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.

1451 public entries
entries per page

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_00042	07	c.457dupG + c.1102A>G	r.(?)	p.(Asp153Glyfs*26)	D153fs (G152fs)	rs397515346	frameshift	-	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0317b	insertion	-	-	DNA	SEQ	exon	AKU_TR2_0317	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France/Vietnam	2	1
+/+	AKU_00042	07	c.457dupG + c.457dupG	r.(?)	p.(Asp153Glyfs*26)	D153fs (G152fs)	rs397515346	frameshift	-	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0204a	insertion	-	-	DNA	SEQ	exon	AKU_TR2_0204	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00042	07	c.457dupG + c.457dupG	r.(?)	p.(Asp153Glyfs*26)	D153fs (G152fs)	rs397515346	frameshift	-	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0204b	insertion	-	-	DNA	SEQ	exon	AKU_TR2_0204	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00042	07	c.457dupG + c.688C>T	r.(?)	p.(Asp153Glyfs*26)	D153fs (G152fs)	rs397515346	frameshift	-	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0219a	insertion	-	-	DNA	SEQ	exon	AKU_TR2_0219	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00042	07	c.457dupG + c.457dupG	r.(?)	p.(Asp153Glyfs*26)	D153fs (G152fs)	rs397515346	frameshift	-	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0226a	insertion	-	-	DNA	SEQ	exon	AKU_TR2_0226	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00042	07	c.457dupG + c.457dupG	r.(?)	p.(Asp153Glyfs*26)	D153fs (G152fs)	rs397515346	frameshift	-	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0226b	insertion	-	-	DNA	SEQ	exon	AKU_TR2_0226	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00042	07	c.457dupG + c.1112A>G	r.(?)	p.(Asp153Glyfs*26)	D153fs (G152fs)	rs397515346	frameshift	-	Gehrig et al. (1997)	CCC triplet	AKU_DB_318a	insertion	-	-	DNA	SEQ	exon	AKU_DB_318	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00042	07	c.457dupG + c.481G>A	r.(?)	p.(Asp153Glyfs*26)	D153fs (G152fs)	rs397515346	frameshift	-	Gehrig et al. (1997)	CCC triplet	AKU_DB_370a	insertion	-	-	DNA	SEQ	exon	AKU_DB_370	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00205	07	c.457G>A + c.125A>C	r.(?)	p.(Asp153Asn)	D153N	-	missense	Protomer destabilisation	submitted, Dr. Jeannette Usher	CCC triplet	AKU_DB_253a	substitution	?	-	DNA	SEQ	exon	AKU_DB_253	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00043	07	c.458A>G + c.(?)	r.(?)	p.(Asp153Gly)	D153G	-	missense	Protomer destabilisation	de Bernabe et al. (1998)	CCC triplet	AKU_DB_13a	substitution	(-)BsmFI	-	DNA	SEQ	exon	AKU_DB_13	AKU	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	1	1
+/+	AKU_00043	07	c.458A>G + c.875A>G	r.(?)	p.(Asp153Gly)	D153G	-	missense	Protomer destabilisation	de Bernabe et al. (1998)	CCC triplet	AKU_DB_33b	substitution	(-)BsmFI	-	DNA	SEQ	exon	AKU_DB_33	AKU	Rodriguez et al. (2000), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	1	1
+/+	AKU_00043	07	c.458A>G + c.961C>T	r.(?)	p.(Asp153Gly)	D153G	-	missense	Protomer destabilisation	de Bernabe et al. (1998)	CCC triplet	AKU_TR2_0138b	substitution	(-)BsmFI	-	DNA	SEQ	exon	AKU_TR2_0138	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	1	1
+/+	AKU_00043	07	c.458A>G + c.481G>A	r.(?)	p.(Asp153Gly)	D153G	-	missense	Protomer destabilisation	de Bernabe et al. (1998)	CCC triplet	AKU_DB_321b	substitution	(-)BsmFI	-	DNA	SEQ	exon	AKU_DB_321	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00206	07	c.469G>T + c.469G>T	r.(?)	p.(Val157Phe)	V157F	-	missense	Protomer destabilisation	submitted, Dr. Jeannette Usher	-	AKU_DB_254a	substitution	?	-	DNA	SEQ	exon	AKU_DB_254	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00206	07	c.469G>T + c.469G>T	r.(?)	p.(Val157Phe)	V157F	-	missense	Protomer destabilisation	submitted, Dr. Jeannette Usher	-	AKU_DB_254b	substitution	?	-	DNA	SEQ	exon	AKU_DB_254	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00206	07	c.469G>T + c.808G>A	r.(?)	p.(Val157Phe)	V157F	-	missense	Protomer destabilisation	submitted, Dr. Jeannette Usher	-	AKU_DB_405a	substitution	?	-	DNA	SEQ	exon	AKU_DB_405	AKU	Danda et al. (2020), India:Vellore	Compound heterozygous	1	India	1	1
+/+	AKU_00158	07i	c.469+1G>C + c.986T>G	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_DB_163	AKU	Yang et al. (2013), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	China	1	1
+/+	AKU_00044	07i	c.469+2T>C + c.1102A>G	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_DB_96	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	1	1
+/+	AKU_00044	07i	c.469+2T>C + c.1102A>G	r.(spl?)	p.(Arg145Serfs*22)	ivs7+2T>C	rs745333667	aberrant splicing (DS)/exon skipping/frameshift?	-	Phornphutkul et al. (2002)	-	AKU_VIL_1a	substitution	-	-	DNA	SEQ	intron	AKU_VIL_1	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00044	07i	c.469+2T>C + c.507T>G, c.649+31G>A	r.(spl?)	p.(Arg145Serfs*22)	ivs7+2T>C	rs745333667	aberrant splicing (DS)/exon skipping/frameshift?	-	Phornphutkul et al. (2002)	-	AKU_DB_122a	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_00044	07i	c.469+2T>C + c.1007-1709_1188+1121del	r.(spl?)	p.(Arg145Serfs*22)	ivs7+2T>C	rs745333667	aberrant splicing (DS)/exon skipping/frameshift?	-	Phornphutkul et al. (2002)	-	AKU_DB_170a	substitution	-	-	DNA	SEQ	intron	AKU_DB_170	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1
+/+	AKU_00044	07i	c.469+2T>C + c.457dupG	r.(spl?)	p.(Arg145Serfs*22)	ivs7+2T>C	rs745333667	aberrant splicing (DS)/exon skipping/frameshift?	-	Phornphutkul et al. (2002)	-	AKU_DB_179a	substitution	-	-	DNA	SEQ	intron	AKU_DB_179	AKU	Nemethova et al. (2016), France:Marseilles	Compound heterozygous	1	France	1	1
+/+	AKU_00044	07i	c.469+2T>C + c.1102A>G	r.(spl?)	p.(Arg145Serfs*22)	ivs7+2T>C	rs745333667	aberrant splicing (DS)/exon skipping/frameshift	-	Phornphutkul et al. (2002)	-	AKU_DB_267b	substitution	-	-	DNA	SEQ	intron	AKU_DB_267	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00045	07i	c.469+5G>A + c.742A>G	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_DB_27	AKU	Porfirio et al. (2000), Italy:Florence	Compound heterozygous	1	Italy	1	1
+/+	AKU_00045	07i	c.469+5G>A + c.469+5G>A	r.(spl?)	p.(Arg145Serfs*22)	ivs7+5G>A	-	aberrant splicing (DS)/exon skipping/frameshift?	-	Porfirio et al. (2000)	-	AKU_DB_164a	substitution	-	-	DNA	SEQ	intron	AKU_DB_164	AKU	Nemethova et al. (2016), Italy:Roma	Homozygot	1	Italy	2	1
+/+	AKU_00045	07i	c.469+5G>A + c.469+5G>A	r.(spl?)	p.(Arg145Serfs*22)	ivs7+5G>A	-	aberrant splicing (DS)/exon skipping/frameshift?	-	Porfirio et al. (2000)	-	AKU_DB_164b	substitution	-	-	DNA	SEQ	intron	AKU_DB_164	AKU	Nemethova et al. (2016), Italy:Roma	Homozygot	1	Italy	2	1
+/+	AKU_00045	07i	c.469+5G>A + c.469+5G>A	r.(spl?)	p.(Arg145Serfs*22)	ivs7+5G>A	-	aberrant splicing (DS)/exon skipping/frameshift?	-	Porfirio et al. (2000)	-	AKU_DB_182a	substitution	-	-	DNA	SEQ	intron	AKU_DB_182	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+	AKU_00045	07i	c.469+5G>A + c.469+5G>A	r.(spl?)	p.(Arg145Serfs*22)	ivs7+5G>A	-	aberrant splicing (DS)/exon skipping/frameshift?	-	Porfirio et al. (2000)	-	AKU_DB_182b	substitution	-	-	DNA	SEQ	intron	AKU_DB_182	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+	AKU_00159	07i	c.469+6T>C + c.469+6T>C	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_DB_186	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	India	1	1
+/+	AKU_00159	07i	c.469+6T>C + c.469+6T>C	r.(spl?)	p.(Arg145Serfs*22)	ivs7+6T>C	-	aberrant splicing (DS)/exon skipping, frameshift?	-	Nemethova et al. (2016)	-	AKU_DB_186b	substitution	-	-	DNA	SEQ	intron	AKU_DB_186	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	India	1	1
+/+	AKU_00159	07i	c.469+6T>C + c.469+6T>C	r.(spl?)	p.(Arg145Serfs*22)	ivs7+6T>C	-	aberrant splicing (DS)/exon skipping, frameshift?	-	Nemethova et al. (2016)	-	AKU_DB_187a	substitution	-	-	DNA	SEQ	intron	AKU_DB_187	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	India	1	1
+/+	AKU_00159	07i	c.469+6T>C + c.469+6T>C	r.(spl?)	p.(Arg145Serfs*22)	ivs7+6T>C	-	aberrant splicing (DS)/exon skipping, frameshift?	-	Nemethova et al. (2016)	-	AKU_DB_187b	substitution	-	-	DNA	SEQ	intron	AKU_DB_187	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	India	1	1
+/+	AKU_00159	07i	c.469+6T>C + c.469+6T>C	r.(spl?)	p.(Arg145Serfs*22)	ivs7+6T>C	-	aberrant splicing (DS)/exon skipping, frameshift?	-	Nemethova et al. (2016)	-	AKU_DB_389a	substitution	-	-	DNA	SEQ	intron	AKU_DB_389	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+	AKU_00159	07i	c.469+6T>C + c.469+6T>C	r.(spl?)	p.(Arg145Serfs*22)	ivs7+6T>C	-	aberrant splicing (DS)/exon skipping, frameshift?	-	Nemethova et al. (2016)	-	AKU_DB_389b	substitution	-	-	DNA	SEQ	intron	AKU_DB_389	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
-?/?	AKU_00131	07i	c.469+24C>A	r.(?)	p.(?)	ivs7+24C>A	rs756912701	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_25	substitution	-	0,013(A)	DNA	SEQ	intron	AKU_POL_25	-	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
-?/?	AKU_00262	07i	c.469+24C>A + c.709C>T	r.(?)	p.(?)	ivs7+24C>A	rs756912701	polymorphism?/aberrant splicing?	-	submitted, Dr. Andrea Zatkova	-	AKU_DB_436b	substitution	?	-	DNA	SEQ	exon	AKU_DB_436	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Ireland	1	1
+/?	AKU_00225	07i	c.470-1G>A + c.481G>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_DB_296	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00046	08	c.470-1_470insA + c.481G>A	r.(?)	p.(Val157Aspfs*22)	V157fs	-	frameshift	-	Zatkova et al. (2012)	-	AKU_DB_110b	insertion	-	-	DNA	SEQ	exon	AKU_DB_110	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France/Bosnia	1	1
+/+?	AKU_00145	08	c.472_496del + c.342+1G>T	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_DB_123	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	2	1
+/+?	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_PHO_13	AKU	Phornphutkul et al. (2002), Slovakia (Slovak Republic):Bratislava	?	1	USA	1	1
+/+?	AKU_00048	08	c.473C>T + c.175delA	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_VIL_3	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00048	08	c.473C>T + c.821C>T	r.(?)	p.(Pro158Leu)	P158L	rs375396766	missense	Protomer destabilisation	Vilboux et al. (2009)	CpG	AKU_DB_116a	substitution	(+)PstI, SfcI; (-)BslI, AciI	-	DNA	SEQ	exon	AKU_DB_116	AKU	Gucev et al. (2011), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Macedonia	1	1
+/+?	AKU_00048	08	c.473C>T + c.175delA	r.(?)	p.(Pro158Leu)	P158L	rs375396766	missense	Protomer destabilisation	Vilboux et al. (2009)	CpG	AKU_DB_197b	substitution	(+)PstI, SfcI; (-)BslI, AciI	-	DNA	SEQ	exon	AKU_DB_197	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Canada	1	1
+/+?	AKU_00048	08	c.473C>T + c.1031delG	r.(?)	p.(Pro158Leu)	P158L	rs375396766	missense	Protomer destabilisation	Vilboux et al. (2009)	CpG	AKU_DB_423a	substitution	(+)PstI, SfcI; (-)BslI, AciI	-	DNA	SEQ	exon	AKU_DB_423	AKU	Lee et al. (2022), Taiwan:Taipei	Compound heterozygous	1	Taiwan	1	1
+/+?	AKU_00048	08	c.473C>T + c.473C>T	r.(?)	p.(Pro158Leu)	P158L	rs375396766	missense	Protomer destabilisation	Vilboux et al. (2009)	CpG	AKU_DB_443a	substitution	(+)PstI, SfcI; (-)BslI, AciI	-	DNA	SEQ	exon	AKU_DB_443	AKU	Abdelkhalek et al. (2023), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Egypt	1	1
+/+?	AKU_00048	08	c.473C>T + c.473C>T	r.(?)	p.(Pro158Leu)	P158L	rs375396766	missense	Protomer destabilisation	Vilboux et al. (2009)	CpG	AKU_DB_443b	substitution	(+)PstI, SfcI; (-)BslI, AciI	-	DNA	SEQ	exon	AKU_DB_443	AKU	Abdelkhalek et al. (2023), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Egypt	1	1
-?/?	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_POL_26	-	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
+/+?	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_PHO_14	AKU	Phornphutkul et al. (2002), Slovakia (Slovak Republic):Bratislava	?	1	USA	1	1
+/+	AKU_00050	08	c.481G>A + c.457dupG	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_101b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_101	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.899T>G	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_102a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_102	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_104a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_104	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	4	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_104b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_104	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	4	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_104c	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_104	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	4	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_104d	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_104	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	4	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_105a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_105	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_105b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_105	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_106a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_106	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_106b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_106	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.470-1_470insA	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_110a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_110	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France/Bosnia	1	1
+/+	AKU_00050	08	c.481G>A + c.342+1G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_41b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_41	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.157C>T	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_45b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_45	AKU	Rodriguez et al. (2000), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00050	08	c.481G>A + c.16-1G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_53d	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_53	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	7	1
+/+	AKU_00050	08	c.481G>A + c.140C>T	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_57b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_57	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.457dupG	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_58b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_58	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.808G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_59a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_59	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.457dupG	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_61b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_61	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_62a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_62	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_62b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_62	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_63a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_63	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	2	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_63b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_63	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	2	1
+/+	AKU_00050	08	c.481G>A + c.808G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_67a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_67	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_81a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_81	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Poland	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_81b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_81	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Poland	1	1
+/+	AKU_00050	08	c.481G>A + c.533A>G	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_93a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_93	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.1102A>G	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_94a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_94	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.342+1G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_MUL_1b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_MUL_1	AKU	Muller et al. (1999), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Czech republic	1	1
+/+	AKU_00050	08	c.481G>A + c.1102A>G	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_MUL_3b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_MUL_3	AKU	Muller et al. (1999), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Germany	1	1
+/+	AKU_00050	08	c.481G>A + c.16-1G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_MUL_4a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_MUL_4	AKU	Muller et al. (1999), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Czech republic	1	1
+/+	AKU_00050	08	c.481G>A + c.16-1G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_MUL_5b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_MUL_5	AKU	Muller et al. (1999), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Czech republic	1	1
+/+	AKU_00050	08	c.481G>A + c.(?)	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_MUL_6a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_MUL_6	AKU	Muller et al. (1999), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Czech republic	1	1
+/+	AKU_00050	08	c.481G>A + c.457dupG	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_14a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_14	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_15a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_15	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_15b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_15	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.1111dupC	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_17a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_17	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.175delA	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_19a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_19	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.899T>G	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_2a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_2	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_20a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_20	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_20b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_20	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_21a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_21	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_21b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_21	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.16-1G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_3a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_3	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_8a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_8	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_8b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_8	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.1111dupC	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_9a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_9	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TOT_1a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TOT_1	AKU	Toth et al. (2010), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia/Hungary	3	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TOT_1b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TOT_1	AKU	Toth et al. (2010), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia/Hungary	3	1
+/+	AKU_00050	08	c.481G>A + c.1102A>G	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_VIL_12a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_VIL_12	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00050	08	c.481G>A + c.175delA	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_VIL_2b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_VIL_2	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00050	08	c.481G>A + c.559C>G	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_VIL_23a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_VIL_23	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00050	08	c.481G>A + c.457dupG	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_VIL_38b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_VIL_38	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1

601 - 700
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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.
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)