LOVD - Variant listings for HGD

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+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_ABD_1a deletion - - DNA SEQ exon AKU_ABD_1 AKU Abdulrazzag et al. (2008), Slovakia (Slovak Republic):Bratislava Homozygot 1 UAE 3 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_ABD_1b deletion - - DNA SEQ exon AKU_ABD_1 AKU Abdulrazzag et al. (2008), Slovakia (Slovak Republic):Bratislava Homozygot 1 UAE 3 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_40a deletion - - DNA SEQ exon AKU_DB_40 AKU de Bernabe et al. (1999b), Slovakia (Slovak Republic):Bratislava Homozygot 1 Finland 1 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_40b deletion - - DNA SEQ exon AKU_DB_40 AKU de Bernabe et al. (1999b), Slovakia (Slovak Republic):Bratislava Homozygot 1 Finland 1 1
+/+ AKU_00013 03 c.175delA
    + c.365C>T
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_49a deletion - - DNA SEQ exon AKU_DB_49 AKU Ladjouze-Rezig et al. (2006), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 India 1 1
+/+ AKU_00013 03 c.175delA
    + c.808G>A
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_66a deletion - - DNA SEQ exon AKU_DB_66 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_89a deletion - - DNA SEQ exon AKU_DB_89 AKU Uyguner et al. (2003), Slovakia (Slovak Republic):Bratislava Homozygot 1 Turkey 7 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_89b deletion - - DNA SEQ exon AKU_DB_89 AKU Uyguner et al. (2003), Slovakia (Slovak Republic):Bratislava Homozygot 1 Turkey 7 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_90a deletion - - DNA SEQ exon AKU_DB_90 AKU Uyguner et al. (2003), Slovakia (Slovak Republic):Bratislava Homozygot 1 Turkey 1 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_90b deletion - - DNA SEQ exon AKU_DB_90 AKU Uyguner et al. (2003), Slovakia (Slovak Republic):Bratislava Homozygot 1 Turkey 1 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_92a deletion - - DNA SEQ exon AKU_DB_92 AKU Uyguner et al. (2003), Slovakia (Slovak Republic):Bratislava Homozygot 1 Turkey 1 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_92b deletion - - DNA SEQ exon AKU_DB_92 AKU Uyguner et al. (2003), Slovakia (Slovak Republic):Bratislava Homozygot 1 Turkey 1 1
+/+ AKU_00013 03 c.175delA
    + c.481G>A
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_SRS_19b deletion - - DNA SEQ exon AKU_SRS_19 AKU Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_VIL_11a deletion - - DNA SEQ exon AKU_VIL_11 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Homozygot 1 USA 1 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_VIL_11b deletion - - DNA SEQ exon AKU_VIL_11 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Homozygot 1 USA 1 1
+/+ AKU_00013 03 c.175delA
    + c.410T>C
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_VIL_17a deletion - - DNA SEQ exon AKU_VIL_17 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/+ AKU_00013 03 c.175delA
    + c.481G>A
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_VIL_2a deletion - - DNA SEQ exon AKU_VIL_2 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_VIL_25a deletion - - DNA SEQ exon AKU_VIL_25 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Homozygot 1 USA 1 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_VIL_25b deletion - - DNA SEQ exon AKU_VIL_25 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Homozygot 1 USA 1 1
+/+ AKU_00013 03 c.175delA
    + c.649G>T
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_VIL_27a deletion - - DNA SEQ exon AKU_VIL_27 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/+ AKU_00013 03 c.175delA
    + c.473C>T
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_VIL_3a deletion - - DNA SEQ exon AKU_VIL_3 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/+ AKU_00013 03 c.175delA
    + c.1006+2T>A
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_VIL_70a deletion - - DNA SEQ exon AKU_VIL_70 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 2 1
+/+ AKU_00013 03 c.175delA
    + c.1102A>G
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_VIL_88a deletion - - DNA SEQ exon AKU_VIL_88 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/+ AKU_00013 03 c.175delA
    + c.1078G>C
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_VIL_95a deletion - - DNA SEQ exon AKU_VIL_95 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/+ AKU_00013 03 c.175delA
    + c.899T>G
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_AQR_14a deletion - - DNA SEQ exon AKU_AQR_14 AKU Aquaron et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 La Reunion 1 1
+/+ AKU_00013 03 c.175delA
    + c.649G>T
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_129a deletion - - DNA SEQ exon AKU_DB_129 AKU Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool Compound heterozygous 1 United Kingdom 1 1
+/+ AKU_00013 03 c.175delA
    + c.481G>A
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_137a deletion - - DNA SEQ exon AKU_DB_137 AKU Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool Compound heterozygous 1 United Kingdom 1 1
+/+ AKU_00013 03 c.175delA
    + c.457dupG
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_147b deletion - - DNA SEQ exon AKU_DB_147 AKU Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 2 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_166a deletion - - DNA SEQ exon AKU_DB_166 AKU Nemethova et al. (2016), Italy:Roma Homozygot 1 Italy 1 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_166b deletion - - DNA SEQ exon AKU_DB_166 AKU Nemethova et al. (2016), Italy:Roma Homozygot 1 Italy 1 1
+/+ AKU_00013 03 c.175delA
    + c.175delA, c.650-85A>G, c.650-85A>G
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_183a deletion - - DNA SEQ exon AKU_DB_183 AKU Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava Homozygot 1 India 1 1
+/+ AKU_00013 03 c.175delA
    + c.175delA, c.650-85A>G, c.650-85A>G
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_183b deletion - - DNA SEQ exon AKU_DB_183 AKU Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava Homozygot 1 India 1 1
+/+ AKU_00013 03 c.175delA
    + c.473C>T
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_197a deletion - - DNA SEQ exon AKU_DB_197 AKU Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Canada 1 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_210a deletion - - DNA SEQ exon AKU_DB_210 AKU Usher et al. (2015), United Kingdom (Great Britain):Liverpool Compound heterozygous 1 United Kingdom 2 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_210b deletion - - DNA SEQ exon AKU_DB_210 AKU Usher et al. (2015), United Kingdom (Great Britain):Liverpool Compound heterozygous 1 United Kingdom 2 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_213a deletion - - DNA SEQ exon AKU_DB_213 AKU Usher et al. (2015), United Kingdom (Great Britain):Liverpool Homozygot 1 United Kingdom 1 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_213b deletion - - DNA SEQ exon AKU_DB_213 AKU Usher et al. (2015), United Kingdom (Great Britain):Liverpool Homozygot 1 United Kingdom 1 1
+/+ AKU_00013 03 c.175delA
    + c.899T>G
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_214a deletion - - DNA SEQ exon AKU_DB_214 AKU Usher et al. (2015), United Kingdom (Great Britain):Liverpool Compound heterozygous 1 United Kingdom 1 1
+/+ AKU_00013 03 c.175delA
    + c.52G>A
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_217b deletion - - DNA SEQ exon AKU_DB_217 AKU Usher et al. (2015), United Kingdom (Great Britain):Liverpool Compound heterozygous 1 United Kingdom 1 1
+/+ AKU_00013 03 c.175delA
    + c.614G>T
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_TR2_0327a deletion - - DNA SEQ exon AKU_TR2_0327 AKU Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 France 1 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_238a deletion - - DNA SEQ exon AKU_DB_238 AKU Ascher et al. (2019), Italy:Florence Homozygot 1 Iran 2 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_238b deletion - - DNA SEQ exon AKU_DB_238 AKU Ascher et al. (2019), Italy:Florence Homozygot 1 Iran 2 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_249a deletion - - DNA SEQ exon AKU_DB_249 AKU Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava Homozygot 1 India 1 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_249b deletion - - DNA SEQ exon AKU_DB_249 AKU Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava Homozygot 1 India 1 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_257a deletion - - DNA SEQ exon AKU_DB_257 AKU submitted, United Kingdom (Great Britain):Liverpool Homozygot 1 United Kingdom 1 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_257b deletion - - DNA SEQ exon AKU_DB_257 AKU submitted, United Kingdom (Great Britain):Liverpool Homozygot 1 United Kingdom 1 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_265a deletion - - DNA SEQ exon AKU_DB_265 AKU submitted, United Kingdom (Great Britain):Liverpool Homozygot 1 United Kingdom 1 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_265b deletion - - DNA SEQ exon AKU_DB_265 AKU submitted, United Kingdom (Great Britain):Liverpool Homozygot 1 United Kingdom 1 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_266a deletion - - DNA SEQ exon AKU_DB_266 AKU submitted, United Kingdom (Great Britain):Liverpool Homozygot 1 United Kingdom 1 1
+/+ AKU_00013 03 c.175delA
    + c.175delA
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_266b deletion - - DNA SEQ exon AKU_DB_266 AKU submitted, United Kingdom (Great Britain):Liverpool Homozygot 1 United Kingdom 1 1
+/+ AKU_00013 03 c.175delA
    + c.1102A>G
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_TR2_0303a deletion - - DNA SEQ exon AKU_TR2_0303 AKU Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Belgium 1 1
+/+ AKU_00013 03 c.175delA
    + c.52G>A
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_TR2_0123a deletion - - DNA SEQ exon AKU_TR2_0123 AKU Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Wales 1 1
+/+ AKU_00013 03 c.175delA
    + c.481G>A
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_TR2_0234b deletion - - DNA SEQ exon AKU_TR2_0234 AKU Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00013 03 c.175delA
    + c.1102A>G
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_TR2_0236a deletion - - DNA SEQ exon AKU_TR2_0236 AKU Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
1 - 54

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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, it is used in case of unknown mutation; (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:
Aquaron et al. (2009) (not listed in PubMed): Aquaron R, Rodriguez de Cordoba S, Penalva M, Badens C, Roux H:
Alkaptonuria, Ochronosis and Ochronotic Arthropathy in Mainland France and the Reunion Island. A Report of Clinical and Molecular Findings.
Current Rheumatology Reviews, 2009, 5:111-125. DOI:10.2174/157339709788298419
Cho end Kim (2018) (not listed in PubMed): Cho, SY and Kim, JH:
Identification of HGD mutations in an alkaptonuria patient:using the internet to seek rare disease. J Genet Med, 2018, 15:17-19.
https://doi.org/10.5734/JGM.2018.15.1.17

WHEN REFERRING TO THE DATABASE, PLEASE CITE:
Zatkova et al. (2012): Zatkova A, Sedlackova T, Radvansky J, Polakova H, Nemethova M, Aquaron R, Dursun I, Usher JL, Kadasi L:
Identification of eleven novel homogentisate 1,2 dioxygenase (HGD) variants in alkaptonuria (AKU) patients and establishment of a novel LOVD based HGD mutation database.
JIMD Reports, 2012, Volume 4, 55-65, DOI: 10.1007/8904_2011_68

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