Table 1.

FH Mutations in Families with HLRCC (N=35)^[Note]

Family	Exon	Mutation	Codon	Predicted Result
260	3	Gdel @ 288	97→STOP	Frameshift, protein truncation
8413	4	C431T	S144L	Missense
253	4	A434G	N145S	Missense
8811	4	T455C	M152T	Missense
8411	4	A560G	K187R	Missense
166	4	G569A	R190H	Missense
252	4	G569A	R190H	Missense
262	4	G569A	R190H	Missense
255	4	G569A	R190H	Missense
257	4	G569A	R190H	Missense
258	4	G569A	R190H	Missense
8400	4	G569A	R190H	Missense
8812	4	G569A	R190H	Missense
8425	4	G569A	R190H	Missense
8487	4	G569A	R190H	Missense
8432	4	G569A	R190H	Missense
8401	4	G569T	R190L	Missense
254	6	delGC @ 780	L260→STOP	Frameshift, protein truncation
8518	6	7-bp del @ 782–788	P261→STOP	Frameshift, protein truncation
261	6	C823T	H275Y	Missense
8424	6	T836A	V279D	Missense
8517	6	T875C	L292P	Missense
8423	6	T891A	N297D	Missense
8428	6	G968A	S323N	Missense
8808	6	A964G	S322G	Missense
8810	7	2-bp ins @ 1004	E335→STOP	Frameshift, protein truncation
251	8	delA @ 1162	T388→STOP	Frameshift, protein truncation
259	9	A1265G	Y422C	Missense
8408	9	A1265G	Y422C	Missense
8415	9	8-bp dup @ 1300–1307	S437→STOP	Frameshift, protein truncation
6844	9	delG @ 1339	G447→STOP	Frameshift, protein truncation
700	ND	ND	ND	ND
572	ND	ND	ND	ND
501	ND	ND	ND	ND
511	ND	ND	ND	ND

Note.— Mutations are named according to the recommendations of the Nomenclature System for Human Gene Mutations. Nucleotide numbering is according to the cytosolic FH sequence (GenBank accession number NM_000143), with the A of the ATG initiator codon as nucleotide position 1. Amino acid positions were numbered from the translation of the cytosolic FH nucleotide sequence. ND = not detected.