The first published cDNA sequence of human liver ADSL listed 1478 nucleotides, with an open reading frame of 1377 nucleotides starting at nucleotide 78, encoding a protein of 459 amino acids [see reference 4 in the reference list (Option 7)]. Correction from C to A of the third nucleotide of this sequence has, however, revealed a first ATG, 75 nucleotides 5' of the initially reported initiation codon (E.A. Fon, EMBL database, accession number X65867). The open reading frame thus starts at nucleotide 3, comprises 1452 nucleotides, and encodes a protein which is 25 amino acids longer at the N-terminus, containing 484 amino acids.
The cDNA sequence (Option 3) and the numbering of the nucleotides are taken from the latter submission (see also reference 6).
An extended cDNA sequence, with a 5'-UTR of 55 nucleotides, has been submitted to the EMBL data base by S. Kmoch, under accession number AF067853. As shown under sequence of 5'UTR (Option 4), we found an additional G in position -51, bringing its length to 56 bp.
Base changes are listed following the recommendations of Antonarakis (Hum Mut 11: 1-3, 1998).
The extension of the open reading frame from 1377 to 1452 nucleotides
has resulted in the necessity to change the nomenclature of a
number of previously published amino acid changes, as indicated
in the following list:
| Base change | Previously listed amino acid change | Presently listed amino acid change | Reference |
| c.1314T>C | S413P | S438P | Stone et al., Nature Genet 1: 59-63, 1992 |
| c.342T>C | Y89H | Y114H | Kmoch et al., Clin Biochem 30: 22, 1997 |
| c.571G>A | R165Q | R190Q | |
| c.582C>T | R169C | R194C | |
| c.804G>A | D243N | D268N | |
| c.1279G>A | R401H | R426H | |
| c.1290G>A | D405N | D430N | |
| c.300C>G | P75A | P100A | Verginelli et al., Biochim Biophys Acta 1406: 81-84, 1998 |
| c.1266G>T | D397Y | D422Y |
Page : UCL | ICP | Pointeurs utiles.