突變表示方法(參考版)
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【正文】 to CKMGHQHQHQCC can be described as H34_Q35dup (now Q35_C36insHQ) duplications insertion/deletions (indels) variability of short sequence repeats, . in CKMGHQCC (C is amino acid 28), areis described as anare designated by ins after the nucleotides flanking the insertion site, followed by the nucleotides insertedNOTE:insertion/deletions, . C28_M30delinsW (see below)are designated by del after the nucleotide(s) flanking the deletion siteo K29del in the sequence CKMGHQCC (C is amino acid 28) denotes a deletion of amino acid Lysine 29 (K) to CMGHQCCo C28_M30del denotes a deletion of three amino acids, from Cysteine 28 to Methionine 30o Q35del in the sequence CKMGHQCC (C is amino acid 28) denotes a Glutamine 35 (Q) deletion to CKMGHCCo if a deletion creates a new amino acid at the deletion junction the changeare sometimes described as 36L/I, but this is not remened !o 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:o the translation initiator Methionine is numbered as +1Description of amino acid changesdesignating a translation termination codonis used, with the +1_88+10 + +2tc] denotes the intronic mutation +2TC causing the appearance of two RNA molecules, one normal (r.=) and one containing an insertion of the intronic nucleotides 88+1 to 88+10 with the nucleotide change 88+2tco [a + +1_88+10] denotes the nucleotide change A causing an insertion of the intronic nucleotides 88+1 to 88+10 (shift of the splice donor site to an intronic position)Protein levelSequence changes at protein level are basically described as those at the DNA level with the following modifications/additions?！眂haractero [c。 a (adenine), c (cytosine), g (guanine) and u (uracil)o 78ua denotes that at nucleotide 78 a U is changed to an A an “r.” is used to indicate that a change is described at RNAlevel 83GC])RNA levelSequence changes at RNA level are basically described as those at the DNA level with the following modifications/additions。current remendations use the 。 two variations in one allele changes in different alleles translocations inversions duplications insertion/deletions (indels)as separator the ^character is sometimes used but this is not remened (. 83^84insTG)o 76_77insT denotes that a T was inserted between nucleotides 76 and 77o 83_84insTG denotes a TG insertion in the TGtandem
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