Table 1 of Birgani, Mol Vis 2009; 15:373-377.

Table 1. CHST6 mutations in Iranian patients with MCD.


Family		 Number
of patients
Zygosity		 Nucleotide
change		 Protein
change		 Disease-causing
or not
A 3 Homozygous c.746A>G p.H249R +
B 3 Homozygous c.92C>T p.P31L +
C 2 Homozygous c.891–892insC p.P297fs +
D 1 Homozygous c.143C>A p.S48X +
E 4 Heterozygous c.494G>A p.C165Y +


Heterozygous c.395C>T p.P132L +
F 1 Heterozygous c.446G>A p.C149Y +
G 1 Homozygous c.379C>T p.R127C +
H 1 Heterozygous c.607G>T p.D203Y +
I 1 Homozygous c.406A>G p.S136G +
J 1 Homozygous c.165C>A p.F55L +
K 1 Heterozygous c.405C>T - -
L 1 No mutations - - -

In the table “+” denotes that the observed changes are Disease-causing, and “-” denotes that the observed changes are not Disease-causing.

Birgani, Mol Vis 2009; 15:373-377. http://www.molvis.org/molvis/v15/a38

©2009 Molecular Vision http://www.molvis.org/molvis/

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