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Table 2 .Glycosylation or dolichol related genes with mutated alleles

From: A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

Gene SNPa Type of mutationb Frequency data if already describedc
DHDDS c.192G > A (p.W64X) Stop -
c.441-24A > G (p.C148EfsX11) Intron (splice) ExAC: 0.00001663
TNKS c.1945G > A (p.D649N) Missense
(Polyphen pathogen, SIFT benign)
c.899-16362A > T Intron/ncRNA -
ALG8 c.1068C > G (p.P356=) Exon synonymous -
ALG9 c.-37-77G > A Intron -
DDOST c.679A > G (p.I227V) Missense
(Polyphen and SIFT benign)
ExAC: 0.00004444
MPDU1 c.393C > T, p.V131 = (rs79286384) Exon synonymous Av. he: 0.004
ExAC: 0.0007853
ALG6 c.987 + 43 T > C (rs181709997) Intron Av. he: 0.003
ExAC: 0.003458
STT3A c.88 + 131 T > C (rs191172467) Intron Av. he: 0.001+/−0.024
ExAC: no data
  1. aGenomic positions are on UCSC genome Browser (hg19)
  2. bPolyphen :, SIFT:
  3. cAv. he: average heterozygosity (source dbSNP) or allele frequency ExAC