Table 2 of Tran-Viet, Mol Vis 2012; 18:937-944.

Table 2. Summary of affected patients with ZNF644 variants in 131 high-grade myopia cases.



Family

Individual

Gender

Ethnicity		 Spherical
Refractive
Error (D)

Exon		 Amino
Acid
Change
cDNA
Position		 Chromosome 1
base pair
location*
Variant
Identification†

Co-segregation
        OD OS            
MYP104 IND0603564 M African American −18.00 −18.00 3 T242M c.725C>T 91406186 Novel N/A
MYP163 IND0603809 F Caucasian −7.50 −6.75 3 E274V c.821A>T 91406090 Novel N/A
MYP8 IND0519772 F Asian −11.00 −12.25 3 H706Y c.2116C>T 91404795 Novel NO
MYP19 IND0519791 M Caucasian −19.25 −21.00 3 K707E c.2119A>G 91404792 rs12117237 YES
MYP83 IND0603414 M Caucasian −9.75 −9.00 3 K707E c.2119A>G 91404792 rs12117237 NO
MYP89 IND0603458 M Caucasian −6.00 −6.00 3 K707E c.2119A>G 91404792 rs12117237 YES
MYP102 IND0603552 F Caucasian −16.00 −18.00 3 K707E c.2119A>G 91404792 rs12117237 N/A
MYP113 IND0603616 F Caucasian −12.75 −13.50 3 K707E c.2119A>G 91404792 rs12117237 NO
MYP129 IND0603676 F Caucasian −5.50 −6.25 3 K707E c.2119A>G 91404792 rs12117237 N/A
MYP2 IND0519764 M Caucasian −10.75 −10.50 4 R1100H c.3299G>A 91403431 Novel NO

Rare is defined by variants not found in controls or have minor allele frequency of less than 1% . Abbreviations: N/A- not available, OD- right eye, OS- left eye, DS- Diopter Sphere, M- Male, F- Female, *UCSC hg19 browser – GRCh37.p5, †-dbSNP132.

Tran-Viet, Mol Vis 2012; 18:937-944. http://www.molvis.org/molvis/v18/a97

©2012 Molecular Vision http://www.molvis.org/molvis/

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