| Met13Ile* |
Altland, K (1999). Common molecular characteristics of amyloidogenic TTR mutations. The 4th International Symposium on FAP and Other TTR Related Disorders. Umeå, Sweden, June 1999 font> |
| Asp18Asn |
Connors LH, Lim A, Prokaeva T, Metayer M, Costello CE, and Skinner M (2001). Familial transthyretin amyloidosis: recent Boston experience. Amyloid J Protein Folding Dis 8 (Supplement 2), 158-159 |
| Ala25Thr |
Sekijima Y, Hammarstrom P, Matsumura M, Shimizu Y, Iwata M, Tokuda T, Ikeda S, and Kelly JW (2003). Energetic characteristics of the new transthyretin variant A25T may explain its atypical central nervous system pathology. Lab Invest 83, 409-417 |
| Val28Met |
Carvelho MD, Moreira P, Evangelista T, Ducla-Soares JL, Bento M, Fernandes R, and Saraiva MJ (2000). New transthyretin mutation V28M in a Portuguese kindred with amyloid polyneuropathy. Muscle Nerve 23, 1016-1021 |
| Phe33Cys |
Lim A, McComb ME, O’Connor PB, Prokaeva T, Connors LH, Skinner M, and Costello CE (2001). Identification of novel transthyretin variants in familial amyloidosis by MALDI peptide mapping and ESI tandem mass spectrometry. 49th Annual Conference on Mass Spectrometry and Allied Topics. Chicago, IL, USA, May 2001 Lim A, Prokaeva T, McComb ME, Connors LH, Skinner M, and Costello CE (2003) Identification of S-sulfonation and S-thiolation of a novel transthyretin Phe33Cys variant from a patient diagnosed with familial transthyretin amyloidosis. Protein Sci, in press |
| Trp41Leu |
Lim A, McComb ME, O’Connor PB, Prokaeva T, Connors LH, Skinner M, and Costello CE (2001). Identification of novel transthyretin variants in familial amyloidosis by MALDI peptide mapping and ESI tandem mass spectrometry. 49th Annual Conference on Mass Spectrometry and Allied Topics. Chicago, IL, USA, May 2001. |
|
Lim A, Prokaeva T, McComb ME, O’Connor PB, Théberge R, Connors LH, Skinner M, and Costello CE (2002). Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping and DNA sequence analysis. Anal Chem 74, 741-751. |
|
Yazaki M, Connors LH, Eagle RC, Leff SR, Skinner M, and Benson MD (2002). Transthyretin amyloidosis associated with a novel variant (Trp41Leu) presenting with vitreous opacities. Amyloid J Protein Folding Dis 9, 263-267 |
| Thr49Pro |
Lim A, McComb ME, Prokaeva T, Connors LH, Skinner M, and Costello CE (2002). Identification of transthyretin variants by mass spectrometric peptide mapping. The 5th International Symposium on Familial Amyloidotic Polyneuropathy and Other Transthyretin Related Disorders, Matsumoto, Japan, September 2002. |
| Leu55Gln |
Yazaki M, Varga J, Dyck PJB, and Benson MD (2002). A new transthyretin variant Leu55Gln in a patient with systemic amyloidosis. Amyloid J Protein Folding Dis 9, 268-271. |
| His56Arg |
Jacobson DR, Kane I, Pan T, Tufau P, Gertz MA, Gallo G, and Buxbaum JN (1999). Lateonset cardiac amyloidosis and transthyretin variants: distinguishing between senile cardiac amyloidosis and familial amyloid cardiomyopathy. The 4th International Symposium on FAP and Other TTR Related Disorders. Umeå, Sweden,June 1999. |
| Tyr69Ile |
Takei Y, Hattori T, Yazaki M, Tokuda T, Urasawa N, Kanai S, and Ikeda S (2003). Transthyretin Tyr69-to-Ile mutation (double-nucleotide substitution in codon 69) in a Japanese familial Amyloidosis patient with cardiomyopathy and carpal tunnel syndrome. Amyloid J Protein Folding Dis 10, 25-28. |
| Tyr78Phe |
Magy N, Liepnieks JJ, Gil H, Kantelip B,Dupond JL, Kluve-Beckerman B, and Benson MD (2003). A transthyretin mutation (Tyr78Phe) associated with peripheral neuropathy, carpal tunnel syndrome and skin amyloidosis. Amyloid J Protein Folding Dis 10, 29-33. |
| Ala81Thr |
Connors LH, Lim A, Prokaeva T, Metayer M, Costello CE, and Skinner M (2001). Familial transthyretin amyloidosis: recent Boston experience. Amyloid J Protein Folding Dis 8 (Supplement 2), 158-159. |
|
Misrahi AM, Plante V, Lalu T, Serre L, Adams D, Lacroix DC, and Said G (1998). New transthyretin variants SER 91 and SER 116 associated with familial amyloidotic polyneuropathy. Hum Mutat 12, 71. |
| Gln92Lys |
Saito F, Nakazato M, Akiyama H, Kitahara Y, Date Y, Iwasaki Y, Harasawa S, Hisaki R, Horie T, Kinukawa N, Watanabe T, Sakamaki T, Yagi H, Hoshii Y, Yutani C, and Kanmatsuse K (2001). A case of late onset cardiac amyloidosis with a new transthyretin variant (lysine 92). Hum Pathol 32, 7-239. |
| Arg103Ser |
Jacobson DR (2001). Late-onset transthyretin-associated cardiac amyloidosis. Amyloid J Protein Folding Dis 8 (Supplement 2), 100-102. |
| Ile107Met |
Atland K (1999). Common molecular characteristic of amyloidogenic TTR mutations. The 4th International Symposium on FAP and Other TTR Related Disorders. Umeå, Sweden, June 1999. |