LOVD - Variant listings for B3GALT6

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Patient data (#0001844)
Patient ID Patient 1
Disease SEMDJL
Reference Nakajima et al., 2013
Template DNA
Technique SEQ, WES
Remarks 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.
Ethnic origin Japanese

Variant data
Allele Parent #1
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Probably pathogenic
Exon 01
DNA change c.1A>G   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Initiating methionine
Protein p.Met1?
RNA change -
Re-site -
Frequency -
DB-ID B3GALT6_00028

2 entries in B3GALT6

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
dbSNP Descending
Ascending
Type Descending
Ascending
Mutation Effect Descending
Ascending
Protein Descending
Ascending
RNA change Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
+?/+? Parent #1 01 c.1A>G - Substitution Initiating methionine p.Met1? - - - B3GALT6_00028
+?/+? Parent #2 01 c.694C>T - Substitution Missense p.Arg232Cys - - - B3GALT6_00029