Table 6.

TTR Variants Discussed in This GeneReview

DNA Nucleotide Change 1, 2Predicted Protein Change 1, 2Phenotype
c.76G>Ap.Gly26Ser 3Benign
c.95T>Cp.Leu32ProLM, liver
c.113A>Gp.Asp38GlyLM
c.112G>Ap.Asp38AsnHeart
c.118G>Ap.Val40IleHeart
c.130C>Tp.Pro44SerHeart, CTS, PN
c.133G>Ap.Ala45ThrLM, PN
c.148G>Ap.Val50MetPN, AN, eye, LM
c.149T>Gp.Val50GlyLM, eye
c.166G>Cp.Ala56ProEye, CTS
c.173A>Cp.Asp58AlaPN, heart, lung
c.182G>Tp.Trp61LeuEye, PN
c.185A>Gp.Glu62GlyPN, AN, heart
c.193G>Ap.Ala65ThrHeart
c.193G>Tp.Ala65SerHeart
c.218G>Ap.Gly73GluLM, heart
c.218G>Cp.Gly73AlaLM, PN, kidney, eye, heart
c.224T>Cp.Leu75ProHeart, AN, eye
c.227A>Gp.His76ArgHeart
c.229G>Ap.Gly77ArgHeart
c.233T>Gp.Leu78HisCTS, heart
c.250T>Cp.Phe84LeuPN, CTS, heart
c.251T>Cp.Phe84SerLM, PN, eye
c.262A>Tp.Ile88LeuHeart, PN
c.265T>Cp.Tyr89HisEye, LM
c.270A>Cp.Lys90AsnEye, CTS, PN
c.290C>Ap.Ser97TyrHeart, kidney, PN
c.301G>Ap.Ala101ThrHeart
c.302C>Tp.Ala101ValHeart
c.311T>Gp.Ile104SerHeart, CTS, eye
c.323A>Gp.His108ArgHeart
c.334G>Ap.Glu112LysHeart
c.367C>Ap.Arg123SerHeart
c.379A>Gp.Ile127ValCTS, heart, PN
c.385G>Ap.Ala129Thr 3Benign
c.386C>Tp.Ala129Val 3Benign
c.386C>Tp.Ala129SerPN, AN
c.391C>Ap.Leu131MetHeart
c.401A>Gp.Tyr134CysPN, AN, eye, LM
c.400T>Cp.Tyr134HisCTS, skin
c.416C>Tp.Thr139MetNon-amyloid, FEH
c.424G>Ap.Val142IleHeart

AN = autonomic neuropathy; CTS = carpal tunnel syndrome; FEH = familial euthyroid hypertyroxinemia (see Genetically Related Disorders); LM = leptomeningeal; PN = peripheral neuropathy

Variants listed in the table have been provided by the author. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

The nucleotide naming conventions follow those of Human Genome Variation Society (varnomen​.hgvs.org). For the DNA nucleotide change the numbering begins at the Met initiation codon.

2.

Note: Historical protein numbering was based on the mature protein after cleavage of a 20-amino-acid signal sequence (e.g., p.Leu32Pro was historically referred to as Leu12Pro). Standard nomenclature uses numbering beginning at the Met initiation codon. Variants reported in older literature may use historical nomenclature.

3.

Causes familial euthyroid hyperthyroxinemia; see Genetically Related Disorders.

From: Hereditary Transthyretin Amyloidosis

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