{"id":96,"date":"2004-02-03T23:46:05","date_gmt":"2004-02-04T03:46:05","guid":{"rendered":"https:\/\/www.bumc.bu.edu\/msr\/ttr-database\/ttr-mutations-ii\/"},"modified":"2004-02-03T23:46:05","modified_gmt":"2004-02-04T03:46:05","slug":"ttr-mutations-ii","status":"publish","type":"page","link":"https:\/\/www.bumc.bu.edu\/msr\/ttr-database\/ttr-mutations-ii\/","title":{"rendered":"TTR Mutations II"},"content":{"rendered":"

Sequence Mutations of Human Transthyretin<\/strong>
\n(reported through 8\/2\/2001)<\/em><\/strong><\/p>\n\n\n\n\n\n\n\n\n
\nMutation<\/strong>\n<\/td>\n\nDNA Base Change<\/strong>\n<\/td>\n\nAA Mass Shift, Da<\/strong>\n<\/td>\n\nPhenotype<\/strong>\n<\/td>\n\nGeographic Focus (Ethnic Group)<\/strong>\n<\/td>\n\nReference<\/strong>\n<\/td>\n<\/td>\n<\/tr>\n
\nTyr78Phe<\/em><\/strong> <\/a>\n<\/td>\n\nTAC –> TTC<\/strong>\n<\/td>\n\n-16<\/strong>\n<\/td>\n\nPN, CTS, S<\/strong>\n<\/td>\n\nFrance (Italian)<\/strong>\n<\/td>\n\n2003 Magy et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nAla81Phr<\/em><\/strong> <\/a>\n<\/td>\n\nGCA –> ACA<\/strong>\n<\/td>\n\n+30<\/strong>\n<\/td>\n\nH<\/strong>\n<\/td>\n\nUSA<\/strong>\n<\/td>\n\n2001 Connors et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nGln92Lys<\/em><\/strong> <\/a>\n<\/td>\n\nGAG –> GCT<\/strong>\n<\/td>\n\n0<\/strong>\n<\/td>\n\nH<\/strong>\n<\/td>\n\nJAPAN<\/strong>\n<\/td>\n\n2001 Saito et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nArg103Ser<\/em><\/strong> <\/a>\n<\/td>\n<\/td>\n\n-69<\/strong>\n<\/td>\n<\/td>\n\nJAPAN<\/strong>\n<\/td>\n\n2001 Saito et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nIle107Met<\/em><\/strong> <\/a>\n<\/td>\n\nATT –> ATG<\/strong>\n<\/td>\n\n+18<\/strong>\n<\/td>\n\nH, PN<\/strong>\n<\/td>\n\nGERMANY<\/strong>\n<\/td>\n\n1999 Atland et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nAla108Ala*<\/em><\/strong> <\/a>\n<\/td>\n\nGCC –> GCT<\/strong>\n<\/td>\n\n0<\/strong>\n<\/td>\n\nnon-Amyloid<\/strong>\n<\/td>\n\nPORTUGAL<\/strong>\n<\/td>\n\n1999 Atland et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n<\/table>\n\n\n
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<\/strong><\/td>\n<\/tr>\n<\/table>\n","protected":false},"excerpt":{"rendered":"

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 […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":90,"menu_order":6,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"_links":{"self":[{"href":"https:\/\/www.bumc.bu.edu\/msr\/wp-json\/wp\/v2\/pages\/96"}],"collection":[{"href":"https:\/\/www.bumc.bu.edu\/msr\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.bumc.bu.edu\/msr\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/msr\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/msr\/wp-json\/wp\/v2\/comments?post=96"}],"version-history":[{"count":0,"href":"https:\/\/www.bumc.bu.edu\/msr\/wp-json\/wp\/v2\/pages\/96\/revisions"}],"up":[{"embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/msr\/wp-json\/wp\/v2\/pages\/90"}],"wp:attachment":[{"href":"https:\/\/www.bumc.bu.edu\/msr\/wp-json\/wp\/v2\/media?parent=96"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}