ABCMdb

ABCC8 p.Glu100Lys

None has been submitted yet.

Publications

PMID: 21989597 [PubMed] Bowman P et al: "Heterozygous ABCC8 mutations are a cause of MODY."

No. Sentence Comment

7 Four patients were heterozygous for previously reported mutations and four novel mutations, E100K, G214R, Q485R and N1245D, were identified. Login to comment
58 Four mutations are novel (E100K, G214R, Q485R and N1245D) and affect residues conserved across species, and none were present in the dbSNP (November 2010) or 1000 genomes databases (May 2011). Login to comment
62 Two of the novel mutations, N1245D and E100K (probands 4 and 7), were inherited from a diabetic parent but grandparental samples were not available to check cosegregation. Login to comment
73 N/M 19 SU 50s Family 1 R1380H/N Family 2 R1380H/N 50s OHA 21 Ins 40s OHA N/M 33 SU N/M 11 SU N/M 18 SU SB Family 3 V222M/G214R V222M/N 45 V222M/G214R 15 Ins Family 4 N1245D/N Family 6 Q485R/N Family 5 V1523L/N Family 7 E100K/N N/M 36 SU N/M 14 Ins N/M 40s OHA 60s Diet N/M 13 SU N/N N/N N/M 42 OHA & Ins N/N 60s Diet N/M 60s Diet ×2 SU Fig. 1 Partial pedigrees showing affected family members, genetic status and treatment (where known). Login to comment
82 The evidence for pathogenicity of the E100K and N1245D mutations is less certain, and both probands progressed from gliclazide to insulin therapy. Login to comment
63 Four mutations are novel (E100K, G214R, Q485R and N1245D) and affect residues conserved across species, and none were present in the dbSNP (November 2010) or 1000 genomes databases (May 2011). Login to comment
67 Two of the novel mutations, N1245D and E100K (probands 4 and 7), were inherited from a diabetic parent but grandparental samples were not available to check cosegregation. Login to comment
78 N/M 19 SU 50s Family 1 R1380H/N Family 2 R1380H/N 50s OHA 21 Ins 40s OHA N/M 33 SU N/M 11 SU N/M 18 SU SB Family 3 V222M/G214R V222M/N 45 V222M/G214R 15 Ins Family 4 N1245D/N Family 6 Q485R/N Family 5 V1523L/N Family 7 E100K/N N/M 36 SU N/M 14 Ins N/M 40s OHA 60s Diet N/M 13 SU N/N N/N N/M 42 OHA & Ins N/N 60s Diet N/M 60s Diet &#d7;2 SU Fig. 1 Partial pedigrees showing affected family members, genetic status and treatment (where known). Login to comment
87 The evidence for pathogenicity of the E100K and N1245D mutations is less certain, and both probands progressed from gliclazide to insulin therapy. Login to comment