Table 2 of
Klintworth, Mol Vis 2006;
12:159-176.Table 2 of
Klintworth, Mol Vis 2006;
12:159-176.
Table 2. Summary of mutations identified in individuals affected with MCD in present study
The nomenclature of the mutations is provided according to Antonarakis et al. [74] and the current recommendation of the Human Genome Variation Society. Accordingly, we refer to the A of the ATG-translation initiation codon of CHST6 as nucleotide +1. For amino acid numbering, the codon for the initiator methionine is codon 1. In the table, "ND" is not determined, "N/A" is not applicable, the "?" indicates uncertain, and the asterisk indicates that mutations determined from DNA of relatives because DNA of affected individuals was not available for analysis.
Serum
Family Case MCD AgKS Protein
number number type (ng/ml) Alleles Nucleotide change change Zygosity
------ ------ ---- ------- ------- ---------------------- --------- ------------
1 1 I 1,2 c.365A>C Gln122Pro Homozygous
2 ND 1 Upstream Deletion Heterozygous
2 c.365A>C Gln122Pro Heterozygous
2 3- 4 I <9 1,2 c.392C>T Ser131Leu Homozygous
3 5 ND 1 c.271_273delGCTinsA Ala91fs Heterozygous
2 c.392C>T Ser131Leu Heterozygous
4 6- 8 I 0- <1 1 c.217G>C Ala73Pro Heterozygous
2 c.231G>A Trp77X Heterozygous
5 9 ND 1,2 Deletion Including ORF Major Homozygous
6 10-11 ND ? c.294C>G Ser98Ser Heterozygous
1 c.465G>A Arg155Arg Heterozygous
1 c.484C>G Arg162Gly Heterozygous
1 c.744C>G Ser248Arg Heterozygous
2 c.599T>G Leu200Arg Heterozygous
7 12-14 I <2- 6 1 c.1A>T Met1? Heterozygous
2 c.484C>G Arg162Gly Heterozygous
2 c.599T>G Leu200Arg Heterozygous
8 15 I 1,2 c.607G>A Asp203Asn Homozygous
9 16 ND 1 c.484C>G Arg162Gly Heterozygous
2 c.599T>G Leu200Arg Heterozygous
1,2 c.1000C>T Arg334Cys Homozygous
10 17 ND 1 c.51delG Gln18fs Heterozygous
2 c.1046G>A Cys349Tyr Heterozygous
11 18 ND 1,2 Upstream Deletion Homozygous
12 19-21 I <1- <3 1,2 c.189C>G His63Gln Homozygous
1,2 c.340C>T Arg114Cys Homozygous
13 22-23 I 1- 2 1 c.484C>G Arg162Gly Heterozygous
1 c.599T>G Leu200Arg Heterozygous
2 c.740delG Ala247fs Heterozygous
14 24 I 0 1,2 c.529C>T Arg177Cys Homozygous
15 25-26 I <2 1 c.1A>T Met1? Heterozygous
2 c.484C>G Arg162Gly Heterozygous
2 c.599T>G Leu200Arg Heterozygous
16 27-28 I ? Upstream Deletion Heterozygous
? c.1A>T Met1? Heterozygous
17 29 ND 1 c.529C>T Arg177Cys Heterozygous
2 c.815G>A Arg272His Heterozygous
18 30 ND 1,2 Deletion Including ORF Major Homozygous
19 31-32 ND 1 Upstream Deletion Heterozygous
2 c.158C>T Ser53Leu Heterozygous
20* 33 ND 1 c.137T>C Leu46Pro Heterozygous
2 c.277C>A Arg93Ser Heterozygous
21 34-35 I <3 1,2 c.1047C>G Cys349Trp Homozygous
36-37 ND 1,2 c.1047C>G Cys349Trp Homozygous
22 38-39 I <1 1 c.1A>T Met1? Heterozygous
2 c.484C>G Arg162Gly Heterozygous
2 c.599T>G Leu200Arg Heterozygous
23 40 ND ? c.258A>C Ala86Ala Heterozygous
? c.274G>C Val92Leu Heterozygous
? c.573_574insC Ala192fs Heterozygous
24 41-42 II 233-276 1,2 None None N/A
25 43 ND 1 c.91C>T Pro31Ser Heterozygous
2 c.363C>G Phe121Leu Heterozygous
26 44-45 I 0- <4 1 c.484C>G Arg162Gly Heterozygous
1 c.599T>G Leu200Arg Heterozygous
2 c.1000C>T Arg334Cys Heterozygous
27 46-47 II 282-284 1,2 ND None Unknown
28* 48 ND 1 c.484C>G Arg162Gly Heterozygous
1 c.827T>C Leu276Pro Heterozygous
2 c.738C>G Cys246Trp Heterozygous
29* 49-52 ND 1 c.1000C>T Arg334Cys Uncertain
2 Unknown Unknown Uncertain
30* 53 II 1 c.392C>T Ser131Leu Uncertain
1 c.681C>T Gly227Gly Uncertain
1 c.682A>G; 683C>A Thr228Asp Uncertain
2 Unknown Unknown Uncertain
54-56 ND 1 c.392C>T Ser131Leu Uncertain
1 c.681C>T Gly227Gly Uncertain
1 c.682A>G; 683C>A Thr228Asp Uncertain
2 Unknown Unknown Uncertain
31* 57 II 207 1 c.607G>A Asp203Asn Uncertain
2 Unknown
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