Table 3 of
Klintworth, Mol Vis 2006;
12:159-176.Table 3 of
Klintworth, Mol Vis 2006;
12:159-176.
Table 3. Types of mutations identified in individuals affected with MCD in present study
Amino acid group changes and mutation types for mutations listed in Table 2. In the table, "N/A" indicates not applicable.
Protein
Nucleotide change change Amino acid group change Mutation type
---------------------- --------- ---------------------------- --------------------
c.1A>T Met1? Sulfur-containing - ? Missense
c.91C>T Pro31Ser Aliphatic - hydroxylic Missense
c.137T>C Leu46Pro Aliphatic - aliphatic Missense
c.158C>T Ser53Leu Hydroxylic - aliphatic Missense
c.189C>G His63Gln Basic - amidic Missense
c.217G>C Ala73Pro Aliphatic - aliphatic Missense
c.231G>A Trp77X N/A Nonsense
c.258A>C Ala86Ala None SNP
c.271_273delGCTinsA Ala91fs N/A Deletion + Insertion
c.274G>C Val92Leu Aliphatic - aliphatic Missense
c.277C>A Arg93Ser Basic - hydroxylic Missense
c.294C>G Ser98Ser None SNP
c.340C>T Arg114Cys Basic - sulfur containing Missense
c.363C>G Phe121Leu Aromatic - aliphatic Missense
c.365A>C Gln122Pro Amidic - aliphatic Missense
c.392C>T Ser131Leu Hydroxylic - aliphatic Missense
c.465G>A Arg155Arg None SNP
c.484C>G Arg162Gly Basic - aliphatic SNP
c.51delG Gln18fs N/A Deletion
c.529C>T Arg177Cys Basic - sulfur containing Missense
c.573_574insC Ala192fs N/A Insertion
c.599T>G Leu200Arg Aliphatic - basic Missense
c.607G>A Asp203Asn Acidic - amidic Missense
c.681C>T Gly227Gly Aliphatic - aliphatic SNP
c.682A>G; 683C>A Thr228Asp Hydroxylic - acidic Missense
c.738C>G Cys246Trp Sulfur-containing - aromatic Missense
c.740delG Ala247fs N/A Frameshift
c.744C>G Ser248Arg Hydroxylic - basic Missense
c.815G>A Arg272His Basic - basic Missense
c.827T>C Leu276Pro Aliphatic - aliphatic Missense
c.1000C>T Arg334Cys Basic - sulfur containing Missense
c.1046G>A Cys349Tyr Sulfur-containing - aromatic Missense
c.1047C>G Cys349Trp Sulfur-containing - aromatic Missense
Deletion Including ORF Major N/A Deletion (ORF)
Upstream deletion Deletion (Upstream)
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