Figure 2.
(a) Normal localization of CNNM2 (red color) within nephron segments (Glom: Glomerulus, PT: Proximal Tubule, DTL: Descending Thin Limb of Loop of Henle, TAL: Thick Ascending Limb of Loop of Henle, DCT: Distal Convoluted Tubule, CNT: Connecting Tubule). CNNM2 protein consists of four transmembrane domains (T1, T2, T3, T4), two cystathionin beta synthase domains (CBS1, CBS2), and a C-terminal cyclic nucleotide-binding homology (CNBH) domain. The Pro482Ala mutation is localized within the CBS1 domain. (b) Representation of Proline (normal variant—pink color) and it’s valency in the CBS1 domain. (c) Representation of Alanine (mutant—red color) and its valency in the CBS1 domain.