_00072	10	c.674G>T (Reported 2 times)	r.(?)	p.(Arg225Leu)	R225L	-	missense	Hexamer disruption	Phornphutkul et al. (2002)	CpG	AKU_VIL_62a	substitution	(-)BssSI	-	DNA	SEQ	exon
AKU_00237	10	c.679T>C (Reported 2 times)	r.(?)	p.(Phe227Leu)	F227L	-	missense	Protomer destabilisation/unknown	Kilavuz et al. 2018	-	AKU_DB_345a	substitution	?	-	DNA	SEQ	exon
AKU_00073	10	c.680T>C (Reported 6 times)	r.(?)	p.(Phe227Ser)	F227S	rs1941093400	missense	Protomer destabilisation	de Bernabe et al. (1998)	-	AKU_DB_16a	substitution	(+)TfiI, HinfI	-	DNA	SEQ	exon
AKU_00075	10	c.688C>A	r.(?)	p.(Pro230Thr)	P230T	-	missense	Protomer destabilisation	de Bernabe et al. (1999a)	CCC triplet	AKU_DB_18b	substitution	-	-	DNA	SEQ	exon
AKU_00074	10	c.688C>T (Reported 36 times)	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_DB_1a	substitution	(+)EcoRV	-	DNA	SEQ	exon
AKU_00261	10	c.709C>T	r.(?)	p.(Arg237Cys)	R237C	rs1171237852	missense	-	submitted, Dr. Andrea Zatkova	-	AKU_DB_436a	substitution	?	-	DNA	SEQ	exon
AKU_00172	10	c.733G>T	r.(?)	p.(Val245Phe)	V245F	-	missense	Protomer destabilisation	Usher et al. (2015)	-	AKU_DB_220b	substitution	(+)AflIII, HpyCH4IV;(-)HpyCH4III	-	DNA	SEQ	exon
AKU_00151	10	c.742A>G (Reported 3 times)	r.(?)	p.(Lys248Glu)	K248E	-	missense	Protomer destabilisation	Porfirio et al. (2000)	-	AKU_DB_27b	substitution	-	-	DNA	SEQ	exon
AKU_00156	10	c.752G>A (Reported 6 times)	r.(?)	p.(Gly251Asp)	G251D	rs781011621	missense	Protomer destabilisation	Nemethova et al. (2016)	CCC triplet	AKU_DB_189a	substitution	(-)BsaJI, Cac8I	-	DNA	SEQ	exon
AKU_00221	10	c.753C>T (Reported 10 times)	r.(?)	p.(Gly251Gly)	G251G	-	silent/aberrant splicing (creating novel DS)	-	Soltysova et al. (2021), Bychkov et al. (2021)	-	AKU_DB_287c	substitution	?	-	DNA	SEQ	exon
AKU_00077	10	c.773A>C (Reported 2 times)	r.(?)	p.(Gln258Pro)	Q258P	-	missense	Protomer destabilisation	Phornphutkul et al. (2002)	-	AKU_VIL_44a	substitution	(+)MspI, HpaII, BsaWI	-	DNA	SEQ	exon
AKU_00188	10i	c.774+1G>T	r.(?)	p.(Ala218Cysfs*32)	ivs10+1G>T	-	aberrant splicing (DS)/exon skipping/frameshift?	-	Ascher et al. (2019)	-	AKU_TR2_0324a	substitution	?	-	DNA	SEQ	intron
AKU_00253	10i	c.775-16T>A (Reported 2 times)	r.(?)	p.(?)	ivs10-16T>A	rs995182027	aberrant splicing, creates novel (AS)/frameshift?	-	Danda et al. (2020)	-	AKU_DB_383a	substitution	-	-	DNA	SEQ	intron
AKU_00229	10	c.791A>G	r.(?)	p.(Asn264Ser)	N264S	rs1469714335	missense	Protomer destabilisation	Soltysova et al. (2021)	-	AKU_DB_316b	substitution	?	-	DNA	SEQ	exon
AKU_00213	11	c.775-1915_879+1293del (Reported 3 times)	r.(?)	p.(Val260_Asp294del)	ex11 del	-	deletion	-	Ascher et al. (2019)	-	AKU_TR2_0119c	deletion	-	-	DNA	SEQ, MLPA	intron/exon
AKU_00209	11	c.787T>C (Reported 2 times)	r.(?)	p.(Phe263Leu)	F263L	-	missense	Protomer destabilisation	submitted, Dr. Jeannette Usher	-	AKU_DB_264a	substitution	(-)SfaNI	-	DNA	SEQ	exon
AKU_00179	11	c.800C>T (Reported 2 times)	r.(?)	p.(Ala267Val)	A267V	-	missense	Protomer destabilisation, Hexamer disruption	Ascher et al. (2019)	-	AKU_TR2_0137a	substitution	?	-	DNA	SEQ	exon
AKU_00078	11	c.806A>G	r.(?)	p.(His269Arg)	H269R	rs756522409	missense	Protomer destabilisation, Hexamer disruption	Vilboux et al. (2009)	-	AKU_VIL_96b	substitution	(+)FauI, HinP1I, HhaI, AciI	-	DNA	SEQ	exon
AKU_00079	11	c.808G>A (Reported 42 times)	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_109a	substitution	(+)EcoNI	-	DNA	SEQ	exon
AKU_00263	11	c.815A>G (Reported 2 times)	r.(?)	p.(Tyr272Cys)	Y272C	-	missense	-	submitted, Dr. Andrea Zatkova	-	AKU_DB_438a	substitution	?	-	DNA	SEQ	exon
AKU_00105	11	c.821C>T (Reported 7 times)	r.(?)	p.(Pro274Leu)	P274L	rs1397264922	missense	Protomer destabilisation	Gucev et al. (2011)	CCC triplet	AKU_DB_116b	substitution	-	-	DNA	SEQ	exon
AKU_00142	11	c.828G>C (Reported 3 times)	r.(?)	p.(Lys276Asn)	K276N	-	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_121a	substitution	(-)RsaI	-	DNA	SEQ	exon
AKU_00123	11	c.832A>G	r.(?)	p.(Asn278Asp)	N278D	rs370920635	missense/polymorphism?, found in one normal chromosome	Protomer destabilisation	AKU database	-	AKU_POL_17	substitution	-	-	DNA	SEQ	exon
AKU_00080	11	c.860C>A (Reported 3 times)	r.(?)	p.(Ser287*)	S287*	-	nonsense	-	Zatkova et al. (2012)	-	AKU_DB_108a	substitution	(-)TspRI	-	DNA	SEQ	exon
AKU_00081	11	c.873C>A (Reported 3 times)	r.(?)	p.(Asp291Glu)	D291E	rs754428438	missense	Hexamer disruption	de Bernabe et al. (1999a)	-	AKU_DB_21a	substitution	(+)NspI	-	DNA	SEQ	exon
AKU_00082	11	c.875A>G	r.(?)	p.(His292Arg)	H292R	-	missense	Protomer destabilisation, Hexamer disruption	Rodriguez et al. (2000)	-	AKU_DB_33a	substitution	(+)BsgI; (-)NlaIII	-	DNA	SEQ	exon
AKU_00122	11i	c.879+18A>G	r.(?)	p.(?)	ivs11+18A>G	rs1800700	polymorphism	-	de Bernabe et al. (1999b)	-	AKU_POL_16	substitution	-	0,02(G)	DNA	SEQ	intron
AKU_00083	12	c.899T>G (Reported 28 times)	r.(?)	p.(Val300Gly)	V300G	rs120074170	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	-	AKU_DB_102b	substitution	-	-	DNA	SEQ	exon
AKU_00084	12	c.914C>T	r.(?)	p.(Ser305Phe)	S305F	-	missense	Protomer destabilisation, Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_VIL_93c	substitution	(-)DrdI	-	DNA	SEQ	exon
AKU_00162	12	c.926G>T (Reported 4 times)	r.(?)	p.(Gly309Val)	G309V	-	missense	Hexamer disruption	Nemethova et al. (2016)	-	AKU_DB_194a	substitution	(+)SfcI;(-)BpmI, BsaJI, BssKI, BstNI, PspGI, ScrFI, StyD4I	-	DNA	SEQ	exon
AKU_00238	12	c.946G>A	r.(?)	p.(Val316Ile)	V316I	-	missense	unknown	Akbaba et al. 2020	-	AKU_DB_357b	substitution	?	-	DNA	SEQ	exon
AKU_00085	12	c.961C>T (Reported 2 times)	r.(?)	p.(Arg321*)	R321*	-	nonsense	-	Rodriguez et al. (2000)	CpG	AKU_DB_19b	substitution	(-)TaqI	-	DNA	SEQ	exon

101 - 200
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Click here to save this list in a tab-delimited text file.

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)