Table 2 of Jin, Mol Vis 2014; 20:553-560.

Table 2. Summary of mutations in three disease-causing genes.

Sample Disease Inheritance mannera Gene Exon Nucleotide change Amino acid change Mutation typeb SIFT/ Polyphen2c
Family-012 RP AD IMPDH1 10 c.942_944delGAA p.K314del het N.P.
Family-024 STD AR ABCA4 13 c.1924T>A p.Phe642Ile hom 0.03/ 0.278
Family-035 LCA AR NMNAT1 3 c.272A>G p.Glu91Gly het 0.2/0.745
NMNAT1 3 c.196C>T p.Arg66Trp het N.P

aInheritance manner: AR (autosomal recessive), AD (autosomal dominant); b Mutation type: het (heterozygous), hom (homozygous); cSIFT/ Polyphen2: N.P. (not predicted)

Jin, Mol Vis 2014; 20:553-560. http://www.molvis.org/molvis/v20/553

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