PMID: 23869231

Proverbio MC, Mangano E, Gessi A, Bordoni R, Spinelli R, Asselta R, Valin PS, Di Candia S, Zamproni I, Diceglie C, Mora S, Caruso-Nicoletti M, Salvatoni A, De Bellis G, Battaglia C
Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.
PLoS One. 2013 Jul 15;8(7):e68740. doi: 10.1371/journal.pone.0068740. Print 2013., [PubMed]
Sentences
No. Mutations Sentence Comment
68 ABCC8 p.Ala390Glu
X
ABCC8 p.Ala390Glu 23869231:68:49
status: NEW
view ABCC8 p.Ala390Glu details
 We also identified a homozygous ABCC8 variant (p.A390E) in exon 7 within a ROH on chromosome 11 (proband Table 1. Login to comment 91 ABCC8 p.Ala390Glu
X
ABCC8 p.Ala390Glu 23869231:91:1015
status: NEW
view ABCC8 p.Ala390Glu details
 Sample ID Gene symbol Chr Position RefSeq ID Amino Acid change PolyPhen/SIFT prediction HI01 HNF1A chr12 121426790 NM_000545 p.A161T* ++/++ KCNH6 chr17 61615518 NM_030779 p.V532F 2/++ HI06 GNAS chr20 57428464 NM_080425 p.E48D +/++ ACACB chr12 109683531 NM_001093 p.N1760S 2/++ NOTCH2 chr1 120464961 NM_024408 p.R1704H +/++ HI18 SLC37A3 chr7 140035229 NM_032295 p.S389L 2/++ CSMD1 chr8 3889535 NM_033225 p.R168W +/++ RYR3 chr15 33938601 NM_001036 p.T1272M +/++ HI26 TRPV3 chr17 3417258 NM_145068 p.L776F ++/++ TRPC5 chrX 111020098 NM_012471 p.G789R 2/++ CAMK2D chr4 114435066 NM_172115 p.R275C ++/++ HI31 PIK3R3 chr1 46521492 NM_003629 p.R306X Nonsense CDKAL1 chr6 21231212 NM_017774 p.S561F 2/++ SCN8A chr12 52163721 NM_014191 p.V1148M 2/++ KCNJ10 chr1 160011280 NM_002241 p.R348H 2/++ HI37 PDE4C chr19 18331081 NM_000923 p.R253C ++/++ HI39 ABCC8 chr11 17428964 NM_000352 p.Q953X* Nonsense ABCC8 chr11 17418595 NM_000352 Splice site NOS2 chr17 26107857 NM_000625 p.R314C ++/++ HI42 ABCC8 chr11 17474673 NM_000352 p.A390E 2/++ SLC24A6 chr12 113737647 NM_024959 p.Y564H ++/++ SULF1 chr8 70501306 NM_015170 p.A222T 2/++ HI43 GLUD1 chr10 88817449 NM_005271 p.S498L* 2/2 TLL1 chr4 166981332 NM_012464 p.G667S ++/2 HI44 CACNA1A chr19 13325090 NM_001127222 p.R1966Q ++/++ PC chr11 66619274 NM_001040716 p.N657Y ++/++ TLL1 chr4 166986893 NM_012464 p.H689P ++/++ *Mutation reported in Human Genome Mutation Database( HGMD). Login to comment