TTR Mutations II
Sequence Mutations of Human Transthyretin
(reported through 8/2/2001)
|
Mutation
|
DNA Base Change
|
AA Mass Shift, Da
|
Phenotype
|
Geographic Focus (Ethnic Group)
|
Reference
|
|
|
Tyr78Phe
|
TAC –> TTC
|
-16
|
PN, CTS, S
|
France (Italian)
|
2003 Magy et al.
|
References |
|
Ala81Phr
|
GCA –> ACA
|
+30
|
H
|
USA
|
2001 Connors et al.
|
References |
|
Gln92Lys
|
GAG –> GCT
|
0
|
H
|
JAPAN
|
2001 Saito et al.
|
References |
|
Arg103Ser
|
|
-69
|
|
JAPAN
|
2001 Saito et al.
|
References |
|
Ile107Met
|
ATT –> ATG
|
+18
|
H, PN
|
GERMANY
|
1999 Atland et al.
|
References |
|
Ala108Ala*
|
GCC –> GCT
|
0
|
non-Amyloid
|
PORTUGAL
|
1999 Atland et al.
|
References |
| Abbreviation Key: Da = 1 mass unit (u); AN = autonomic neuropathy; CTS = carpal tunnel syndrome; E = eye; H = heart; K = kidney; L = liver; LM = leptomeningeal; N = neuropathy; PN = polyneuropathy |