1st Faculty of Medicine Charles University 1st Faculty of Medicine Charles University ADENYLOSUCCINATE LYASE DEFICIENCY
01.09.2021

Mutations


Mutation
cDNA
Mutation
protein
-49T>C
1A>C M1L
5C>T A2V
7G>C A3P
8C>T A3V
65C>T A22V
69C>G S23R
71C>T P24L
76A>T M26L
214A>G I72V
240A>C E80D
261T>G D87E
298C>G P100A
340T>C Y114H
421C>T R141W
445C>G R194G
502G>A V168I
569G>A R190Q
578C>T R190X
580C>T R194C
618C>A 206-218del
643G>C D215H
674T>C M225T
701+1G>G/A intron 6
725C>T T242I
731C>T T244I
736 A>G K246E
774_778insG A260GfsX24
802G>A D268N
802G>C D268H
889_891dupAAT
907C>T R303C
910T>G C304G
926G>A R309H
926G>G/A intron 9
931C>G L311V
947T>C M316Y
953C>T P318L
1009C>T R337X
1027G>A E343K
1052T>C I351T
1090G>A V364M
1107A>C I369L
1120C>T R374W
1128G>C E376D
1165A>G M389V
1186C>T R396C
1187G>A R396H
1191+5G>C splice
1253G>C G418A
1264G>T D422Y
1267C>G L423V
1277G>A R426H
1288G>A D430N
1304C>T P435L
1312T>C S438P
1339T>C S447P
1342T>C S448P
1343_1345delCTT S448del
1349C>G T450S
134G>A W45*
1355G>C R452P
1387-1389delGAG E463-
1400C>G P467R
IVS12+1/G>C splice site exon 12
S395R
N297S
R149G
W175C
D332H

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