Table 3.

Multiple HPRT mutations in tubular epithelial cells

Mutant*	Mutation 1†	Mutation 2	Distance, bp‡
54-026	c.609T>C§	IVS8+1G>A§	1
58-010a	c.413A>G	c.427delA	14
58-010b	c.427delA	c.496A>G	4,864
58-010c	c.496A>G	c.540A>G	215
61-001¶	Δe2-6‖	IVS7-1G>C	5,013
61-006	c.71T>A	c.73C>G	2
62-027	c.365T>C	c.427delA	7,024
65-014	c.478G>A	c.485G>A	7
68-010	c.77_79ATC>TT**	c.526C>T**	25,025

^*Mutant designations uniquely identify both the donor and mutant (see Table 6). Mutations are designated following Mutation Nomenclature Working Group guidelines (44). 

^† Mutation positions are referenced to the HPRT cDNA sense strand sequence in which the A of the ATG start codon is position 1. 

^‡ Distance between mutation positions in the HPRT gene in DNA base pairs. 

^§ Mutations at successive nucleotides in the HPRT gene (g.40109–40110). 

^¶ Two different mutants from donor 61 contained the same mutation pair. 

^‖ The endpoints of this deletion have not been defined. 

^**Amplified cDNA contained two subpopulations, one each showing the designated mutations.