Mutations in Hereditary Amyloidosis

Mutations in Gelsolin Gene (GSN) MIM *137350


NCBI Reference Sequences:

Location:	9q33.2
Protein:	ACCESSION	NP_000168.1
mRNA:	ACCESSION	NM_000177.4
Genomic DNA:	ACCESSION	NG_012872.1

GSN exon 4	4 mutations associated with amyloidosis


cDNA No.
505	AAA	GGA	GGT	GTG	GCA	TCA	GGA	TTC	AAG	CAC	GTG
	K	G	G	V	A	S	G	F	K	H	V
-
538	GTA	CCC	AAC	GAG	GTG	GTG	GTG	CAG	AGA	CTC	TTC
	V	P	N	E	V	V	V	Q	R	L	F
-
				A ....
571	CAG	GTC	AAA	GGG	CGG	CGT	GTG	GTC	CGT	GCC	ACC
	Q	V	K	G167R	R	R	V	V	R	A	T
-
-										.....A
604	GAG	GTA	CCT	GTG	TCC	TGG	GAG	AGC	TTC	AAC	AAT
	E	V	P	V	S	W	E	S	F	N184K	N
-
		A/T........
637	GGC	GAC	TGC	TTC	ATC	CTG	GAC	CTG	GGC	AAC
	G	D187N	C	F	I	L	D	L	G	N
		D187Y