. 2004 Oct 14;75(6):1136–1142. doi: 10.1086/426318

Table 2.

Genotypes of 19 Patients with IVA Diagnosed by NBS^[Note]

Patient	Allele 1	Allele 2
1	932C→T (A282V)	932C→T (A282V)
2	932C→T (A282V)	932C→T (A282V)
3	932C→T (A282V)	932C→T (A282V)
4	932C→T (A282V)	932C→T (A282V)
5	932C→T (A282V)	932C→T (A282V)
6	932C→T (A282V)	149G→A (R21H)^a
7	932C→T (A282V)	149G→C (R21P)
8	932C→T (A282V)	262G→T (G59C)^a
9	932C→T (A282V)	359G→A (G91E)^a
10	932C→T (A282V)	436A→G (K117E)^a
11	932C→T (A282V)	868G→A (G261R)^a
12	932C→T (A282V)	870_871insG^a
13	932C→T (A282V)	IVS4+2T→C
14	125T→C (L13P)	IVS2-1G→C^a
15	149G→C (R21P)	IVS8-2A→G^a
16	149G→C (R21P)	851G→A (R255Q)^a
17	943A→C (K286Q)^a	IVS3+5G→T^a,^b
18	1136T→C (F350S)^a	IVS3+5G→T^b
19	358G→A (G91R)^a	NI

Note.— Nucleotide changes are shown; the corresponding amino acid change of the mature protein is in parentheses. The most common mutation (932C→T) is underlined. NI= not identified.

Novel mutations.

By comparison of the sequence environment with the wild-type sequence, by use of Splice Site Prediction by Neural Network, this intronic variant is expected to affect RNA splicing by compromising the splice-site consensus sequence.