RTT

As there is a new MeCP2 mutation database available, we encourage you to submit mutation information to RettBASE (http://mecp2.chw.edu.au). We will continue to operate our database, focussing primarily on the collection of information regarding symptoms. If you have not already filled in one of our questionnaires but would like to contribute information, please contact Brian Hendrich (Brian.Hendrich@ed.ac.uk). Alternatively download questionnaire here (Adobe pdf file), fill it, save the file and e-mail it.

Data updated 31 September 2002
Page under development. Please report found mutations and polymorphisms: B.Hendrich or S.Kriaucionis.

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References

1	Amir,R.E., Van,d.V., I, Wan,M., Tran,C.Q., Francke,U., and Zoghbi,H.Y. (1999). Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2. Nat. Genet. 23, 185-188.
2	Amir,R. and Zoghbi,H. (2000). Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype- genotype correlations. Am. J. Med. Genet. 97, 147-152.
3	Bienvenu,T., Carrie,A., de Roux,N., Vinet,M.C., Jonveaux,P., Couvert,P., Villard,L., Arzimanoglou,A., Beldjord,C., Fontes,M., Tardieu,M., and Chelly,J. (2000). MECP2 mutations account for most cases of typical forms of Rett syndrome. Hum. Mol. Genet. 9, 1377-1384.
4	Huppke,P., Laccone,F., Kramer,N., Engel,W., and Hanefeld,F. (2000). Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum. Mol. Genet. 9, 1369-1375.
5	Kim,S.J. and Cook,E.H., Jr. (2000). Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome. Hum. Mutat. 15 , 382-383.
6	Xiang,F., Buervenich,S., Nicolao,P., Bailey,M.E., Zhang,Z., and Anvret,M. (2000). Mutation screening in Rett syndrome patients. J. Med. Genet. 37, 250-255.
7	Orrico,A., Lam,C., Galli,L., Dotti,M.T., Hayek,G., Tong,S.F., Poon,P.M., Zappella,M., Federico,A., and Sorrentino,V. (2000). MECP2 mutation in male patients with non-specific X-linked mental retardation. FEBS Lett. 481, 285-288.
8	Bird laboratory unpublished observations
9	Cheadle,J.P., Gill,H., Fleming,N., Maynard,J., Kerr,A., Leonard,H., Krawczak,M., Cooper,D.N., Lynch,S., Thomas,N., Hughes,H., Hulten,M., Ravine,D., Sampson,J.R., and Clarke,A. (2000). Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum. Mol. Genet. 9, 1119-1129.
10	Wan,M., Lee,S.S., Zhang,X., Houwink-Manville,I., Song,H.R., Amir,R.E., Budden,S., Naidu,S., Pereira,J.L., Lo,I.F., Zoghbi,H.Y., Schanen,N.C., and Francke,U. (1999). Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am. J. Hum. Genet. 65, 1520-1529.
11	Vacca,M., Filippini,F., Budillon,A., Rossi,V., Mercadante,G., Manzati,E., Gualandi,F., Bigoni,S., Trabanelli,C., Pini,G., Calzolari,E., Ferlini,A., Meloni,I., Hayek,G., Zappella,M., Renieri,A., D'Urso,M., d'Esposito,M., MacDonald,F., Kerr,A., Dhanjal,S., and Hulten,M. (2001). Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. J. Mol. Med. 78, 648-655.
13	Patrick MacLeod, Personal Communication
14	De Bona,C., Zappella,M., Hayek,G., Meloni,I., Vitelli,F., Bruttini,M., Cusano,R., Loffredo,P., Longo,I., and Renieri,A. (2000). Preserved speech variant is allelic of classic Rett syndrome. Eur. J. Hum. Genet. 8, 325-330.
15	Obata,K., Matsuishi,T., Yamashita,Y., Fukuda,T., Kuwajima,K., Horiuchi,I., Nagamitsu,S., Iwanaga,R., Kimura,A., Omori,I., Endo,S., Mori,K., and Kondo,I. (2000). Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. J. Med. Genet. 37, 608-610.
16	Hampson,K., Woods,C.G., Latif,F., and Webb,T. (2000). Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. J. Med. Genet. 37, 610-612.
17	Meloni,I., Bruttini,M., Longo,I., Mari,F., Rizzolio,F., D'Adamo,P., Denvriendt,K., Fryns,J.P., Toniolo,D., and Renieri,A. (2000). A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am. J. Hum. Genet. 67, 982-985.
18	Buyse,I.M., Fang,P., Hoon,K.T., Amir,R.E., Zoghbi,H.Y., and Roa,B.B. (2000). Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. Am. J. Hum. Genet. 67, 1428-1436.
19	Hoffbuhr,K., Devaney,J.M., LaFleur,B., Sirianni,N., Scacheri,C., Giron,J., Schuette,J., Innis,J., Marino,M., Philippart,M., Narayanan,V., Umansky,R., Kronn,D., Hoffman,E.P., and Naidu,S. (2001). MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology 56 , 1486-1495.
21	Couvert,P., Bienvenu,T., Aquaviva,C., Poirier,K., Moraine,C., Gendrot,C., Verloes,A., Andres,C., Le Fevre,A.C., Souville,I., Steffann,J., des,P., V, Ropers,H.H., Yntema,H.G., Fryns,J.P., Briault,S., Chelly,J., and Cherif,B. (2001). MECP2 is highly mutated in X-linked mental retardation. Hum. Mol. Genet. 10, 941-946.
22	Lam,C.W., Yeung,W.L., Ko,C.H., Poon,P.M., Tong,S.F., Chan,K.Y., Lo,I.F., Chan,L.Y., Hui,J., Wong,V., Pang,C.P., Lo,Y.M., and Fok,T.F. (2000). Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome. J. Med. Genet. 37, E41.
23	Watson,P., Black,G., Ramsden,S., Barrow,M., Super,M., Kerr,B., and Clayton-Smith,J. (2001). Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. J. Med. Genet. 38, 224-228.
24	Imessaoudene,B., Bonnefont,J.P., Royer,G., Cormier-Daire,V., Lyonnet,S., Lyon,G., Munnich,A., and Amiel,J. (2001). MECP2 mutation in non-fatal, non-progressive encephalopathy in a male. J. Med. Genet. 38, 171-174.
25	Inui,K., Akagi,M., Ono,J., Tsukamoto,H., Shimono,K., Mano,T., Imai,K., Yamada,M., Muramatsu,T., Sakai,N., and Okada,S. (2001). Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome. Brain Dev. 23, 212-215.
26	Laccone,F., Huppke,P., Hanefeld,F., and Meins,M. (2001). Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions. Hum. Mutat. 17, 183-190.
27	Nielsen,J.B., Henriksen,K.F., Hansen,C., Silahtaroglu,A., Schwartz,M., and Tommerup,N. (2001). MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern. Eur. J. Hum. Genet. 9, 178-184.
28	Auranen,M., Vanhala,R., Vosman,M., Levander,M., Varilo,T., Hietala,M., Riikonen,R., Peltonen,L., and Jarvela,I. (2001). MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. Neurology 56, 611-617.
29	Villard,L., Kpebe,A., Cardoso,C., Chelly,P.J., Tardieu,P.M., and Fontes,M. (2000). Two affected boys in a Rett syndrome family: clinical and molecular findings. Neurology 55, 1188-1193.
30	Leonard,H., Silberstein,J., Falk,R., Houwink-Manville,I., Ellaway,C., Raffaele,L.S., Engerstrom,I.W., and Schanen,C. (2001). Occurrence of Rett syndrome in boys. J. Child Neurol. 16, 333-338.
31	Zappella,M., Meloni,I., Longo,I., Hayek,G., Renieri,A.(2001). Preserved speech variants of the Rett syndrome: Molecular and clinical analysis. Am J Med Genet. 104(1), 14-22.
32	Alessandra Renieri, Personal Communication
33	Schwartzman,J.S., Bernardino,A., Nishimura,A., Gomes,R.R., and Zatz,M. (2001). Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene. Neuropediatrics 32, 162-164.
35	Erlandson,A., Hallberg,B., Hagberg,B., Wahlstrom,J., and Martinsson,T. (2001). MECP2 mutation screening in Swedish classical Rett syndrome females. Eur. Child Adolesc. Psychiatry 10, 117-121.
36	Yamada,Y., Miura,K., Kumagai,T., Hayakawa,C., Miyazaki,S., Matsumoto,A., Kurosawa,K., Nomura,N., Taniguchi,H., Sonta,S.I., Yamanaka,T., and Wakamatsu,N. (2001). Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation. Hum. Mutat. 18, 253.
37	Bienvenu,T., Souville,I., Poirier,K., Aquaviva,C., Burglen,L., Amiel,J., Heron,B., Kaminska,A., Couvert,P., Beldjord,C., and Chelly,J. (2001). Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy. Hum. Mutat. 18, 251-252.
38	Armstrong,J., Pineda,M., Aibar,E., Gean,E., and Monros,E. (2001). Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. Ann. Neurol. 50, 692.
39	Cohen,D., Lazar,G., Couvert,P., Desportes,V., Lippe,D., Mazet,P., and Heron,D. (2002). MECP2 Mutation in a Boy With Language Disorder and Schizophrenia. Am. J. Psychiatry 159, 148-149.
40	Bourdon,V., Philippe,C., Bienvenu,T., Koenig,B., Tardieu,M., Chelly,J., and Jonveaux,P. (2001). Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications. J. Med. Genet. 38, 867-871.
41	Dotti,M.T., Orrico,A., De Stefano,N., Battisti,C., Sicurelli,F., Severi,S., Lam,C.W., Galli,L., Sorrentino,V., and Federico,A. (2002). A Rett syndrome MECP2 mutation that causes mental retardation in men. Neurology 58, 226-230.
42	Yntema,H.G., Oudakker,A.R., Kleefstra,T., Hamel,B.C., van Bokhoven,H., Chelly,J., Kalscheuer,V.M., Fryns,J.P., Raynaud,M., Moizard,M.P., and Moraine,C. (2002). In-frame deletion in MECP2 causes mild nonspecific mental retardation. Am. J. Med. Genet. 107, 81-83.
43	Klauck,S.M., Lindsay,S., Beyer,K.S., Splitt,M., Burn,J., and Poustka,A. (2002). A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. Am. J. Hum. Genet. 70, 1034-1037.
44	Moncla,A., Kpebe,A., Missirian,C., Mancini,J., and Villard,L. (2002). Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling. Eur. J. Hum. Genet. 10, 86-89.
45	Topcu,M., Akyerli,C., Sayi,A., Toruner,G.A., Kocoglu,S.R., Cimbis,M., and Ozcelik,T. (2002). Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. Eur. J. Hum. Genet. 10, 77-81.
46	Yanping Wang, Personal Communication
47	Geerdink,N., Rotteveel,J.J., Lammens,M., Sistermans,E.A., Heikens,G.T., Gabreels,F.J., Mullaart,R.A., and Hamel,B.C. (2002). MECP2 Mutation in a Boy with Severe Neonatal Encephalopathy: Clinical, Neuropathological and Molecular Findings. Neuropediatrics 33, 33-36.
48	Soma Das, Personal Communication
49	Kleefstra,T., Yntema,H.G., Oudakker,A.R., Romein,T., Sistermans,E., Nillessen,W., van Bokhoven,H., de Vries,B.B., and Hamel,B.C. (2002). De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia. Clin. Genet. 61, 359-362.
50	Laccone,F., Zoll,B., Huppke,P., Hanefeld,F., Pepinski,W., and Trappe,R. (2002). MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution. J. Med. Genet. 39, 586-588.

Nucleotide	Base Change	A.A. Change	Frequency	Reference	Reported as
27-6	C27-6G	9F/S	1	26	Rett
42	ins8	14 F/S	1	11	Rett
46	C46T	Q16X	1	RSRF	Rett
55	C55T	Q19X	1	5	Rett
64	A64T	K22X	1	11	Rett
76	∆1	25F/S	1	27	Rett
100	∆4	34F/S	1	36	Rett
167	∆2	55F/S	1	23	AS
201	∆1	68F/S	1	26	Rett
258	∆2	86F/S	1	4	Rett
289	G289T	D97Y	1	19	Rett
291	C291A	D97E	1	6	Rett
298	C298G	L100V	1	RSRF	Rett
301	C301A	P101T	1	9	Rett
301	C301T	P101S	1	11	Rett
302	C302A	P101H	1	9	Rett
302	C302T	P101L	1	9	Rett
302	C302G	P101R	2	16,23	Rett,AS
310	T310C	W104R	1	RSRF	Rett
316	C316T	R106W	36	1,2,4,6,11,15,16,18, 19,22,24,26,27,28,35, RSRF	Rett
317	G317A	R106Q	3	3,18	Rett
331	A331G	R111G	1	26	Rett
345	∆1	116F/S	1	37	Rett
358	T358G	Y120D	1	25	Rett
372	G372C	L124F	1	15	Rett
375	∆1	125F/S	1	15	Rett
377-2	C378-2G	125F/S	1	26	Rett
378-2	A378-2G	125F/S	5	2,4,18,19,RSRF	Rett
380	C380T	P127L	2	13,27	Rett
382	C382T	Q128X	1	RSRF	Rett
387	∆2	130F/S	1	32	Rett
397	C397T	R133C	42	1,2,4,6,11,15,18,19,25,26,27,28,31,32,35,36,46, RSRF	Rett
398	G398T	R133L	1	14	Rett
398	G398A	R133H	2	19,38	Mild Rett
401	C401G	S134C	5	4,9,11,15,RSRF	Rett
403	A403G	K135E	2	26	Rett
407	∆507	135F/S	1	9	Rett
410	A410G	E137G	1	21	XMR
413	T413A	L138X	1	10	Rett
419	C419T	A140V	10	7,21,39,41,43	XMR,PPM-X
423	C423G	Y141X	9	2,11,14,18,23,27,32,36	Rett,AS
430	A430T	K144X	1	18	Rett
431	∆1	144F/S	1	14	Rett
451	∆1	151F/S	1	36	Variant RTT
455	C455G	P152R	20	2,4,9,11,15,18,19,26,32,35,RSRF	Rett
463	T463A	F155I	1	6	Rett
464	T464G	F155C	1	BH	Rett
464	T464C	F155S	2	2,18	Rett
467	A467G	D156G	1	26	Rett
468	C468R	D156E	3	2,32,36	Rett
472	A472G	T158A	1	11	Rett
473	C473T	T158M	100	1,2,3,4,6,8,11,15,16,18,19,25,26,27,28,29,30,31,32, 35,36,46,RSRF	Rett, MRM
481	G481A	G161R	1	RSRF	Rett
488	∆2	163F/S	2	47	Rett, MRM
499	C499T	R167W	1	21	XMR
502	C502T	R168X	93	2,3,4,6,8,11,14,15,16,18,19,22,25,26,27,28,32,35,45, RSRF	Rett
508	C508T	Q170X	4	2,18,26,28	Rett
529	A529T	K177X	1	RSRF	Rett
553	∆1	184F/S	1	18	Rett
563	∆1	188F/S	1	11	Rett
592	A592T	R198X	1	3	Rett
611	C611G	S204X	1	18	Rett
613	G613T	E205X	1	26	Rett
620	insT	207F/S	1	2	Rett
622	C622T	Q208X	1	11	Rett
629	A629T	K210I	1	26	Rett
644	∆4	214F/S	1	25	Rett
651	∆2	218F/S	1	BH	Rett
654	∆4	218F/S	1	9	Rett
674	C674G	P225R	7	2,9,14,28,36,46	Rett
677	insA	225F/S	1	3	Rett
682	insT	288F/S	1	RSRF	Rett
695	∆1	231F/S	1	15	Rett
696	∆1	232F/S	1	15	Rett
704	insG	235F/S	1	19	Rett
704	ins8	235F/S	1	RSRF	Rett
706	∆1	236F/S	2	2,18	Rett
710	∆1	237F/S	3	26	Rett
730	C730T	Q244X	1	19	Rett
747	insC	249F/S	1	19	Rett
749	ins2	251F/S	1	18	Rett
750	∆1	251F/S	2	18,22	Rett
750	insC	252F/S	1	32	Rett
754	∆4	252F/S	1	15	Rett
763	C763T	R255X	78	1,2,3,4,6,11,14,16,18,19,24,26,27,28,32,35,36,46, RSRF	Rett
763	C763T&G1189A	R255X&E397K	1	RSRF*	Rett
766	A766T	K256X	1	2	Rett
766	dup14	260F/S	1	27	Rett
784	C784T	Q262X	1	RSRF	Rett
796	A796C	K266X	1	RSRF	Rett
796	796∆T	266F/S	1	RSRF	Rett
802	C802T	R268W	2	32,35	Rett
803	∆1	268F/S	4	2,18,24	Rett
806	∆1	268F/S	6	10,11,14,46	Rett, MRM
807	∆1	269F/S	2	15,18	Rett
808	C808T	R270X	69	2,3,4,9,11,14,15,16,18,19,24,25,26,27,28,32,35,36, 45,RSRF	Rett
808	∆1	270F/S	1	19	Rett
850	A850G	K284E	1	21	XMR
855	∆4	285F/S	1	19	Rett
857	A857G	K286R	1	48	Rett?
875	insA	285F/S	1	46	Rett
880	C880T	R294X	60	2,3,4,6,9,11,14,15,16,18,19,22,26,27,28,35,36,46, RSRF	Rett
881	∆289,∆8	∆295-396	1	36	Rett
895	∆202	299F/S	1	37	Rett
904	C904G	P302A	2	4,28	Rett
905	C905G	P302R	3	3,26	Rett
905	C905T	P302L	2	9,27	Rett
910	A910C	K304Q	1	BH	Rett
911	A911G	K304R	1	48	Rett?
914	A914G	K305R	1	19	Rett
916	C916T	R306C	62	2,3,4,6,10,11,15,16,18,19,25,26,27,28,31,32,35,36,46, RSRF	Rett
917	G917A	R306H	5	9,18,32	Rett
953	A953C	E318A	1	RSRF	Rett
964	C964G	P322A	1	3	Rett
965	C965T	P322L	2	4,19	Rett
965	∆6	∆322-323	1	18*	Rett
966	insA	322F/S	1	RSRF	Rett
989	ins18,∆8	330F/S	1	37	Rett
996	ins2	332F/S	1	37	Rett
1011	∆191	337F/S	1	19	Rett
1026	insG	315F/S	1	18*	Rett
1030	∆166ins2	344F/S	1	26	Rett
1038	∆82	346F/S	1	19	Rett
1043	∆131ins2	E348V,∆348-391	1	22	Rett
1053	ins10	351F/S	1	6	Rett
1079	C1079A	S360X	1	18	Rett
1096	∆101	366F/S	1	6	Rett
1096	∆106	366F/S	1	26	Rett
1097	∆378	366F/S	1	26	Rett
1098	∆70	367F/S	1	6	Rett
1116	∆86	371F/S	2	11,32	Rett
1116	∆84	372F/S	1	2	Rett
1118	∆183/ins61	373F/S	1	18	Rett
1120	∆69	∆374-396	1	6	Rett
1124	∆53	376F/S	2	36,37	Variant Rett
1132	∆71	378F/S	1	26	Rett
1134	∆7	378F/S	1	8	Rett
1138	∆71&∆322-323	379F/S&315F/S	1	18*	Rett
1141	∆55	381F/S	1	6	Rett
1144	∆50	381F/S	1	27	Rett
748	C748T	R250C	1	48	Rett?
1147	∆170	382F/S	1	2	Rett
1148	∆47	383F/S	1	32	Rett
1151	∆41	384F/S	1	RSRF	Rett
1152	∆44	384F/S	3	9,11,46	Rett
1152	∆41	385F/S	2	2,11	Rett
1154	∆32	384F/S	1	19	MRM
1155	∆32	386F/S	1	31	Rett(PSV)
1156	∆17	385F/S	1	3	Rett
1156	∆44	385F/S	2	23,27	Rett, AS
1156	∆52	386F/S	1	23	AS
1157	∆41	385F/S	7	9,14,18,22,26	Rett
1157	∆44	385F/S	2	4,11	Rett
1158	∆10	386F/S	1	3	Rett
1158	∆10&∆1171-1186	386F/S	1	46*	Rett
1158	∆29	386F/S	1	31	Rett(PSV)
1159	∆41	386F/S	1	14	Rett
1159	∆43	386F/S	1	6	Rett
1159	∆44	386F/S	1	14	Rett
1160	∆26	386F/S	3	19	Mild Rett
1161	1161∆6&1180∆26	∆361-362&393F/S	1	18*	Rett
1161	∆240	∆388-467	1	42	XMR
1163	1163∆11&1174∆18	388F/S&∆392-397	1	18&	Rett
1163	∆17	388F/S	1	32	Rett
1163	∆26	387F/S	5	3,11,18,27,31	Rett
1163	∆35	387F/S	3	4,32	Rett
1163	∆43	388F/S	1	19	Rett
1163	∆44	388F/S	3	18,46,RSRF	Rett
1163	∆45	∆388-402	1	26	Rett
1163	∆338	389F/S	1	26	Rett
1165	∆26	388F/S	2	3,40	Rett
1165	∆69ins21	389F/S	1	14	Rett
1171	∆16&∆1158-1167	391F/S	1	46*	Rett
1174	∆18&1163∆11	∆392-397&388F/S	1	18&	Rett
1177	∆26&1161∆6	393F/S&∆361-362	1	18§	Rett
1180	∆26	393F/S	1	RSRF*	Rett
1182	∆7	394F/S	1	6	Rett
1189	insA	397F/S	1	36	Rett
1189	G1189A&C763T	E397K&R255X	1	RSRF	Rett
1193	insT	397F/S	1	2	Rett
1194	insT	398F/S	1	3	Rett
1216	C1216T	Q406X	1	17	XMR
1308	∆2	436F/S	1	18	Rett
1324	∆44	441F/S	1	BH	Rett
1357	C1357T	R453X	1	32	Rett(PSV)
1358	G1358A	R453Q	1	21	XMR
1364	insC	454F/S	1	4	Rett
1411	∆2	432F/S	1	49	XMR
1454	∆4	486F/S	1	19	Rett
1459	T1459C	X487R	1	35	Rett
1461	A1461C	X487C	1	3	Rett
1461	A1461G	X487W	2	RSRF	Rett

Nucleotide	Base Change	A.A. Change	Frequency	Reference
26-17	∆T		1	35
276	A276G		1	48
378-18	∆A		1	32
426	C426T		1	19
582	C582T		2	27,32
590	C590T	T197M	1	19
602	C602T	A201V	3	25,32
629	A629C	K210T	83%/17%	BH (EST aligment)
720	C720G		1	32
748	C748T	R250C	1	48
750	C750T		1	35
774	G774A		89%/11%	BH (EST aligments)
777	C777T		70%/30%	dbSNP rs1042870
819	G819T		1	32
834	C834T		2	19,32
840	C840T		1	35
849	C849G		1	21
897	C897T		1	21
984	C984T		1	32
1035	A1035G		1	21
1075	T1075C	S359P	1	44
1126	C1126T	P376S	1	50
1141	C1141G	P381A	1	46
1160	C1160T	P387	1	21
1161	∆6	∆388-389	2	18,32
1180	C1180T	E394K	1	44
1189	G1189A	E397K	5	2,48,RSRF
1196	C1196T	P399L	2	21, 50
1197	C1197T		1	32
1202	G1202A	S401N	1	32
1282	G1282A	G428S	2	24,50
1330	G1330A	A444T	1	32
1449	G1449C	E483D	1	35(allelic to R255X and was not found in parents)
1156	C1156T		73%/27%	dbSNP rs1042873
1968	G1968C		1	19
21830	G21830A		1	46(3'UTR AF030876)