Table 2.

Summary of sequence changes found in ROBO2^a

Exon	DNA Change and Positionb	Type of Mutation	AA Change	Frequency in Control Subjects	References
2	94C→A	Silent	Arg32Arg	0.24d	rs6788280
7	982G→A	Missense	Gly328Serc	0
11	1544A→T	Missense	Asn515Ilec	0
12	1793T→C	Polymorphism	Ile598Thr	0.01e	Lu et al.12
15	2235A→C	Silent	Val745Val	NT
15	2297A→G	Missense	Asp766Glyc	0
16	2390G→A	Missense	Arg797Glnc	0
25	4056C→T	Silent	Gly1352Gly	NT
IVS1	IVS1 + 115 C→T	Polymorphism?	–	NT
IVS1	IVS1–53 G→A	Polymorphism	–	0.23e	rs9874095
IVS3	IVS3–3 C→T	Polymorphism?	–	NT
IVS4	IVS4 + 109 C→T	Polymorphism?	–	NT
IVS6	IVS6–24 G→A	Polymorphism?	–	NT
IVS9	IVS9 + 33 A→G	Polymorphism	–	0.04e	rs17525412
IVS14	IVS14 + 23 T→C	Polymorphism?	–	NT
IVS20	IVS20–14 G→A	Polymorphism?	–	NT
IVS20	IVS20 + 53 A→G	Polymorphism?	–	NT
IVS22	IVS22 + 13 del A	Polymorphism?	–	NT
IVS22	IVS22 + 120 G→A	Polymorphism	–	0.35e	rs1523768
IVS23	IVS23 + 7 G→A	Polymorphism?	–	NT
IVS24	IVS24 + 28 C→T	Polymorphism	–	0.14e	rs3821735
IVS24	IVS24 + 42 C→T	Polymorphism?	–	NT
IVS25	IVS25 + 149 A→G	Polymorphism	–	0.39e	rs1721189
3′UTR	3′UTR*121 G→A	Polymorphism?	–	NT

^aNT, not tested; UTR, untranslated region.

^bNumbering (position 1) starts at base A from the ATG (Ref. Seq. NM_002942.2 and NP_002933.1 for the protein, NCBI build 36.2).

^cNovel likely pathogenic mutations.

^dReported only in Sub-Saharan African population.

^eFrequency of the alternative allele in Caucasian population reported in NCBI, build 36.2.