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【正文】 ast modified March 7, 2001)Questions and ments regarding nomenclature should be directed to Professor Stylianos Antonarakis (). This page can also be found at the Remendationso Generalo DNAlevelo RNAlevelo proteinlevel(1998). 15: 712] (copy in PDF format).Discussions regarding the advantages and disadvantages of the suggestions are necessary in order to continuously improve the designation of sequence changes. The consensus of the discussions will be posted here and we invite investigators to municate with us regarding these suggestions. Furthermore, we invite investigators to send us plicated cases not covered yet, with a suggestion of how to describe these (mail tomutationto describe each sequence variation. For this, variations are described at the most basic level, . the DNA level, using either a genomic or a cDNA reference sequence. A genomic reference sequence is preferred because it overes difficult cases, including multiple transcription initiation sites (promoters), alternative splicing, the use of different polyA addition signals, multiple translation initiation sites (ATGcodons) and the occurence of length variations. When, like in most cases, the entire genomic sequence is not known, a cDNA reference sequence should be used instead. to avoid confusion in the description of a sequence change, preceed the description with a letter indicating the type of reference sequence used。cDNA(from David Fung, Camperdown, Australia)o r. for ansequence (. )current remendations use the character (. 7678delACT)separated by a +character 83GC]) nucleotides are designated by the bases (in upper case)。 to +1 is numbered 1。 of the ATGtranslation initiation codon is 1167。 beginning of the intron: copy is arbitrarily assigned to have been changed (. ACTTTGTGCC to ACTTTGCC is described as 7_8delTG)Description of nucleotide changesare sometimes described as 76A/G, but this is not remened ! insertions insertion/deletions (indels) inversions changes in different allelescurrent remendations use the 。 an “r.” is used to indicate that a change is described at RNAlevel”charactero [c。 thedesignating a translation termination codono missense changesW26C denotes that amino acid 26 (Tryptophan, W) is changed to a Cysteine (C)o nonsense changesW26X denotes that amino acid 26 (Tryptophan, W) is changed to a stop codon (X)o initiating methionine (M1)Currently, mutations in the translation initiating Methionine (M1) are mostly described as a substitution, . M1V. This is not correct. Either no protein is produced or the translation initiation site moves up or downstream. Unless experimental proof is available, it is probably best to report the effect on protein level as “unknown”. When experimental data show that no protein is made, the description might be most appropriateNOTE:are designated by del after the nucleotide(s) flanking the deletion siteo K29del in the sequence CKMGHQC
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