Mutations in Hereditary Amyloidosis

Mutations in Apolipoprotein A-II Gene (APOA2) MIM +107670


NCBI Reference Sequences:

Location:	1q23.3
Protein:	ACCESSION	NP_001634.1
mRNA:	ACCESSION	NM_001643.1
Genomic DNA:	ACCESSION	NG_012043

APOA2 exons 1 to 4	4 mutations associated with amyloidosis, all affecting the stop codon


cDNA No.
1	ATG	AAG	CTG	CTC	GCA	GCA	ACT	GTG	CTA	CTC	CTC
	M	K	L	L	A	A	T	V	L	L	L
-
34	ACC	ATC	TGC	AGC	CTT	GAA	GGA	GCT	TTG	GTT	CGG
	T	I	C	S	L	E	G	A	L	V	R
-
67	AGA	CAG	GCA	AAG	GAG	CCA	TGT	GTG	GAG	AGC	CTG
	R	Q	A	K	E	P	C	V	E	S	L
-
100	GTT	TCT	CAG	TAC	TTC	CAG	ACC	GTG	ACT	GAC	TAT
	V	S	Q	Y	F	Q	T	V	T	D	Y
-
133	GGC	AAG	GAC	CTG	ATG	GAG	AAG	GTC	AAG	AGC	CCA
	G	K	D	L	M	E	K	V	K	S	P
-
165	GAG	CTT	CAG	GCC	GAG	GCC	AAG	TCT	TAC	TTT	GAA
	E	L	Q	A	E	A	K	S	Y	F	E
-
197	AAG	TCA	AAG	GAG	CAG	CTG	ACA	CCC	CTG	ATC	AAG
	K	S	K	E	Q	L	T	P	L	I	K
-
229	AAG	GCT	GGA	ACG	GAA	CTG	GTT	AAC	TTC	TTG	AGC
	K	A	G	T	E	L	V	N	F	L	S
-
261	TAT	TTC	GTG	GAA	CTT	GGA	ACA	CAG	CCT	GCC	ACC
	Y	F	V	E	L	G	T	Q	P	A	T
-
		G/.....
		C/AC......
293	CAG	TGA
	Q	78Argext21
		78Serext21
		78Glyext21