Table 2.

Disease‐associated TPP1 variants reported ≥ 10 times

Nucleotide change	Amino acid change	Number of times reported (% of reported alleles, N = 717)
c.509–1 G>C	Splice acceptor variant	193 (27%)
c.622 C>T	p.(Arg208*)	165 (23%)
c.851 G>T	p.(Gly284Val)	35 (4.9%)
c.1525 C>T	p.(Gln509*)	20 (2.8%)
c.827 A>T	p.(Asp276Val)	14 (2.0%)
c.887–10 A>G	Variable	12 (1.7%)
c.1266 G>C	p.(Gln422His)	11 (1.5%)
c.380 G>A	p.(Arg127Gln)	10 (1.4%)

Note: Nucleotide changes are according to NM_000391.3; protein changes are according to NP_000382.3. The emphasis now is on collecting new variants; frequency of the most common variants is, therefore, underrepresented here as new reports for these are no longer included in the UCL TPP1 locus‐specific database.