Quick reference - simple examples description of sequence changes


Last modified January, 2011

Since references to WWW-sites are not yet acknowledged as citations, please mention den Dunnen JT and Antonarakis SE (2000). Hum.Mutat. 15:7-12 when referring to these pages.


Simple examples

For detailed descriptions and more extensive examples see Examples at DNA, RNA or protein level. For an explanation of the characters used in the descriptions see Characters used. For mitochondrial DNA variants see Reference Sequence.

Type of change DNA
(examples shown relate a to coding DNA reference sequence)
RNA
(report only when RNA was analysed)
protein
(NOTE, change deduced only !)
substitution c.-7A>C

c.3G>T

c.88+2T>G

c.89-1G>T

c.*23T>C

NM_004006.1:c.3G>T

GJB6:c.3G>T

rs2306220:A>G
r.67g>u p.Trp26Cys
(p.W26C)

p.Trp26*
(p.W26*)
deletion c.13del
(c.13delT)

c.13_16del   (c.13_16del4)

c.120_123+4del8

c.13-?_300+?
r.13del
(r.13delu)

r.13_16del   (r.13_16del4)

r.13_300del
p.Gly4del
(p.G4del)

p.Gly4_Gln6del
(p.G4_Q6del)

p.Gly4Valfs*14
(p.Gly4fs)
duplication  c.13dup
(c.13dupT)

c.92_94dup   
(c.92_94dupGAC) 
r.13dup   (r.13dupu)

r.92_94dup   
(r.92_94dupgac) 
p.Gly4dup
(p.G4dup)

p.Gly4_Gln6dup
( p.G4_Q6dup)
insertion  c.51_52insT

c.51_52insGAGA
r.51_52insu

r.51_52insgaga
p.Lys2_Leu3insGlnSer
(p.K2_L3insQS)
variability short sequence repeats c.162CAG(12_34)

c.123+74CA(3_6)

g.958A(19_23)
r.162cag(12_34) p.Gln54(12_34)
(p.Q(12_34))
inversion c.77_80inv r.77_80inv -
complex c.112_117delinsTG
(c.112_117del6insTG)
r.112_117delinsug
(r.112_117del6insug)
p.Cys28_Lys29delinsTrp
(p.C28_K29delinsW)
two changes in one allele c.[76C>T; 83G>C] r.[r.76C>T; r.83G>C] p.[Trp13*; Ala43Pro] 
two changes in one individual, alleles unknown c.[76C>T(;)181T>C]  r.[76C>T(;) 181T>C] p.[Trp13*(;)Trp61Arg] 
recessive disease (changes in different alleles) c.[76C>T];[87G>A]

c.[76C>T];[?]

c.[76C>T];[=]
r.[76c>u];[87g>a]

r.[76c>u];[?]

r.[76c>u];[=]
p.[Trp13*];[Cys28Arg]

p.[Trp13*];[?]

p.[Trp13*];[=]
recessive disease (changes in different genes) GJB2:c.[76C>T] ; GJB6:c.[87G>A] GJB2:r.[76c>u] ; 
GJB6:r.[87g>a]
GJB2:p.[Trp13*] ; 
GJB6:p.[Cys28Arg]
exact location unknown
(see Uncertain)
c.(67_70)insG

c.(165_253)del11

c.88-?_923+?del

c.(?_-244)_32+?del
r.(67_70)insg

r.(165_253)del11

r.88_923del

r.0?
p.Gly23fs

p.fs

p.Thr29fs*16

p.0?
frame shift
    (protein only,
see Examples)
- - p.Gly44Valfs*14
(p.Gly4fs)

p.Leu30Serfs*3
(p.Leu30fs)

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