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The B3GALT6 mutation data have been added to a new database.

LOVD - Variant listings for B3GALT6

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+?/+? 01 c.1A>G
    + c.694C>T
- Substitution Initiating methionine p.Met1? - - - B3GALT6_00028 Patient 1 SEMDJL Nakajima et al., 2013 DNA SEQ, WES The patient had a sibling who was also compound heterozygous for both variants and had a similar phenotype. c.1A>G showed a decreased molecular weight ~4kD lower compared to the WT protein. The authors suggested that the translation initiation at the second ATG of the coding sequence (position c.124) would become the initiation codon, resulting in a protein change of p.Met1_Ala41del. Japanese
+?/+? 01 c.1A>G
    + c.466G>A
- Substitution Initiating methionine p.Met1? - - - B3GALT6_00028 Patient 3 SEMDJL Nakajima et al., 2013 DNA SEQ, WES The authors predicted the c.1A>G variant would cause a 41 amino acid deletion due to the second ATG becoming the initiating codon. Japanese
+?/+? 01 c.1A>G - Substitution Initiating methionine p.Met1? - - - B3GALT6_00028 P4 SEMDJL Nakajima et al., 2013 DNA SEQ The authors predicted the c.1A>G variant would result in a 41aa deletion due to the second ATG being the initiation codon. Japanese
+?/+? 01 c.1A>G
    + c.694C>T
- Substitution Initiating methionine p.Met1? - - - B3GALT6_00028 P5 SEMDJL Nakajima et al., 2013 DNA SEQ, WES The authors predicted the c.1A>G variant would result in a 41 aa deletion due to the second ATG becoming the initiating codon. Japanese
+?/+? 01 c.1A>G
    + c.193A>G
- Substitution Initiating methionine p.Met1? - - - B3GALT6_00028 P7 SEMDJL Nakajima et al., 2013 DNA SEQ, WES The authors predicted the c.1A>G variant would result in a 41aa deletion due to the second ATG becoming the initiating codon. Japanese/Singaporean
+/+ 01 c.3G>A
    + c.631C>T
- Substitution Initiating methionine p.Met1? - - - B3GALT6_00016 AN_005844 EDS B3GALT6 Van Damme et al., 2018, Belgium:Ghent DNA PCR, SEQ - Indian
+/+? 01 c.16C>T
    + c.415_423del
- Substitution Missense p.Arg6Trp - - - B3GALT6_00007 P12 Progeroid EDS Nakajima et al., 2013 DNA SEQ - Brazil
+?/+? 01 c.16C>T
    + c.200C>T
- Substitution Missense p.Arg6Trp - - - B3GALT6_00007 F1 SEMDJL Vorster et al., 2014 DNA SEQ The patient had an unaffected sibling who only carried the c.16C>T variant. Afrikaner
+/+ 01 c.77T>C
    + c.808G>A
- Substitution Missense p.Leu26Pro - - - B3GALT6_00020 AN_005847 EDS B3GALT6 Van Damme et al., 2018, Belgium:Ghent DNA CNGP - French
+/+ 01 c.181G>C
    + c.513_520del
- Substitution Missense p.Val61Leu - - - B3GALT6_00022 AN_005848 EDS B3GALT6 Van Damme et al., 2018, Belgium:Ghent DNA WES A non-consanguineous couple of Caucasian origin had two pregnancies terminated because of severe skeletal dysplasia. The second pregnancy was assigned the Patient ID AN_005849. Dutch
+?/+? 01 c.193A>G
    + c.1A>G
- Substitution Missense p.Ser65Gly - - - B3GALT6_00032 P7 SEMDJL Nakajima et al., 2013 DNA SEQ, WES The authors predicted the c.1A>G variant would result in a 41aa deletion due to the second ATG becoming the initiating codon. Japanese/Singaporean
+/+ 01 c.197_253del
    + c.953C>T
- Deletion In-frame deletion p.Ala66_Arg84del - - - B3GALT6_00014 AN_005841 EDS B3GALT6 Van Damme et al., 2018, Belgium:Ghent DNA PCR, SEQ This patient (PIV:1) has two affected siblings with IDs AN_005842 and AN_005843. Congolese-Rwandan
+?/+? 01 c.200C>T
    + c.694C>T
- Substitution Missense p.Pro67Leu - - - B3GALT6_00033 P8 SEMDJL Nakajima et al., 2013 DNA SEQ - Vietnamese
+?/+? 01 c.200C>T
    + c.235A>G
- Substitution Missense p.Pro67Leu - - - B3GALT6_00033 Family 1 SEMDJL Honey et al., 2016 DNA Unknown The patient had a brother who was also positive for both variants, and had a similar phenotype. Afrikaner
+/+? 01 c.200C>T
    + c.235A>G
- Substitution Missense p.Pro67Leu - - - B3GALT6_00033 Family 2 SEMDJL Honey et al., 2016 DNA Unknown - -
+?/+? 01 c.200C>T
    + c.16C>T
- Substitution Missense p.Pro67Leu - - - B3GALT6_00033 F1 SEMDJL Vorster et al., 2014 DNA SEQ The patient had an unaffected sibling who only carried the c.16C>T variant. Afrikaner
+/+ 01 c.227del
    + c.766C>T
- Deletion Frameshift p.Ile76Thrfs*202 - - - B3GALT6_00037 Patient 1 SEMDJL Ritelli et al., 2015 DNA CNGP, SEQ The patient had a younger sister who carried both variants and had a similar phenotype. -
+?/+? 01 c.235A>G
    + c.200C>T
- Substitution Missense p.Thr79Ala - - - B3GALT6_00034 Family 1 SEMDJL Honey et al., 2016 DNA Unknown The patient had a brother who was also positive for both variants, and had a similar phenotype. Afrikaner
+/+? 01 c.235A>G
    + c.200C>T
- Substitution Missense p.Thr79Ala - - - B3GALT6_00034 Family 2 SEMDJL Honey et al., 2016 DNA Unknown - -
+?/+? 01 c.235A>G
    + c.235A>G
- Substitution Missense p.Thr79Ala - - - B3GALT6_00034 F3 SEMDJL Vorster et al., 2014 DNA SEQ - -
+?/+? 01 c.235A>G
    + c.235A>G
- Substitution Missense p.Thr79Ala - - - B3GALT6_00034 F8 SEMDJL Vorster et al., 2014 DNA SEQ One unaffected parent's B3GALT6 gene was sequenced and shown to be heterozygous for c.235A>G. Afrikaner
+?/+? 01 c.235A>G
    + c.235A>G
- Substitution Missense p.Thr79Ala - - - B3GALT6_00034 F10 SEMDJL Vorster et al., 2014 DNA SEQ - Afrikaner
-/- 01 c.308C>T
    + c.353delA, c.987_989delCTG
- Substitution Missense p.Ala103Val - - - B3GALT6_00026 Patient 3 Progeroid EDS Caraffi et al., 2019 DNA CNGP, PCR, SEQ The patient was the second child of non-consanguineous parents. Three variants were detected, and variant c.308C>T was described as a variant of uncertain significance. -
+/+ 01 c.323_344del
    + c.619G>C
- Deletion Nonsense p.Ala108Glyfs∗163 - - - B3GALT6_00002 P3 EDS B3GALT6 Malfait et al., 2013 DNA RT-PCR, SEQ Has a younger sister, P4, of the same genotype Iran
+/+ 01 c.353delA
    + c.925T>A
- Deletion Nonsense p.Asp118Alafs*160 - - - B3GALT6_00004 P9 Progeroid EDS Nakajima et al., 2013 DNA SEQ This patient was further described in Caraffi et al., 2019 Italy
+/+ 01 c.353delA
    + c.308C>T, c.987_989delCTG
- Deletion Nonsense p.Asp118Alafs*160 - - - B3GALT6_00004 Patient 3 Progeroid EDS Caraffi et al., 2019 DNA CNGP, PCR, SEQ The patient was the second child of non-consanguineous parents. Three variants were detected, and variant c.308C>T was described as a variant of uncertain significance. -
+/+? 01 c.415_423del
    + c.16C>T
- Deletion In-frame deletion p.Met139Ala141del - - - B3GALT6_00008 P12 Progeroid EDS Nakajima et al., 2013 DNA SEQ - Brazil
+/+ 01 c.430G>A
    + c.513_520del
- Substitution Missense p.Asp144Asn - - - B3GALT6_00018 AN_005845 EDS B3GALT6 Van Damme et al., 2018, Belgium:Ghent DNA PCR, SEQ - Dutch
+?/+? 01 c.466G>A
    + c.1A>G
- Substitution Missense p.Asp156Asn - - - B3GALT6_00030 Patient 3 SEMDJL Nakajima et al., 2013 DNA SEQ, WES The authors predicted the c.1A>G variant would cause a 41 amino acid deletion due to the second ATG becoming the initiating codon. Japanese
+/+ 01 c.476C>A
    + c.795A>C
- Substitution Missense p.Ser159Tyr - - - B3GALT6_00024 EDS B3GALT6 Sellars et al., 2014 DNA WES The authors have confirmed the transcript-level sequence variants that cause the amino acid substitutions. -
+/+ 01 c.477del
    + c.782G>A
- Deletion Frameshift p.Phe160Serfs*118 - - - B3GALT6_00012 AN_005840 EDS B3GALT6 Van Damme et al., 2018, Belgium:Ghent DNA PCR, SEQ - Dutch
+?/+? 01 c.511C>T
    + c.901_921dup
- Substitution Missense p.Arg171Cys - - - B3GALT6_00036 IV-5 SEMDJL Trejo et al., 2017 DNA SEQ The proband also had two siblings who carried both variants in B3GALT6, and were positive for SEMDJL, with some clinical variability. They were also described in Ranza et al., 2017 -
+/+ 01 c.513_520del
    + c.925T>A
- Deletion Frameshift p.Glu174Alafs*266 - - - B3GALT6_00011 AN_005839 EDS B3GALT6 Van Damme et al., 2018, Belgium:Ghent DNA CNGP - USA
+/+ 01 c.513_520del
    + c.430G>A
- Deletion Frameshift p.Glu174Alafs*266 - - - B3GALT6_00011 AN_005845 EDS B3GALT6 Van Damme et al., 2018, Belgium:Ghent DNA PCR, SEQ - Dutch
+/+ 01 c.513_520del
    + c.181G>C
- Deletion Frameshift p.Glu174Alafs*266 - - - B3GALT6_00011 AN_005848 EDS B3GALT6 Van Damme et al., 2018, Belgium:Ghent DNA WES A non-consanguineous couple of Caucasian origin had two pregnancies terminated because of severe skeletal dysplasia. The second pregnancy was assigned the Patient ID AN_005849. Dutch
+/+ 01 c.536_541dup
    + c.536_541dup
- Duplication Duplication p.Arg179_Arg180dup - - - B3GALT6_00025 Family 9 EDS B3GALT6 Alazami et al., 2016 DNA SEQ, WES The formal ID for this family is 12DG2007. -
+/+ 01 c.545A>G
    + c.545A>G
- Substitution Missense p.Tyr182Cys - - - B3GALT6_00019 AN_005846 EDS B3GALT6 Van Damme et al., 2018, Belgium:Ghent DNA PCR, SEQ - Iranian
+/+ 01 c.556T>C
    + c.556T>C
- Substitution Missense p.Phe186Leu - - - B3GALT6_00023 Family 6 EDS B3GALT6 Alazami et al., 2016 DNA SEQ, WES The proband has an affected cousin. The formal ID for this family is 12DG0715. -
+/+ 01 c.556T>C
    + c.556T>C
- Substitution Missense p.Phe186Leu - - - B3GALT6_00023 Family 7 EDS B3GALT6 Alazami et al., 2016 DNA SEQ, WGS There are two affected individuals in this family. The formal ID for this family is 12DG1291. -
+/+ 01 c.556T>C
    + c.556T>C
- Substitution Missense p.Phe186Leu - - - B3GALT6_00023 Family 8 EDS B3GALT6 Alazami et al., 2016 DNA SEQ, WGS The formal ID for this family is 12DG2397. -
+/+ 01 c.588delG
    + c.925T>A
- Deletion Nonsense p.Arg197Alafs∗81 - - - B3GALT6_00006 P10 Progeroid EDS Nakajima et al., 2013 DNA SEQ P10, of family F9, has a younger female relative of the same genotype (relation not explicitly stated, probably a sister) Italian/Canadian
+/+? 01 c.618C>G
    + c.618C>G
- Substitution Missense p.Cys206Trp - - - B3GALT6_00039 V-2 ALGAZ Ben-Mahmoud et al., 2018 DNA PCR, SEQ This family was previously described in Al-Gazali et al., 1999. The proband had two siblings V-1, and V-2, who carried the same variants and phenotype. The authors of Ben-Mahmoud et al., 2018 suggest that Al-Gazali syndrome represents the more severe phenotype among B3GALT6-related diseases due to patients dying within the first few months of life. Palestinian
+/+ 01 c.619G>C
    + c.619G>C
- Substitution Missense p.Asp207His - - - B3GALT6_00001 P1 EDS B3GALT6 Malfait et al., 2013 DNA PCR, SEQ, SeqArray P1 has a maternal cousin, P2, of the same genotype Iran
+/+ 01 c.619G>C
    + c.323_344del
- Substitution Missense p.Asp207His - - - B3GALT6_00001 P3 EDS B3GALT6 Malfait et al., 2013 DNA RT-PCR, SEQ Has a younger sister, P4, of the same genotype Iran
+/+ 01 c.631C>T
    + c.3G>A
- Substitution Missense p.Pro211Ser - - - B3GALT6_00017 AN_005844 EDS B3GALT6 Van Damme et al., 2018, Belgium:Ghent DNA PCR, SEQ - Indian
+/+ 01 c.649G>A
    + c.649G>A
- Substitution Missense p.Gly217Ser - - - B3GALT6_00003 P5 EDS B3GALT6 Malfait et al., 2013 DNA RT-PCR, SEQ - Iran
+?/+? 01 c.694C>T
    + c.1A>G
- Substitution Missense p.Arg232Cys - - - B3GALT6_00029 Patient 1 SEMDJL Nakajima et al., 2013 DNA SEQ, WES The patient had a sibling who was also compound heterozygous for both variants and had a similar phenotype. c.1A>G showed a decreased molecular weight ~4kD lower compared to the WT protein. The authors suggested that the translation initiation at the second ATG of the coding sequence (position c.124) would become the initiation codon, resulting in a protein change of p.Met1_Ala41del. Japanese
+?/+? 01 c.694C>T
    + c.1A>G
- Substitution Missense p.Arg232Cys - - - B3GALT6_00029 P5 SEMDJL Nakajima et al., 2013 DNA SEQ, WES The authors predicted the c.1A>G variant would result in a 41 aa deletion due to the second ATG becoming the initiating codon. Japanese
+?/+? 01 c.694C>T
    + c.899G>C
- Substitution Missense p.Arg232Cys - - - B3GALT6_00029 P6 SEMDJL Nakajima et al., 2013 DNA SEQ, WES - Japanese
+?/+? 01 c.694C>T
    + c.200C>T
- Substitution Missense p.Arg232Cys - - - B3GALT6_00029 P8 SEMDJL Nakajima et al., 2013 DNA SEQ - Vietnamese
+?/+? 01 c.766C>T
    + c.227del
- Substitution Missense p.Arg256Trp - - - B3GALT6_00038 Patient 1 SEMDJL Ritelli et al., 2015 DNA CNGP, SEQ The patient had a younger sister who carried both variants and had a similar phenotype. -
+/+ 01 c.782G>A
    + c.477del
- Substitution Missense p.Arg261His - - - B3GALT6_00013 AN_005840 EDS B3GALT6 Van Damme et al., 2018, Belgium:Ghent DNA PCR, SEQ - Dutch
+/+ 01 c.795A>C
    + c.929A>G
- Substitution Missense p.Glu265Asp - - - B3GALT6_00009 AN_005838 EDS B3GALT6 Van Damme et al., 2018, Belgium:Ghent DNA WES - USA
+/+ 01 c.795A>C
    + c.476C>A
- Substitution Missense p.Glu265Asp - - - B3GALT6_00009 EDS B3GALT6 Sellars et al., 2014 DNA WES The authors have confirmed the transcript-level sequence variants that cause the amino acid substitutions. -
+/+ 01 c.808G>A
    + c.77T>C
- Substitution Missense p.Gly270Ser - - - B3GALT6_00021 AN_005847 EDS B3GALT6 Van Damme et al., 2018, Belgium:Ghent DNA CNGP - French
+?/+? 01 c.845_846delinsTA
    + c.845_846delinsTA
- Insertion/Deletion Missense p.Ser282Ile - - - B3GALT6_00040 Patient 7 SEMDJL Ranza et al., 2017 DNA SEQ, WES The patient initially had no clinical diagnosis, but was classified as having SEMDJL1 after molecular screening. -
+?/+? 01 c.899G>C
    + c.694C>T
- Substitution Missense p.Cys300Ser - - - B3GALT6_00031 P6 SEMDJL Nakajima et al., 2013 DNA SEQ, WES - Japanese
+?/+? 01 c.901_921dup
    + c.511C>T
- Duplication Duplication p.Lys301_Arg307dup - - - B3GALT6_00035 IV-5 SEMDJL Trejo et al., 2017 DNA SEQ The proband also had two siblings who carried both variants in B3GALT6, and were positive for SEMDJL, with some clinical variability. They were also described in Ranza et al., 2017 -
+/+? 01 c.925T>A
    + c.353delA
- Substitution Missense p.Ser309Thr - - - B3GALT6_00005 P9 Progeroid EDS Nakajima et al., 2013 DNA SEQ This patient was further described in Caraffi et al., 2019 Italy
+/+? 01 c.925T>A
    + c.588delG
- Substitution Missense p.Ser309Thr - - - B3GALT6_00005 P10 Progeroid EDS Nakajima et al., 2013 DNA SEQ P10, of family F9, has a younger female relative of the same genotype (relation not explicitly stated, probably a sister) Italian/Canadian
+/+ 01 c.925T>A
    + c.513_520del
- Substitution Missense p.Ser309Thr - - - B3GALT6_00005 AN_005839 EDS B3GALT6 Van Damme et al., 2018, Belgium:Ghent DNA CNGP - USA
+/+ 01 c.929A>G
    + c.795A>C
- Substitution Missense p.Tyr310Cys - - - B3GALT6_00010 AN_005838 EDS B3GALT6 Van Damme et al., 2018, Belgium:Ghent DNA WES - USA
+/+ 01 c.953C>T
    + c.197_253del
- Substitution Missense p.Pro318Leu - - - B3GALT6_00015 AN_005841 EDS B3GALT6 Van Damme et al., 2018, Belgium:Ghent DNA PCR, SEQ This patient (PIV:1) has two affected siblings with IDs AN_005842 and AN_005843. Congolese-Rwandan
+?/+? 01 c.987_989delCTG
    + c.308C>T, c.353delA
- Deletion Frameshift p.*330Alaext*72 - - - B3GALT6_00027 Patient 3 Progeroid EDS Caraffi et al., 2019 DNA CNGP, PCR, SEQ The patient was the second child of non-consanguineous parents. Three variants were detected, and variant c.308C>T was described as a variant of uncertain significance. -
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Legend: [ B3GALT6 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. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. dbSNP: dbSNP Type: Type of variant at DNA level. Mutation Effect: Mutation effect at protein or RNA level. Protein: Variation at protein level. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. B3GALT6 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. 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 variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Ethnic origin: Ethnic origin of patient