Table 1 List of mutations identified in the SPAST gene in our HSP cohort

From: Erratum: Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia

No.	Exon/intron	Family no.	Type of mutation	cDNA	Protein	F/S	Onset of phenotype	Pure/complex	Reference/novel
1	Ex 1	24227	Nonsense	c.373G>T	p.Glu125Term	F	>35	Pure	11
2	Ex 2	25942	Nonsense	c.499C>T	p.Gln167Term	S	>35	Pure	Novel
3	Ex 3	24283	Insertion	c.549_550insT	p.Asn184Term	F	<35	Pure	Novel
4	Ex 5	21987	Deletion	c.692delC	p.Ala231Valfs Term239	?	?	?	Novel
5	Ex 5	19583	Deletion	c.839_840delAG	p.Gln280Argfs Term289	F	<35	Pure	12
6	Ex 5	28146	Splice	c.870 G>A	Unknown	?	?	?	Novel
7	Int 5	25961	Splice	c.870+1G>T	Unknown	?	?	?	Novel
8	Ex 6	24295	Insertion	c.981_982insAT	p.Ile328IlefsTerm329	?	?	?	Novel
9	Ex 7	21937	Missense	c.1067A>G	p.Glu356Gly	?	<10	?	6
10	Ex 7	21935	Missense	c.1081C>T	p.Pro361Ser	F	<35	Complex (cardiomyopathy)	Novel
11	Int 7	21971	Splice/deletion	c.1099-3_1099-1delTAG	Unknown	F	>35	Pure	Novel
12	Ex 8	21977	Deletion	c.1101_1103delGTT	p.Leu367del	F	>35	Pure	Novel
13	Ex 8	25902	Deletion	c.1101_1103delGTT	p.Leu367del	F	<10	Pure	Novel (2)
14	Ex 8	24218	Insertion	c.1115_1116insG	p.Arg372Argfs Term393	?	?	?	Novel
15	Ex 8	25945	Missense	c.1121C>G	p.Pro374Arg	F	<10	?	Novel
16	Ex 8	25946	Missense	c.1154G>A	p.Gly385Glu	S	>35	Pure	Novel
17	Int 8	24292	Splice	c.1174-1G>T	Unknown	F	<35	Pure	Novel
18	Ex 9	21938	Missense	c.1196C>T	p.Ser399Leu	F	?	?	34
19	Ex 9	24224	Missense	c.1196C>T	p.Ser399Leu	?	?	?	34
20	Ex 9	19576	Deletion	c.1202delC	p.Ala401GlufsTerm406	?	?	?	Novel
21	Ex 9	24286	Deletion	c.1215_1219delTATAA	p.Asn405LysfsTerm440	S	>35	Pure	8
22	Ex 9	24268	Missense	c.1216A>G	p.Ile406Val	F	<35	Pure	35
23	Ex 9	21901	Deletion	c.1245delC	p.Tyr415Term	S	>35	Pure	Novel
24	Int 9	24248	Splice	c.1245+1G>T	Unknown	F	<10	Pure	36
25	Ex 10	24231	Missense	c.1250G>A	p.Gly417Glu	F	<35	Complicated (cognitive impairment)	Novel
26	Ex 10	19582	Missense	c.1280T>G	p.Phe427Cys	F	>35	Pure	Novel
27	Ex 10	24233	Deletion	c.1281delT	p.Phe427Leufs Term437	?	?	?	37
28	Ex 10	24212	Nonsense	c.1291C>T	p.Arg431Term	F	>35	Pure	8
29	Ex 11	19593	Missense	c.1339T>G	p.Leu447Val	F	>35	Pure	Novel
30	Ex 11	21214	Missense	c.1378.C>T	p.Arg460Cys	F	>35	Complicated (polyneuropathy)	38
31	Ex 11	24222	Missense	c.1378C>T	p.Arg460Cys	?	<10	?
32	Ex 11	24285	Missense	c.1378C>T	p.Arg460Cys	F	<35	Pure	38
33	Ex 11	24228	Missense	c.1379G>A	p.Arg460His	F	<35	Pure	Novel
34	Ex 12	25910	Nonsense	c.1417C>T	p.Gln473Term	F	<10	Autonomic nervous system	Novel
35	Ex 12	24255	Insertion	c.1462_1463insTA	p.Arg488IlefsTerm530	F	>35	Pure	Novel
36	Ex 13	25923	Missense	c.1495C>T	p.Arg499Cys	F	<10	Pure	7
37	Ex 13	21929	Missense	c.1496G>A	p.Arg499His	F	<10	Trunk ataxia	39
38	Ex 13	19598	Missense	c.1507C>T	p.Arg503Trp	?	?	?	14
39	Ex 14	21900	Missense	c.1540A>G	p.Arg514Gly	F	?	?	Novel
40	Ex 14	21985	Missense	c.1540A>G	p.Arg514Gly	F	>35	?	Novel (2)
41	Ex 15	24230	Insertion	c.1649_1650insCCTAAC	p.550_551insLeuThr	F	<35	Pure	Novel
42	Ex 15	19591	Missense	c.1664A>G	p.Asp555Gly	F	<35	Pure	Novel
43	Ex 15	25941	Missense	c.1670C>T	p.Ala557Val	F	<35	Pure	Novel
44	Ex 15	21920	Nonsense	c.1684C>T	p.Arg562Term	?	?	?	8
45	Ex 15	21967	Nonsense	c.1684C>T	p.Arg562Term	?	>35	Pure	8
46	Ex 15	21974	Nonsense	c.1684C>T	p.Arg562Term	F	>35	Pure	8
47	Ex 15	24201	Nonsense	c.1684C>T	p.Arg562Term	F	<35	Pure	8
48	Ex 15	25912	Nonsense	c.1684C>T	p.Arg562Term	F	>35	Pure	8
49	Ex 16	19594	Nonsense	c.1702C>T	p.Gln568Term	?	?	?	Novel
50	Ex 17	19597	Missense	c.1821G>C	p.Trp607Cys	?	?	?	13
51	Ex 17	25936	Missense	c.1821G>C	p.Trp607Cys	F	<35	Pure	13
52	Ex 1- Ex 3	24278	Exon deletion	c.1-?_682+?del	Unknown	?	?	?	19
53	Ex 2- Ex 9	21976	Exon deletion	c.416-?_1493+?del	Unknown	F	<35	Pure	Novel
54	Ex 8	21968	Exon deletion	c.1099-?_1173+?del	Unknown	F	<10	Pure	Novel
55	Ex 9–Ex 17	21940	Exon deletion	c.1174-?_1851+?del	Unknown	F	>35	Pure	Novel
56	Ex 2–Ex16	24270	Exon deletion	c.416-?_1728+?del	Unknown	F	>35	Pure	40
57	Ex 17	24281	Exon deletion	c.1729-?_18511?del	Unknown	?	?	?	19

F, familial; S, sporadic.

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Table 1 List of mutations identified in the SPAST gene in our HSP cohort

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