Mutations in Hereditary Amyloidosis

Mutations in Transthyretin Gene (TTR) MIM *176300


NCBI Reference Sequences:

Location:		18q12.1
Protein:		ACCESSION	NP_000362.1
mRNA:		ACCESSION	NM_000371.3
Genomic DNA:		ACCESSION	NG_009490

TTR exon 1
	Mutations associated with amyloidosis shown in red
	Non-amyloidogenic mutations shown in green


cDNA No.
	-
1	ATG	GCT	TCT	CAT	CGT	CTG	CTC	CTC	CTC	TGC	CTT
	M	A	S	H	R	L	L	L	L	C	L
	-
33	GCT	GGA	CTG	GTA	TTT	GTG	TCT	GAG	GCT	GGC	CCT
	A	G	L	V	F	V	S	E	A	G	P
	-
67	ACG
	T
-
TTR exon 2

-
			A....				C......		GC ..	.....C
70	GGC	ACC	GGT	GAA	TCC	AAG	TGT..	CCT	CTG	ATG	GTC
	G	T	G6S	E	S	K	C10R	P	L12P	M13I	V
-									L12V

				AGA/G	A	A....	A		A	T......	T......
103	AAA	GTT	CTA	GAT	GCT	GTC	CGA	GGC	AGT	CCT.	G CC
	K	V	L	D18G	A19D	V20I	R21Q	G	S23N	P24S	A25S
				D18N
				D18E
-
			TC......		T/C/G			G/A..........
			A......		A/C		C/G	C/G.....	GCC.	......AC/T	CA......
136	ATC	AAT	GTG..	GCC	GTG	CAT	GTG	TTC	AGA	AAG	GCT .
	I	N	V28M	A	V30M	H	V32A	F33C	R34G	K35N	A36P
			V28S		V30L		V32G	F33I	R34T	K35T	A36D
					V30A			F33L	R34S
					V30G			F33V
-					V30L
									TA.....		A A...
		A/T	T	A	T	..GC		CC/A	/A/G....		/C C/T
169	GCT	GAT	GAC	ACC	TGG	GAG	CCA	TTT	GCC	TCT	GG G
	A	D38A	D39V	T40N	W41L	E42G	P	F44S	A45S	S	G47R
		D38V				E42D		F44Y	A45T		G47E
								F44L	A45D		G47A
									A45G		G47V
--
TTR exon 3


		G G...					AGT	A
		/C/T....	..... TG/A	G	C......	AC/A	C/T/T/C	G/C	G	A....	.A/G
202	AAA	ACC	AGT	GAG	TCT..	GGA	GAG	CTG	CAT	GGG	CTC
	K	T49A	S50I	E51G	S52P	G53E	E54L	L55Q	H56R	G57R	L58R
		T49P	S50R	E51_S52dup		G53A	E54K	L55R			L58H
		T49I	S50R			G53R	E54Q	L55P
-
			C			G .........					C .....
	A/G	GT....	AG ..	A		A/CC ..			CA ..	C/T .......	/AT ...
235	ACA	ACT	GAG	GAG	GAA	TTT	GTA	GAA	GGG	ATA	TAC
	T59K	T60A	E61K	E62K	E	F64I	V	E	G67E	I68L	Y69H
	T59R	T60I	E61G			F64L			G67R		Y69I
-			E61A			F64S
						F64V
	.......T/C	C	G	G.....	C.......			A/T	T
268	AAA	GTG	GAA	ATA	GAC..	ACC	AAA	TCT	TAC	TGG	AAG
	K70N	V71A	E72G	I73V	D74H	T	K	S77F	Y78F	W	K
								S77Y
-
				C/
	AT...		C	G/A				G	A/C..	G/A ..	T .....
301	GCA	CTT	GGC	ATC	TCC	CCA	TTC	CAT	GAG	CAT	GCA
	A81T	L	G83R	I84S	S	P	F	H88R	E89Q	H90N	A91S
	A81V			I84T					E89K	H90D
				I84N
-
	A.....
334	GAG
	E92K
-
TTR exon 4


	A......	C			TG.....				A........	G	A.........
337	GTG..	GTA	TTC	ACA	GCC	AAC	GAC	TCC	GGC....	CCC	CGC....
	V93M	V94A	F	T	A97G	N	D	S	G101S	P102R	R103S
					A97S
-											C......
	TA...			T/G G	.....T	A/TT..		A......	T	A......	CG...
370	CGC	TAC	ACC	ATT	GCC	GCC	CTG	CTG..	AGC	CCC	TAC
	R104H	Y	T	I107V	A108A	A109S	L	L111M	S112I	P113T	Y114H
	R104C			I107F		A109T					Y114C
				I107M		A109V					Y114S
-
		C			T	T....		AC...			T.........
403	TCC	TAT	TCC	ACC	ACG	GCT	GTC	GTC	ACC	AAT	CCC....
	S	Y116S	S	T	T119M	A120S	V	V122I	T	N	P125S
								V122A
								V122del
-
436	AAG	GAA	TGA
	K	E	STOP