View all contents - HGD mutation database - Leiden Open Variation Database

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The variants below are all in the HGD database. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than HGD, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
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.

1497 public entries
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Path.

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

Patient ID

Disease

Reference

Remarks

# Reported

Geographic origin

Patient/Affected_per_Family

Families Patients


+/+?	AKU_00051	08	c.502G>A + c.806A>G	r.(?)	p.(Glu168Lys)	E168K	rs375283568	missense	Hexamer disruption	Higashino et al. (1998)	CpG	AKU_VIL_96b	substitution	-	-	DNA	SEQ	exon	AKU_VIL_96	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00051	08	c.502G>A + c.659G>T	r.(?)	p.(Glu168Lys)	E168K	rs375283568	missense	Hexamer disruption	Higashino et al. (1998)	CpG	AKU_DB_268a	substitution	-	-	DNA	SEQ	exon	AKU_DB_268	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00051	08	c.502G>A + c.502G>A	r.(?)	p.(Glu168Lys)	E168K	rs375283568	missense	Hexamer disruption	Higashino et al. (1998)	CpG	AKU_TR2_0103a	substitution	-	-	DNA	SEQ	exon	AKU_TR2_0103	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Netherland	2	1
+/+?	AKU_00051	08	c.502G>A + c.502G>A	r.(?)	p.(Glu168Lys)	E168K	rs375283568	missense	Hexamer disruption	Higashino et al. (1998)	CpG	AKU_TR2_0103b	substitution	-	-	DNA	SEQ	exon	AKU_TR2_0103	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Netherland	2	1
+/+	AKU_00052	08	c.502G>T + c.447T>A, c.1007-2A>T	r.(?)	p.(Glu168*)	E168*	rs375283568	nonsense	-	Vilboux et al. (2009)	CpG	AKU_VIL_36b	substitution	(+)BfaI	-	DNA	SEQ	exon	AKU_VIL_36	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00208	08	c.502G>T + c.1007-2A>T	r.(?)	p.(Glu168*)	E168*	rs375283568	nonsense	-	submitted, Dr. Jeannette Usher	-	AKU_DB_258a	substitution	-	-	DNA	SEQ	exon	AKU_DB_258	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00053	08	c.504G>C + c.504G>C	r.(?)	p.(Glu168Asp)	E168D	rs780173554	missense	Protomer destabilisation, Hexamer disruption	Phornphutkul et al. (2002)	CpG	AKU_VIL_45a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_45	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA/India	1	1
+/+?	AKU_00053	08	c.504G>C + c.504G>C	r.(?)	p.(Glu168Asp)	E168D	rs780173554	missense	Protomer destabilisation, Hexamer disruption	Phornphutkul et al. (2002)	CpG	AKU_VIL_45b	substitution	-	-	DNA	SEQ	exon	AKU_VIL_45	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA/India	1	1
+/+?	AKU_00053	08	c.504G>C + c.504G>C	r.(?)	p.(Glu168Asp)	E168D	rs780173554	missense	Protomer destabilisation, Hexamer disruption	Phornphutkul et al. (2002)	CpG	AKU_VIL_83a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_83	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA/India	1	1
+/+?	AKU_00053	08	c.504G>C + c.504G>C	r.(?)	p.(Glu168Asp)	E168D	rs780173554	missense	Protomer destabilisation, Hexamer disruption	Phornphutkul et al. (2002)	CpG	AKU_VIL_83b	substitution	-	-	DNA	SEQ	exon	AKU_VIL_83	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA/India	1	1
+/+?	AKU_00053	08	c.504G>C + c.504G>C	r.(?)	p.(Glu168Asp)	E168D	rs780173554	missense	Protomer destabilisation, Hexamer disruption	Phornphutkul et al. (2002)	CpG	AKU_DB_394a	substitution	-	-	DNA	SEQ	exon	AKU_DB_394	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+?	AKU_00053	08	c.504G>C + c.504G>C	r.(?)	p.(Glu168Asp)	E168D	rs780173554	missense	Protomer destabilisation, Hexamer disruption	Phornphutkul et al. (2002)	CpG	AKU_DB_394b	substitution	-	-	DNA	SEQ	exon	AKU_DB_394	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
-?/?	AKU_00144	08	c.507T>G + c.469+2T>C, c.649+31G>A	r.(?)	p.(Phe169Leu)	F169L	rs756134838	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_122b	substitution	-	-	DNA	SEQ	exon	AKU_DB_122	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/?	AKU_00195	08	c.508G>A + c.52G>T	r.(?)	p.(Gly170Ser)	G170S	rs2472701905	missense	Protomer destabilisation, Hexamer disruption	Ascher et al. (2019)	-	AKU_DB_231b	substitution	-	-	DNA	SEQ	exon	AKU_DB_231	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1
+/+	AKU_00187	08	c.509G>C + c.647T>C	r.(?)	p.(Gly170Ala)	G170A	rs2107511857	missense	-	Ascher et al. (2019)	-	AKU_TR2_0331b	substitution	?	-	DNA	SEQ	exon	AKU_TR2_0331	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Algeria/Spain	1	1
+/+?	AKU_00054	08	c.513G>T + c.513G>T	r.(?)	p.(Lys171Asn)	K171N	rs2472701853	missense	Protomer destabilisation	Phornphutkul et al. (2002)	-	AKU_DB_212a	substitution	(-)SfaNI	-	DNA	SEQ	exon	AKU_DB_212	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+?	AKU_00054	08	c.513G>T + c.513G>T	r.(?)	p.(Lys171Asn)	K171N	rs2472701853	missense	Protomer destabilisation	Phornphutkul et al. (2002)	-	AKU_DB_212b	substitution	(-)SfaNI	-	DNA	SEQ	exon	AKU_DB_212	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+?	AKU_00054	08	c.513G>T + c.513G>T	r.(?)	p.(Lys171Asn)	K171N	rs2472701853	missense	Protomer destabilisation	Phornphutkul et al. (2002)	-	AKU_DB_272b	substitution	(-)SfaNI	-	DNA	SEQ	exon	AKU_DB_272	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+?	AKU_00054	08	c.513G>T + c.513G>T	r.(?)	p.(Lys171Asn)	K171N	rs2472701853	missense	Protomer destabilisation	Phornphutkul et al. (2002)	-	AKU_DB_272a	substitution	(-)SfaNI	-	DNA	SEQ	exon	AKU_DB_272	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+?	AKU_00054	08	c.513G>Y (C,T)	r.(?)	p.(Lys171Asn)	K171N	rs2472701853	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_PHO_16	AKU	Phornphutkul et al. (2002), Slovakia (Slovak Republic):Bratislava	?	1	USA	1	1
+/+?	AKU_00169	08	c.515T>C + c.158G>A	r.(?)	p.(Met172Thr)	M172T	rs2472701826	missense	Protomer destabilisation	Usher et al. (2015)	-	AKU_DB_207a	substitution	(+)HgaI;(-)SfaNI	-	DNA	SEQ	exon	AKU_DB_207	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00056	08	c.533A>G + c.481G>A	r.(?)	p.(Glu178Gly)	E178G	rs2472701576	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_93b	substitution	(+)AlwI; (-)BglII	-	DNA	SEQ	exon	AKU_DB_93	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+?	AKU_00056	08	c.533A>G + c.481G>A	r.(?)	p.(Glu178Gly)	E178G	rs2472701576	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_TR2_0223b	substitution	(+)AlwI; (-)BglII	-	DNA	SEQ	exon	AKU_TR2_0223	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Hungary	1	1
+/+?	AKU_00056	08	c.533A>G + c.1006+2T>A	r.(?)	p.(Glu178Gly)	E178G	rs2472701576	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_447a	substitution	(+)AlwI; (-)BglII	-	DNA	NGS	exon	AKU_DB_447	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Germany	1	1
+/+?	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_PHO_17	AKU	Phornphutkul et al. (2002), Slovakia (Slovak Republic):Bratislava	?	1	USA	1	1
+/?	AKU_00231	08	c.536T>G + c.481G>A	r.(?)	p.(Ile179Ser)	I179S	rs1031569954	missense	Protomer destabilisation	Soltysova et al. (2021), Bychkov et al. (2021)	-	AKU_DB_333b	substitution	?	-	DNA	SEQ	exon	AKU_DB_333	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+?	AKU_00057	08	c.541G>T + c.541G>T	r.(?)	p.(Val181Phe)	V181F	rs368256121	missense	Protomer destabilisation	Rodriguez et al. (2000)	CpG	AKU_DB_44a	substitution	(-)HgaI	-	DNA	SEQ	exon	AKU_DB_44	AKU	Rodriguez et al. (2000), Slovakia (Slovak Republic):Bratislava	Homozygot	1	France	1	1
+/+?	AKU_00057	08	c.541G>T + c.541G>T	r.(?)	p.(Val181Phe)	V181F	rs368256121	missense	Protomer destabilisation	Rodriguez et al. (2000)	CpG	AKU_DB_44b	substitution	(-)HgaI	-	DNA	SEQ	exon	AKU_DB_44	AKU	Rodriguez et al. (2000), Slovakia (Slovak Republic):Bratislava	Homozygot	1	France	1	1
+/+?	AKU_00058	08	c.549G>T + c.1102A>G	r.(?)	p.(Gln183Arg)	Q183R	rs759615683	missense	Protomer destabilisation	Vilboux et al. (2009)	-	AKU_VIL_64a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_64	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00059	08i	c.549+1G>A + c.1102A>G	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_VIL_35	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00240	08i	c.549+1G>T + c.549+1G>T	r.(?)	?	ivs8+1G>T	-	aberrant splicing (DS)/exon skipping/frameshift?	-	Kisa et al. (2021)	-	AKU_TU_10a	substitution	?	-	DNA	SEQ	intron	AKU_TU_10	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+?	AKU_00240	08i	c.549+1G>T + c.549+1G>T	r.(?)	?	ivs8+1G>T	-	aberrant splicing (DS)/exon skipping/frameshift?	-	Kisa et al. (2021)	-	AKU_TU_10b	substitution	?	-	DNA	SEQ	intron	AKU_TU_10	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
-?/?	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_POL_35	-	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
+/+	AKU_00060	08i	c.550-2A>C	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_PHO_18	AKU	Phornphutkul et al. (2002), Slovakia (Slovak Republic):Bratislava	?	1	USA	1	1
+/+	AKU_00060	08i	c.550-2A>C + c.365C>T	r.(spl?)	p.(Arg184Glyfs*12)	ivs8-2A>C	-	aberrant splicing (AS)/exon skipping/frameshift?	-	Phornphutkul et al. (2002)	-	AKU_DB_386b	substitution	-	-	DNA	SEQ	intron	AKU_DB_386	AKU	Danda et al. (2020), India:Vellore	Compound heterozygous	1	India	1	1
+/+	AKU_00180	08i	c.550-2A>G + c.54T>A	r.(?)	p.(Arg184Glyfs*12)	ivs8-2A>G	-	aberrant splicing (AS)/exon skipping/frameshift?	-	submitted	-	AKU_TR2_0102a	substitution	?	-	DNA	SEQ	intron	AKU_TR2_0102	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Romania	1	1
+/+?	AKU_00185	09	c.553G>A + c.688C>T	r.(?)	p.(Gly185Arg)	G185R	rs2472698721	missense	Protomer destabilisation, Hexamer disruption	Ascher et al. (2019)	-	AKU_TR2_0321b	substitution	?	-	DNA	SEQ	exon	AKU_TR2_0321	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France/Belgium	1	1
+/+	AKU_00149	09	c.557T>A + c.808G>A	r.(?)	p.(Met186Lys)	M186K	rs1941163113	missense	Protomer destabilisation, Hexamer disruption	Nemethova et al. (2016)	-	AKU_DB_148b	substitution	(-)BsmI	-	DNA	SEQ	exon	AKU_DB_148	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Brasil	1	1
+/+	AKU_00149	09	c.557T>A + c.557T>A	r.(?)	p.(Met186Lys)	M186K	rs1941163113	missense	Protomer destabilisation, Hexamer disruption	Nemethova et al. (2016)	-	AKU_DB_403a	substitution	(-)BsmI	-	DNA	SEQ	exon	AKU_DB_403	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+	AKU_00149	09	c.557T>A + c.557T>A	r.(?)	p.(Met186Lys)	M186K	rs1941163113	missense	Protomer destabilisation, Hexamer disruption	Nemethova et al. (2016)	-	AKU_DB_403b	substitution	(-)BsmI	-	DNA	SEQ	exon	AKU_DB_403	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+?	AKU_00061	09	c.559C>G + c.481G>A	r.(?)	p.(Arg187Gly)	R187G	rs756255206	missense	Protomer destabilisation	Vilboux et al. (2009)	CpG	AKU_VIL_23b	substitution	(-)BsmI, AciI	-	DNA	SEQ	exon	AKU_VIL_23	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00062	09	c.566G>T + c.566G>T	r.(?)	p.(Ser189Ile)	S189I	rs2107510544	missense	unknown	de Bernabe et al. (1998)	-	AKU_DB_4a	substitution	-	-	DNA	SEQ	exon	AKU_DB_4	AKU	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Algeria	2	1
+/+	AKU_00062	09	c.566G>T + c.566G>T	r.(?)	p.(Ser189Ile)	S189I	rs2107510544	missense	unknown	de Bernabe et al. (1998)	-	AKU_DB_4b	substitution	-	-	DNA	SEQ	exon	AKU_DB_4	AKU	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Algeria	2	1
+/+?	AKU_00249	09	c.587C>T + c.291G>A	r.(?)	p.(Thr196Ile)	T196I	rs781491692	missense	?	Lee et al. (2022)	-	AKU_DB_422b	substitution	?	-	DNA	SEQ	exon	AKU_DB_422	AKU	Lee et al. (2022), Taiwan:Taipei	Compound heterozygous	1	Taiwan	1	1
+/+	AKU_00063	09	c.588delC + c.588delC	r.(?)	p.(Arg197Glyfs*32)	R197fs (T196fs)	rs1414279737	frameshift	-	Rodriguez et al. (2000)	-	AKU_DB_46a	deletion	(-)BstNI, BsaI, ScrFI	-	DNA	SEQ	exon	AKU_DB_46	AKU	Rodriguez et al. (2000), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Portugal	1	1
+/+	AKU_00063	09	c.588delC + c.588delC	r.(?)	p.(Arg197Glyfs*32)	R197fs (T196fs)	rs1414279737	frameshift	-	Rodriguez et al. (2000)	-	AKU_DB_46b	deletion	(-)BstNI, BsaI, ScrFI	-	DNA	SEQ	exon	AKU_DB_46	AKU	Rodriguez et al. (2000), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Portugal	1	1
+/+	AKU_00063	09	c.588delC + c.808G>A	r.(?)	p.(Arg197Glyfs*32)	R197fs (T196fs)	rs1414279737	frameshift	-	Rodriguez et al. (2000)	-	AKU_TR3_0127b	deletion	(-)BstNI, BsaI, ScrFI	-	DNA	SEQ	exon	AKU_TR3_0127	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Portugal	1	1
+/+?	AKU_00141	09	c.589A>G + c.359G>T	r.(?)	p.(Arg197Gly)	R197G	rs1414279737	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_120b	substitution	(+)MspI, HpaII; (-)BstNI	-	DNA	SEQ	exon	AKU_DB_120	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	2	1
+/+?	AKU_00064	09	c.593G>A + c.593G>A	r.(?)	p.(Gly198Asp)	G198D	rs199536408	missense	Protomer destabilisation	Mannoni et al. (2004)	CCC triplet	AKU_MAN_1a	substitution	(+)BsmFI	-	DNA	SEQ	exon	AKU_MAN_1	AKU	Mannoni et al. (2004), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+?	AKU_00064	09	c.593G>A + c.593G>A	r.(?)	p.(Gly198Asp)	G198D	rs199536408	missense	Protomer destabilisation	Mannoni et al. (2004)	CCC triplet	AKU_MAN_1b	substitution	(+)BsmFI	-	DNA	SEQ	exon	AKU_MAN_1	AKU	Mannoni et al. (2004), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+?	AKU_00153	09	c.614G>A + c.1102A>G	r.(?)	p.(Gly205Asp)	G205D	rs754802510	missense	Protomer destabilisation	Nemethova et al. (2016)	-	AKU_DB_174a	substitution	?	-	DNA	SEQ	exon	AKU_DB_174	AKU	Nemethova et al. (2016), Italy:Florence	Compound heterozygous	1	Italy	1	1
+/+	AKU_00186	09	c.614G>T + c.175delA	r.(?)	p.(Gly205Val)	G205V	rs754802510	missense	-	Ascher et al. (2019)	-	AKU_TR2_0327b	substitution	?	-	DNA	SEQ	exon	AKU_TR2_0327	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	1	1
+/+	AKU_00065	09	c.647T>C + c.(?)	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_DB_12	AKU	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Spain	1	1
+/+	AKU_00065	09	c.647T>C + c.509G>C	r.(?)	p.(Ile216Thr)	I216T	rs767201131	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_TR2_0331a	substitution	(-)MfeI; (+)BsrI	-	DNA	SEQ	exon	AKU_TR2_0331	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Algeria/Spain	1	1
+/+	AKU_00065	09	c.647T>C + c.1078G>C	r.(?)	p.(Ile216Thr)	I216T	rs767201131	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_TR2_0135b	substitution	(-)MfeI; (+)BsrI	-	DNA	SEQ	exon	AKU_TR2_0135	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	2	1
+/+	AKU_00065	09	c.647T>C + c.674G>C	r.(?)	p.(Ile216Thr)	I216T	rs767201131	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_TR2_0126a	substitution	(-)MfeI; (+)BsrI	-	DNA	SEQ	exon	AKU_TR2_0126	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Spain	1	1
+/+?	AKU_00066	09	c.649G>T + c.175delA	r.(?)	p.(Gly217Trp)	G217W	rs2472697718	missense	Protomer destabilisation, Hexamer disruption	Vilboux et al. (2009)	-	AKU_VIL_27b	substitution	(-)MfeI	-	DNA	SEQ	exon	AKU_VIL_27	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00066	09	c.649G>T + c.175delA	r.(?)	p.(Gly217Trp)	G217W	rs2472697718	missense	Protomer destabilisation, Hexamer disruption	Vilboux et al. (2009)	-	AKU_DB_129b	deletion	(-)MfeI	-	DNA	SEQ	exon	AKU_DB_129	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00255	09i	c.649+1G>A + c.(?)	r.(?)	p.(Arg184Glyfs*12)?	ivs9+1G>A	-	aberrant splicing (DS)/exon skipping	-	Bychkov et al. (2021)	-	AKU_DB_407a	substitution	-	-	DNA	SEQ	intron	AKU_DB_407	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00211	09i	c.649+2T>C + c.649+2T>C	r.(?)	p.(?)	ivs9+2T>C	rs1057516307	aberrant splicing (DS)/exon skipping/frameshift	-	submitted, Dr. Andrea Zatkova	-	AKU_DB_276a	substitution	-	-	DNA	SEQ	intron	AKU_DB_276	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+	AKU_00211	09i	c.649+2T>C + c.649+2T>C	r.(?)	p.(?)	ivs9+2T>C	rs1057516307	aberrant splicing (DS)/exon skipping/frameshift	-	submitted, Dr. Andrea Zatkova	-	AKU_DB_276b	substitution	-	-	DNA	SEQ	intron	AKU_DB_276	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+	AKU_00211	09i	c.649+2T>C + c.16-1G>A	r.(?)	p.(?)	ivs9+2T>C	rs1057516307	aberrant splicing (DS)/exon skipping/frameshift	-	submitted, Dr. Andrea Zatkova	-	AKU_DB_431a	substitution	-	-	DNA	SEQ	intron	AKU_DB_431	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1
-?/?	AKU_00189	09i	c.649+31G>A + c.469+2T>C, c.507T>G	r.(?)	p.(?)	ivs9+31G>A	rs376223608	polymorphism	-	Usher et al. (2015)	-	AKU_DB_122c	substitution	-	-	DNA	SEQ	intron	AKU_DB_122	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00190	09i	c.649+39T>G + c.899T>G	r.(?)	p.(?)	ivs9+39T>G	-	aberrant splicing/creates de novo 5' ss+39/intron 9 inclusion (splicing minigene experiment)	-	Usher et al. (2015)	-	AKU_DB_131b	substitution	-	-	DNA	SEQ	intron	AKU_DB_131	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00190	09i	c.649+39T>G + c.664_674dup	r.(?)	p.(?)	ivs9+39T>G	-	aberrant splicing/creates de novo 5' ss+39/intron 9 inclusion (splicing minigene experiment)	-	Usher et al. (2015)	-	AKU_DB_219a	substitution	-	-	DNA	SEQ	intron	AKU_DB_219	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
-?/?	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_POL_27	-	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
-?/?	AKU_00217	09i	c.650-87A>G + c.650-87A>G	r.(spl?)	p.(?)	ivs9-87A>G	-	aberrant splicing/CR 3? ss-176 activation/reduced exon inclusion (splicing minigene experiment)	-	submitted, Dr. Andrea Zatkova	-	AKU_DB_457a	substitution	-	-	DNA	SEQ	intron	AKU_DB_457	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Turkey	1	1
-?/?	AKU_00217	09i	c.650-87A>G + c.650-87A>G	r.(spl?)	p.(?)	ivs9-87A>G	-	aberrant splicing/CR 3? ss-176 activation/reduced exon inclusion (splicing minigene experiment)	-	submitted, Dr. Andrea Zatkova	-	AKU_DB_457b	substitution	-	-	DNA	SEQ	intron	AKU_DB_457	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Turkey	1	1
-?/?	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_POL_28	-	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
+/+?	AKU_00267	09i	c.650-85A>G + c.175delA, c.175delA, c.650-85A>G	r.(?)	p.(?)	ivs9-85A>G	rs2075504	polymorphism (splicing minigene experiment)	-	Nemethova et al. (2016); Ascher et al. (2019)	-	AKU_DB_183c	substitution	-	-	DNA	SEQ	intron	AKU_DB_183	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	India	1	1
+/+?	AKU_00267	09i	c.650-85A>G + c.175delA, c.175delA, c.650-85A>G	r.(?)	p.(?)	ivs9-85A>G	rs2075504	polymorphism (splicing minigene experiment)	-	Nemethova et al. (2016); Ascher et al. (2019)	-	AKU_DB_183d	substitution	-	-	DNA	SEQ	intron	AKU_DB_183	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	India	1	1
-?/?	AKU_00067	09i	c.650-56G>A + c.650-17G>A	r.(spl?)	p.(?)	ivs9-56G>A	-	aberrant splicing/exon inclusion decreased/use of a CR 3? ss-176 (splicing minigene experiment)	-	de Bernabe et al. (1998)	CCC triplet	AKU_DB_10a	substitution	-	-	DNA	SEQ	intron	AKU_DB_10	AKU	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	2	1
-?/?	AKU_00067	09i	c.650-56G>A + c.1007-1709_1188+1121del	r.(spl?)	p.(?)	ivs9-56G>A	-	aberrant splicing/exon inclusion decreased/use of a CR 3? ss-176 (splicing minigene experiment)	-	de Bernabe et al. (1998)	CCC triplet	AKU_DB_11a	substitution	-	-	DNA	SEQ	intron	AKU_DB_11	AKU	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France/Italy	2	1
-?/?	AKU_00067	09i	c.650-56G>A + c.37G>A	r.(spl?)	p.(?)	ivs9-56G>A	-	aberrant splicing/exon inclusion decreased/use of a CR 3? ss-176 (splicing minigene experiment)	-	de Bernabe et al. (1998)	CCC triplet	AKU_DB_246a	substitution	-	-	DNA	SEQ	intron	AKU_DB_246	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1
-?/?	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_POL_15	-	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
-?/?	AKU_00068	09i	c.650-17G>A + c.650-56G>A	r.(spl?)	p.(?)	ivs9-17G>A	-	aberrant splicing/almost complete exon skipping (splicing minigene experiment)	-	de Bernabe et al. (1998)	CCC triplet	AKU_DB_10b	substitution	-	-	DNA	SEQ	intron	AKU_DB_10	AKU	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	2	1
+/+?	AKU_00193	09i	c.650-13T>G + c.343-11G>A, c.343-11G>A, c.650-13T>G	r.(?)	p.(?)	ivs9-13T>G	-	aberrant splicing/reduced exon inclusion/CR 3? ss-176 activation (splicing minigene experiment)	-	Ascher et al. (2019)	-	AKU_TR2_0332a	substitution	-	-	DNA/RNA	SEQ	intron	AKU_TR_0332	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Mali	1	1
+/+?	AKU_00193	09i	c.650-13T>G + c.343-11G>A, c.343-11G>A, c.650-13T>G	r.(?)	p.(?)	ivs9-13T>G	-	aberrant splicing/reduced exon inclusion/CR 3? ss-176 activation (splicing minigene experiment)	-	Ascher et al. (2019)	-	AKU_TR2_0332b	substitution	-	-	DNA/RNA	SEQ	intron	AKU_TR_0332	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Mali	1	1
+/+	AKU_00069	10	c.652delG + c.(?)	r.(?)	p.(Ala218Profs*11)	A218fs (G217fs)	rs916645169	frameshift	-	Ladjouze-Rezig et al. (2006)	CCC triplet	AKU_DB_83a	deletion	(-)NlaIV	-	DNA	SEQ	exon	AKU_DB_83	AKU	Rodriguez et al. (2000), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Algeria	1	1
+/+	AKU_00069	10	c.652delG + c.457dupG	r.(?)	p.(Ala218Profs*11)	A218fs (G217fs)	rs916645169	frameshift	-	Ladjouze-Rezig et al. (2006)	CCC triplet	AKU_DB_97b	deletion	(-)NlaIV	-	DNA	SEQ	exon	AKU_DB_97	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France/Algeria	1	1
+/+	AKU_00069	10	c.652delG + c.652delG	r.(?)	p.(Ala218Profs*11)	A218fs (G217fs)	rs916645169	frameshift	-	Ladjouze-Rezig et al. (2006)	CCC triplet	AKU_DB_278a	deletion	(-)NlaIV	-	DNA	SEQ	exon	AKU_DB_278	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	France/Algeria	1	1
+/+	AKU_00069	10	c.652delG + c.652delG	r.(?)	p.(Ala218Profs*11)	A218fs (G217fs)	rs916645169	frameshift	-	Ladjouze-Rezig et al. (2006)	CCC triplet	AKU_DB_278b	deletion	(-)NlaIV	-	DNA	SEQ	exon	AKU_DB_278	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	France/Algeria	1	1
+/+?	AKU_00070	10	c.656A>G + c.656A>G	r.(?)	p.(Asn219Ser)	N219S	rs2472690374	missense	Hexamer disruption	Zatkova et al. (2012)	-	AKU_DB_98a	substitution	(+)BsrI, TspRI	-	DNA	SEQ	exon	AKU_DB_98	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Turkey	2	1
+/+?	AKU_00070	10	c.656A>G + c.656A>G	r.(?)	p.(Asn219Ser)	N219S	rs2472690374	missense	Hexamer disruption	Zatkova et al. (2012)	-	AKU_DB_98b	substitution	(+)BsrI, TspRI	-	DNA	SEQ	exon	AKU_DB_98	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Turkey	2	1
+/+?	AKU_00070	10	c.656A>G + c.656A>G	r.(?)	p.(Asn219Ser)	N219S	rs2472690374	missense	Hexamer disruption	Zatkova et al. (2012)	-	AKU_DB_208a	substitution	(+)BsrI, TspRI	-	DNA	SEQ	exon	AKU_DB_208	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+?	AKU_00070	10	c.656A>G + c.656A>G	r.(?)	p.(Asn219Ser)	N219S	rs2472690374	missense	Hexamer disruption	Zatkova et al. (2012)	-	AKU_DB_208b	substitution	(+)BsrI, TspRI	-	DNA	SEQ	exon	AKU_DB_208	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+?	AKU_00070	10	c.656A>G + c.656A>G	r.(?)	p.(Asn219Ser)	N219S	rs2472690374	missense	Hexamer disruption	Zatkova et al. (2012)	-	AKU_DB_361a	substitution	(+)BsrI, TspRI	-	DNA	SEQ	exon	AKU_DB_361	AKU	Akbaba et al. 2020, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Turkey	2	1
+/+?	AKU_00070	10	c.656A>G + c.656A>G	r.(?)	p.(Asn219Ser)	N219S	rs2472690374	missense	Hexamer disruption	Zatkova et al. (2012)	-	AKU_DB_361b	substitution	(+)BsrI, TspRI	-	DNA	SEQ	exon	AKU_DB_361	AKU	Akbaba et al. 2020, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Turkey	2	1
+/+?	AKU_00070	10	c.656A>G + c.656A>G	r.(?)	p.(Asn219Ser)	N219S	rs2472690374	missense	Hexamer disruption	Zatkova et al. (2012)	-	AKU_DB_364a	substitution	(+)BsrI, TspRI	-	DNA	SEQ	exon	AKU_DB_364	AKU	Akbaba et al. 2020, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Turkey	2	1
+/+?	AKU_00070	10	c.656A>G + c.656A>G	r.(?)	p.(Asn219Ser)	N219S	rs2472690374	missense	Hexamer disruption	Zatkova et al. (2012)	-	AKU_DB_364b	substitution	(+)BsrI, TspRI	-	DNA	SEQ	exon	AKU_DB_364	AKU	Akbaba et al. 2020, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Turkey	2	1
+/+?	AKU_00203	10	c.656_657insAATCAA + c.1201G>C	r.(?)	p.(Ala218_Asn219insLysIle)	A218_N219insKI	rs2472690386	insertion inframe	-	Ascher et al. (2019)	-	AKU_DB_245b	insertion	-	-	DNA	SEQ	exon	AKU_DB_245	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1
+/+?	AKU_00203	10	c.656_657insAATCAA + c.656_657insAATCAA	r.(?)	p.(Ala218_Asn219insLysIle)	A218_N219insKI	rs2472690386	insertion inframe	-	Ascher et al. (2019)	-	AKU_DB_356a	insertion	-	-	DNA	SEQ	exon	AKU_DB_356	AKU	Akbaba et al. 2020, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Turkey	1	1
+/+?	AKU_00203	10	c.656_657insAATCAA + c.656_657insAATCAA	r.(?)	p.(Ala218_Asn219insLysIle)	A218_N219insKI	rs2472690386	insertion inframe	-	Ascher et al. (2019)	-	AKU_DB_356b	insertion	-	-	DNA	SEQ	exon	AKU_DB_356	AKU	Akbaba et al. 2020, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Turkey	1	1
+/+?	AKU_00210	10	c.659G>T + c.502G>A	r.(?)	p.(Gly220Val)	G220V	rs2472690332	missense	Hexamer disruption	submitted, Dr. Jeannette Usher	-	AKU_DB_268b	substitution	-	-	DNA	SEQ	exon	AKU_DB_268	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00171	10	c.664_674dup + c.649+39T>G	r.(?)	p.(Asp226Profs*7)	D226fs	rs2472690163	frameshift	-	Usher et al. (2015)	-	AKU_DB_219b	insertion	(+)BsaJI, NmeAIII	-	DNA	SEQ	exon	AKU_DB_219	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/?	AKU_00233	10	c.665C>A + c.665C>A	r.(?)	p.(Ala222Asp)	A222D	rs1576294110	missense	Protomer destabilisation	Soltysova et al. (2021), Bychkov et al. (2021)	-	AKU_DB_337a	substitution	?	-	DNA	SEQ	exon	AKU_DB_337	AKU	Bychkov et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/?	AKU_00233	10	c.665C>A + c.665C>A	r.(?)	p.(Ala222Asp)	A222D	rs1576294110	missense	Protomer destabilisation	Soltysova et al. (2021), Bychkov et al. (2021)	-	AKU_DB_337b	substitution	?	-	DNA	SEQ	exon	AKU_DB_337	AKU	Bychkov et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+?	AKU_00254	10	c.673C>T + c.365C>T	r.(?)	p.(Arg225Cys)	R225C	rs756789146	missense	?	Mwafi et al. 2021	-	AKU_DB_384b	substitution	?	-	DNA	SEQ	exon	AKU_DB_384	AKU	Mwafi et al. 2021, Jordan:Al-Karak	Compound heterozygous	1	Jordan	2	1
+/+?	AKU_00254	10	c.673C>T + c.673C>T	r.(?)	p.(Arg225Cys)	R225C	rs756789146	missense	?	Mwafi et al. 2021	-	AKU_DB_384b	substitution	?	-	DNA	SEQ	exon	AKU_DB_384	AKU	Mwafi et al. 2021, Jordan:Al-Karak	Compound heterozygous	1	Jordan	2	1
+/+?	AKU_00254	10	c.673C>T + c.673C>T	r.(?)	p.(Arg225Cys)	R225C	rs756789146	missense	?	Mwafi et al. 2021	-	AKU_DB_384c	substitution	?	-	DNA	SEQ	exon	AKU_DB_384	AKU	Mwafi et al. 2021, Jordan:Al-Karak	Compound heterozygous	1	Jordan	2	1

901 - 1000
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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, CR= cryptic, 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.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. 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. Patient ID: Internal reference to the patient. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the patient, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported Geographic origin: Geographic origin of patient Patient/Affected_per_Family: Number of patients per family Families Patients: test

HGD mutation database

homogentisate 1,2-dioxygenase (HGD)