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Table 1 Novel MAN2B1 variants detected in this study

From: Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation

cDNA label

Location

Predicted effect on protein

Activity2

Processing3

Location4

Nonsense mutations/duplications/deletions

c.383G>A

Exon 3

p.(Trp128Ter)

   

c.809dupA

Exon 6

p.(Asp270GlufsTer54)

   

c.812_813dupTG

Exon 6

p.(Leu272CysfsTer27)

   

c.1047_1048dupCC

Exon 8

p.(His350ProfsTer15)

   

c.2675dupT

Exon 22

p.(Arg893AlafsTer38)

   

c.2944_2947delCCGT

Exon 24

p.(Pro982ThrfsTer50)

   

Splice site mutations

c.1230 + 5G>A1

Intron 9

p.?

   

c.2436 + 5G>A

Intron 20

p.Glu786_Met812del

   

Missense mutations

     

c.304G>A

Exon 3

p.(Asp102Asn)

No

Yes

Lysosomal

c.458G>T

Exon 4

p.(Gly153Val)

No

Yes

Lysosomal

c.2885G>A5

Exon 22

p.(Arg962His)

Yes

Yes

Lysosomal

  1. Mutations were labelled following the most recent Human Genome Variation Society (HGVS) guidelines (version 2.121101, www.hgvs.org/mutnomen). Mutant residues were numbered using the MAN2B1 reference sequence NM 000528.3. The systematic names are preceded by a “c.” following the HGVS recommendations for cDNA reference numbering, with +1 as A of the initiation codon ATG. At the protein level, names are preceded by “p.”. Amino acids are listed according to the three-letter code. Protein labels are in parentheses if the variant has not been studied on RNA or protein level
  2. 1Located on the same allele (in cis) as the known pathogenic missense variant c.2248C>T p.Arg750Trp
  3. 2In lysates of transiently transfected COS-7 cells: No≤20 % of WT; Some = 20-30 % of WT; Yes≥30 % of WT
  4. 3In lysates of transiently transfected COS-7 cells and HeLa-cells
  5. 4 In vivo localisation in transiently transfected HeLa-cells
  6. 5Variant of uncertain clinical significance
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172