Sequence

Analysis Tool	Result
iMutant 3.0	Destabilizing
STRUM	Destabilizing
iStable	Destabilizing
Provean	Neutral
PredictSNP	Neutral
PhD-SNP	Neutral
PolyPhen-2	Neutral
SIFT	Neutral
FATHMM	Damaging

Structure

(Structure unavailable)

Aggregation

Analysis Tool	Result
TANGO (Aggregation Tendency)	No effect
WALTZ (Amyloid Propensity)	No effect
LIMBO (Chaperone Binding Tendency)	No effect

Reported Articles

• Jacobson DR, Buxbaum JN. A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient “SKO” with familial amyloidotic polyneuropathy. Hum Mutat. 1994;3: 254–260. doi:10.1002/humu.1380030313
• Sikora JL, Logue MW, Chan GG, Spencer BH, Prokaeva TB, Baldwin CT, et al. Genetic variation of the transthyretin gene in wild-type transthyretin amyloidosis (ATTRwt). Hum Genet. 2015;134: 111–121. doi:10.1007/s00439-014-1499-0
• Bergen HR, Zeldenrust SR, Butz ML, Snow DS, Dyck PJ, Dyck PJB, et al. Identification of transthyretin variants by sequential proteomic and genomic analysis. Clin Chem. 2004;50: 1544–1552. doi:10.1373/clinchem.2004.033266