Nomenclature for the description of mutations and other sequence variations
Contributor(s)
| Written | 2008-10 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
Indicate the reference sequence:
DNA | ||
coding DNA | c. | |
genomic DNA | g. | |
mitochondrial DNA | m. | |
RNA | r. | |
Protein | p. |
Code:
substitution (for bases) | > |
range | - |
more change in one allele | ; |
more transcripts / mosaicism | , |
uncertain | () |
allele | [ ] |
deletion | del |
duplication | dup |
insertion | ins |
inversion | inv |
conversion | con |
extension | ext |
stop codon | X |
frame shift | fsX |
opposite strand | o |
translocation | t |
Type of variation/mutation:
| Substitution | |
| c.123A>G | on cDNA, A in 123 is replaced by G |
| p.P252R | on protein, proline (P) replaced by arginine (R) |
| Deletion | |
| c.546delT | deletion of T in 546 |
| c.586_591del | for six bases deleted |
| p.F508del | deletion of phenylalanine (F) in 508 |
| Duplication | |
| c.546dupT | duplication of T in 546 |
| c.586_591dup | duplication of the segment 586 to 591 |
| p.G4_Q6dup | duplication of the segment from glycine (G) in 4 to glutamine (Q) in 6 |
| Insertion | |
| c.546_547insT | insertion of T between 546 and 547 |
| c.1086_1087insGCGTGA | insertion of GCGTGA |
| p.K2_L3insQS | insertion of glutamine serine between lysine (K) in 2 and leucine (L) in 3 |
| Inversion | |
| c.546_2031inv | segment 546 to 2031 inverted |
| Frameshift | |
| p.R83SfsX15 | arginine (R) is the first amino acid changed, it is in position 83, it makes serine (S) instead, the length of the shift frame is 15, including the stop codon (X) |
Citation
Huret JL
Atlas of Genetics and Cytogenetics in Oncology and Haematology 2008-10-01
Nomenclature for the description of mutations and other sequence variations
Online version: http://atlasgeneticsoncology.org/teaching/30067/meetings/tumors-explorer/
