PMID: 22662265

Johansson S, Irgens H, Chudasama KK, Molnes J, Aerts J, Roque FS, Jonassen I, Levy S, Lima K, Knappskog PM, Bell GI, Molven A, Njolstad PR
Exome sequencing and genetic testing for MODY.
PLoS One. 2012;7(5):e38050. doi: 10.1371/journal.pone.0038050. Epub 2012 May 25., [PubMed]
Sentences
No. Mutations Sentence Comment
101 ABCC8 p.Ala1366Thr
X
ABCC8 p.Ala1366Thr 22662265:101:97
status: NEW
view ABCC8 p.Ala1366Thr details
 In subject P03, we detected the novel and heterozygous non-synonymous ABCC8 mutation c.4096G.A/p.A1366T. Login to comment 108 ABCC8 p.Ala1366Thr
X
ABCC8 p.Ala1366Thr 22662265:108:63
status: NEW
view ABCC8 p.Ala1366Thr details
 Since the proband was sulfonylurea-sensitive, we categorized p.A1366T as being probably pathogenic. Login to comment 113 ABCC8 p.Ala1366Thr
X
ABCC8 p.Ala1366Thr 22662265:113:167
status: NEW
view ABCC8 p.Ala1366Thr details
 Gene Chr:Position Variant dbSNP132/1000 Gb frequency Frequency in 340 Norwegian controls SIFT/ PolyPhen-2/ AlignGVGDa Patient Conclusion ABCC8 11:17418486 c.4096G.A/p.A1366T 2/0 0 2/+/C55 P03 Pathogenic ALMS1 2:73677199 c.3542C.T/p.T1181I 2/0 0.1% n.a/+/n.a. Login to comment