ABCMdb

ABCC8 p.Gln485Arg

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
61 The Q485R mutation arose de novo in proband 6 and is novel, although a different mutation at this residue, Q485H, has been reported in a patient with PNDM [10]. 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
81 The Q485R mutation is highly likely to be pathogenic since it has arisen de novo and a different mutation at this residue has been reported previously [10]. Login to comment
92 The de novo Q485R mutation highlights the fact that a family history of diabetes is not a prerequisite for monogenic diabetes and alerts the patient to the 50% risk of diabetes in her future offspring. 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
66 The Q485R mutation arose de novo in proband 6 and is novel, although a different mutation at this residue, Q485H, has been reported in a patient with PNDM [10]. 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
86 The Q485R mutation is highly likely to be pathogenic since it has arisen de novo and a different mutation at this residue has been reported previously [10]. Login to comment
97 The de novo Q485R mutation highlights the fact that a family history of diabetes is not a prerequisite for monogenic diabetes and alerts the patient to the 50% risk of diabetes in her future offspring. Login to comment