ABCC8 p.Val1572Ile
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PMID: 17466004
[PubMed]
Muzyamba M et al: "Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies."
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In a second family, the patient had histologically focal disease and was heterozygous for two mutations from his father (G228D and D1471N) and one from his mother (V1572I).
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ABCC8 p.Val1572Ile 17466004:6:164
status: NEW8 By contrast,V1572I is trafficked appropriately and is functional,consistent with a mechanism of reduction to hemizygosity of paternal ABCC8 in focal disease.V1572I is likely to be a benign DNA variant.
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ABCC8 p.Val1572Ile 17466004:8:12
status: NEW86 It is pertinent to note that V1572I has previously been reported to be a polymorphism, on the basis that it is a conservative amino acid substitution, in an Askenazi Jewish population but has not been studied functionally.19 Trafficking and expression studies We first examined the potential subcellular distribution of the Kir6·2/ SUR1 mutant channel complexes.
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ABCC8 p.Val1572Ile 17466004:86:29
status: NEW155 The SUR1G228D and SUR1D1471N mutations are paternally inherited; however,the situation is further complicated by the potential inheritance of a maternal DNA variation (SUR1V1572I).V1573I (alternative notation) has been reported to be a polymorphism on the basis that it is a conservative amino acid and found in controls with a low frequency.19,40 V1572I/V1573I has,however,not been studied functionally and a potential impact was not excluded a priori.
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ABCC8 p.Val1572Ile 17466004:155:348
status: NEW