ABCMdb

PMID: 10194514

Miki T, Nagashima K, Seino S
The structure and function of the ATP-sensitive K+ channel in insulin-secreting pancreatic beta-cells.
J Mol Endocrinol. 1999 Apr;22(2):113-23., [PubMed]

Sentences

No. Mutations Sentence Comment

87 ABCC8 p.Gly716Val G716V (Thomas et al. 1996a), G1479R (Nichols et al. 1996) and L147P (Thomas et al. 1996b) are missense mutations. Login to comment 97 ABCC8 p.Asp854Asn ABCC8 p.Lys719Arg ABCC8 p.Lys719Met Mutations of Walker A (K719R and K719M) in NBF-1 and Walker B (D854N) in NBF-1 of SUR1 severely impair Mg2+ -independent high-affinity ATP binding. Login to comment 128 ABCC8 p.Gly1400Asp This results in the substitution of glycine with aspartic acid at codon 1400 followed by the additional 23 extraneous amino acids. Login to comment 135 ABCC8 p.Gly716Val Three mutations of the NBF-1 region (G716V, 1672-20 adenine<guanine, and 2292-1 guanine< adenine) were also described (Thomas et al. 1996a). Login to comment 136 ABCC8 p.Gly716Val The affected children studied were homozygous for an amino acid substitution in Walker A motif of NBF-1 (G716V) and others were found to be compound heterozygous for two mutations in introns, 20 bp upstream from exon 12 and 1 bp upstream from exon 19 respectively. Login to comment