ABCMdb

ABCC8 p.Gly716Val

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Publications

PMID: 10204114 [PubMed] Aguilar-Bryan L et al: "Molecular biology of adenosine triphosphate-sensitive potassium channels."

No. Sentence Comment

740 Two of these mutations are expected to lead to severe truncations of SUR1 in or near NBF1, while the third mutation results in a gly3val substitution at position 716, G716V, in the Walker A motif. Login to comment
754 With the exception of the severe truncations and the G716V mutation, the SUR1 mutants retain high-affinity sulfonylurea binding activity, suggesting their folding is not completely aberrant. Login to comment

PMID: 9648840 [PubMed] Shyng SL et al: "Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy."

No. Sentence Comment

173 Previously identified PHHI missense SUR1 mutations were all positioned within the two nucleotide-binding folds, including G1479R (11), F1388 (23), and G716V (25). Login to comment

PMID: 17575084 [PubMed] Yan FF et al: "Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue."

No. Sentence Comment

47 TABLE 1 Genetic and clinical information on patients carrying the CHI mutations Mutation Disease Haplotype Diazoxide response References G7R Focal G7R No 44 N24K Diffuse N24K/R1215W No Not reported F27S Focal F27S No 39 R74W Focal R74W/R1215Q No 39,45,46 E128K Diffuse E128K No Not reported R495Q Diffuse R495Q/R1215Q No 39 E501K Focal E501K No 39 L503P Focal L503P No 44 F686S Focal F686S No 39 G716V* Diffuse G716V/G716V No 47,48 K1337N Not done g3992-9a/K1337N Yes 39 L1350Q Focal L1350Q No 44 S1387F Diffuse S1387F/NA No 9,24 L1390P NA L1390P/NA No Not reported D1472H Diffuse ⌬F1388/D1472H No 39 *Patient was from consanguineous mating and therefore was homozygous for the G716V mutation (48). Login to comment
94 The first group, including G7R, N24K, F27S, R74W, and E128K, is located in the first transmembrane domain TMD0; the second group, including R495Q, E501K, L503P, F686S, and G716V, is located in the second transmembrane domain TMD1 extending through the first nucleotide binding domain; the third group, including K1337N, L1350Q, S1387F, L1390P, and D1472H, is clustered in the second nucleotide binding domain and the COOH terminus of the protein. Login to comment
118 Results from this assay showed that F27S, R74W, E128K, R495Q, E501K, L503P, F686S, G716V, L1350Q, and D1472H mutant channels had greatly reduced surface expression (Ͻ20% of wild-type level)-whereas G7R and N24K mutant channels displayed modestly decreased surface expression level (Ͼ30% but Ͻ50% of wild-type level) and K1337N, S1378F, and L1390P exhibited normal or mildly reduced expression (Ͼ60% of wild-type level; Fig. 3A). Login to comment
48 TABLE 1 Genetic and clinical information on patients carrying the CHI mutations Mutation Disease Haplotype Diazoxide response References G7R Focal G7R No 44 N24K Diffuse N24K/R1215W No Not reported F27S Focal F27S No 39 R74W Focal R74W/R1215Q No 39,45,46 E128K Diffuse E128K No Not reported R495Q Diffuse R495Q/R1215Q No 39 E501K Focal E501K No 39 L503P Focal L503P No 44 F686S Focal F686S No 39 G716V* Diffuse G716V/G716V No 47,48 K1337N Not done g3992-9a/K1337N Yes 39 L1350Q Focal L1350Q No 44 S1387F Diffuse S1387F/NA No 9,24 L1390P NA L1390P/NA No Not reported D1472H Diffuse èc;F1388/D1472H No 39 *Patient was from consanguineous mating and therefore was homozygous for the G716V mutation (48). Login to comment
95 The first group, including G7R, N24K, F27S, R74W, and E128K, is located in the first transmembrane domain TMD0; the second group, including R495Q, E501K, L503P, F686S, and G716V, is located in the second transmembrane domain TMD1 extending through the first nucleotide binding domain; the third group, including K1337N, L1350Q, S1387F, L1390P, and D1472H, is clustered in the second nucleotide binding domain and the COOH terminus of the protein. Login to comment
119 Results from this assay showed that F27S, R74W, E128K, R495Q, E501K, L503P, F686S, G716V, L1350Q, and D1472H mutant channels had greatly reduced surface expression (b0d;20% of wild-type level)-whereas G7R and N24K mutant channels displayed modestly decreased surface expression level (b0e;30% but b0d;50% of wild-type level) and K1337N, S1378F, and L1390P exhibited normal or mildly reduced expression (b0e;60% of wild-type level; Fig. 3A). Login to comment

PMID: 20685672 [PubMed] Bellanne-Chantelot C et al: "ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism."

No. Sentence Comment

119 There is strong evidence that the identified mutation Gly716Asp is pathogenic: (1) it is located in the first nucleotide binding domain, (2) the same residue was reported to be altered (Gly716Val) in a homozygous recessive form of CHI resistant to diazoxide30 and (3) the functional study of Gly716Val showed a reduced surface expression of the mutant channel.31 Among the eight paternally inherited cases, no clinical symptom was reported in the fathers at the time of the child`s diagnosis. Login to comment
123 There is strong evidence that the identified mutation Gly716Asp is pathogenic: (1) it is located in the first nucleotide binding domain, (2) the same residue was reported to be altered (Gly716Val) in a homozygous recessive form of CHI resistant to diazoxide30 and (3) the functional study of Gly716Val showed a reduced surface expression of the mutant channel.31 Among the eight paternally inherited cases, no clinical symptom was reported in the fathers at the time of the child`s diagnosis. Login to comment

PMID: 9618169 [PubMed] Nestorowicz A et al: "Genetic heterogeneity in familial hyperinsulinism."

No. Sentence Comment

192 Furthermore, an analogous mutation (G716V) at Gly2 in the Walker A sequence motif in NBF-1 of the SUR1 protein has also been described in a HI patient (14). Login to comment
242 Genomic DNA samples were also analyzed for the presence of six previously described mutations (1671-20A→G, G716V, 2291-1G→A, 3993-9G→A, ∆F1388 and G1479R) by PCR amplification of relevant exons and flanking intron-exon boundaries, followed by restriction enzyme digestion as described in detail elsewhere (12-15). Login to comment

PMID: 10334322 [PubMed] Otonkoski T et al: "A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland."

No. Sentence Comment

141 The SUR1 gene mutations 1672-20A→G (intron 11), G716V, 2292-1G→A (intron 18), 3992-9G→A (intron 32), G1400D(23)X, 1388 and G1479R, and the Kir6.2 gene mutation L147P, were not present when assayed for by restriction digestion of PCR products amplified from genomic DNA samples as previously described (8,9,11,14). Login to comment

PMID: 10194514 [PubMed] Miki T et al: "The structure and function of the ATP-sensitive K+ channel in insulin-secreting pancreatic beta-cells."

No. Sentence Comment

87 G716V (Thomas et al. 1996a), G1479R (Nichols et al. 1996) and L147P (Thomas et al. 1996b) are missense mutations. Login to comment
135 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 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

PMID: 23506826 [PubMed] Faletra F et al: "Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort."

No. Sentence Comment

111 Interestingly, altered responses to ATP have been reported when the same residue is replaced by a Valine (p.Gly716Val) (Thomas et al., 1996). Login to comment

PMID: 24399968 [PubMed] Martin GM et al: "Pharmacological rescue of trafficking-impaired ATP-sensitive potassium channels."

No. Sentence Comment

218 Mutation Domain Rescue Rescue Gating References by SU by CBZ property SUR1 G7R TMD0 Yes Yes Normal Yan et al., 2007 N24K TMD0 Yes Yes Normal Yan et al., 2007 F27S TMD0 Yes Yes Normal Yan et al., 2007 R74W TMD0 Yes Yes ATP-insensitive Yan et al., 2007 A116P TMD0 Yes Yes Normal Yan et al., 2004 E128K TMD0 Yes Yes ATP-insensitive Yan et al., 2007 V187D TMD0 Yes Yes Normal Yan et al., 2004 R495Q TMD1 Yes Yes Unknown Yan et al., 2007 E501K TMD1 Yes Yes Unknown Yan et al., 2007 L503P TMD1 No No Unknown Yan et al., 2007 F686S NBD1 No No Unknown Yan et al., 2007 G716V NBD1 No No Unknown Yan et al., 2007 E1324K TMD2 N.D.3 N.D. Login to comment