Terms and Conditions of Use

The information found on the following pages is for scientific purposes only. Use of this data for any purposes other than scientific is forbidden. The authors and the developers of these pages cannot be held responsible for the use or misuse of the data held herein. The data listed in the tables are intended for research use only. The developers cannot guarantee the accuracy of the information as some information may not have been verified or confirmed. Use of the database may require cookies. If cookies are not accepted, submission of a sequence variant will not be possible. The Hereditary Amyloidosis mutations database must be cited when used in any presentation or publication.

Description of a variants follows the Human Genome Variation Society recommendations.

"c." for a coding DNA sequence (c.76G>A)
"p." for a protein sequence (p.Gly26Ser)

DNA Level

Coding DNA (cDNA) reference sequence was obtained from the Entrez Nucleotide database (a collection of sequences from several sources, including GenBank, NCBI RefSeq, and PDB).

Nucleotide Numbering

Nucleotides are designated by the bases (in upper case).
Numbering is based on the cDNA sequence: begins from nucleotide 1, which is the A of the ATG-translation initiation codon.
Starts with a number referring to the first nucleotide affected (for example c.76G>A).

Protein Level

Proteins are designated in capitals. The translation initiator Methionine is numbered as +1.
Protein description includes the usual name and reference sequence of the primary translation product (not a processed mature protein) and thus include the signal peptide.