Mutations in Hereditary Amyloidosis

Mutations in Apolipoprotein A-I Gene (APOA1) MIM +107680


NCBI Reference Sequences:

Location:	11q23.3
Protein:	ACCESSION	NP_000030.1
mRNA:	ACCESSION	NM_000039.1
Genomic DNA:	ACCESSION	NG_012021

AApoA1 exon 3	Mutations associated with amyloidosis shown in red
	Non-amyloidogenic mutations shown in green


cDNA No.
43	GGG	AGC	CAG	GCT	CGG	CAT	TTC	TGG	CAG	CAA	GAT
	G	S	Q	A	R	H	F	W	Q	Q	D
-
76	GAA	CCC	CCC	CAG	AGC	CCC	TGG	GAT	CGA	GTG	AAG
	E	P	P	Q	S	P	W	D	R	V	K
-
109	GAC	CTG	GCC	ACT	GTG	TAC	GTG	GAT	GTG	CTC	AAA
	D	L	A	T	V	Y	V	D	V	L	K
-
			C.......								A.......
142	GAC	AGC	GGC..	AGA	GAC	TAT	GTG	TCC	CAG	TTT	GAA..
	D	S	G26R	R	D	Y	V	S	Q	F	E34K
-
	T..	G.......
175	GGC	TCC..	GCC	TTG	GGA	AAA	CAG	CTA	AAG
	G35V	S36A	A	L	G	K	Q	L	K
-
ApoA1 exon 4

-
-							A........
							C........
202	CTA	AAG	CTC	CTT	GAC	AAC	TGG....	GAC	AGC	GTG	ACC
	L	K	L	L	D	N	W50R	D	S	V	T
-
						G				C
235	TCC	ACC	TTC	AGC	AAG	CTG	CGC	GAA	CAG	CTC	GGC
	S	T	F	S	K	L60R	R	E	Q	L64P	G
-
						A			insA	C
268	CCT	GTG	ACC	CAG	GAG	TTC	TGG	GAT	AAC	CTG	GAA
	P	V	T	Q	E	F71Y	W	D	N74fs	L75P	E
					E70_W72del
-
301	AAG	GAG	ACA	GAG	GGC	CTG	AGG	CAG	GAG	ATG	AGC
	K	E	T	E	G	L	R	Q	E	M	S
-
			C
334	AAG	GAT	CTG	GAG	GAG	GTG	AAG	GCC	AAG	GTG	CAG
	K	D	L90P	E	E	V	K	A	K	V	Q
-
367	CCC	TAC	CTG	GAC	GAC	TTC	CAG	AAG	AAG	TGG	CAG
	P	Y	L	D	D	F	Q	K	K107del	W	Q
-
400	GAG	GAG	ATG	GAG	CTC	TAC	CGC	CAG	AAG	GTG	GAG
	E	E	M	E	L	Y	R	Q	K	V	E
-
433	CCG	CTG	CGC	GCA	GAG	CTC	CAA	GAG	GGC	GCG	CGC
	P	L	R	A	E	L	Q	E	G	A	R
-
466	CAG	AAG	CTG	CAC	GAG	CTG	CAA	GAG	AAG	CTG	AGC
	Q	K	L	H	E	L	Q	E	K	L	S
-
499	CCA	CTG	GGC	GAG	GAG	ATG	CGC	GAC	CGC	GCG	CGC
	P	L	G	E	E	M	R	D	R	A	R
-
	dupGC	del C									T .....
532	GCC	CAT	GTG	GAC	GCG	CTG	CGC	ACG	CAT	CTG	GCC
	A154fs	H155Mfs	V	D	A	L	R	T	H	L	A164S
-
						C		delinsCC	C	C	C.......
565	CCC	TAC	AGC	GAC	GAG	CTG	CGC	CAG	CGC	TTG	GCC..
	P	Y	S	D	E	L170P	R	Q172P	R173P	L174S	A175P
-
			A
598	GCG	CGC	C T T	GAG	GCT	CTC	AAG	GAG	AAC	GGC	GGC
	A	R	L178H	E	A	L	K	E	N	G	G
-			L178P

631	GCC	AGA	CTG	GCC	GAG	TAC	CAC	GCC	AAG	GCC	ACC
	A	R	L	A	E	Y	H	A	K	A	T
-
664	GAG	CAT	CTG	AGC	ACG	CTC	AGC	GAG	AAG	GCC	AAG
	E	H	L	S	T	L	S	E	K	A	K
-
697	CCC	GCG	CTC	GAG	GAC	CTC	CGC	CAA	GGC	CTG	CTG
	P	A	L	E	D	L	R	Q	G	L	L
-
730	CCC	GTG	CTG	GAG	AGC	TTC	AAG	GTC	AGC	TTC	CTG
	P	V	L	E	F	K	V	S	F	L	L
-
763	AGC	GCT	CTC	GAG	GAG	TAC	ACT	AAG	AAG	CTC	AAC
	S	A	L	E	E	Y	T	K	K	L	N
-
796	ACC	CAG	TGA
	T	Q	STOP