Table 4.

Summary of Sequence Alterations Identified in Screening ZNF41 DNA in a Panel of Patients with MRX ^[Note]

Exon and Nucleotide Exchangea	Amino Acid Exchangeb	No. of Patients with Exchange	No. of Control Chromosomesc	Identified Previously
3:
479–42A→ Cd	NA	1	0/405	No
5a:
738C→ T	P111L	1	0/401	No
780T→G	I125R	3	8/401	No
5b:
1192G→A	Q262Q	3	NA	Yes
5c:
1351T→G	D315E	3	NA	Yes
5e:
1864A→G	Q486Q	1	ND	No

Note.— Potentially disease-causing mutations are highlighted in boldface italics.

^aGenBank accession number NM_007130.

^bGenBank accession number NP_009061.

^cNA = not applicable; ND = not determined.

^dAt position −2, with respect to the corresponding exon in variants 41.3 and 41.9.