ABCMdb

ABCC8 p.Leu451Pro

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Publications

PMID: 17919176 [PubMed] Patch AM et al: "Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period."

No. Sentence Comment

161 Affected probands and family members can be separated into three distinct groups based T229I/T229I ABCC8 mutations Transient Neonatal Diabetes Mellitus Recessive homozygous mutations R826W (2) H1024Y R1183Q (2) R1183W (5) R1314H R1380C (3) R1380H R1380L (2) D209E D212I D212N R306H V324M C435R L451P L582V (2) Dominant heterozygous mutations Permanent Neonatal Diabetes Mellitus E382K/E382K A1185E/A1185E Mosaic N72S Recessive homozygous or mosaic mutations P45L/G1401R E208K/Y263D T229I/V1523L L438F/M1290V P207S/c.536del4 E1327K+V1523A/ c.1327ins10 Recessive compound heterozygous mutations 1K Dominant heterozygous mutations D209E Q21 L213R L225P(2) I1425V V86A V86G F132L (2) F132V L135P Fig. 2 A diagram illustrating the inheritance of ABCC8 mutations in probands with permanent and transient forms of neonatal diabetes. Login to comment
163 Permanent Neonatal Diabetes Mellitus Transient Neonatal Diabetes Mellitus 1 5 10 15 20 25 30 35 39 N72S V86A V86G F132L F132V L135PP45L P207S E208K D209E Q211K L213R L225P T229I Y263D D209E D212I D212N T229I R306H V324M L438F L451P E382K R826W R1183W R1183Q A1185E E1327K R1314H M1290V R1380C R1380H R1380L G1401R V1523A V1523L H1024YC435R L582V I1425V Fig. 3 The location of missense mutations causing neonatal diabetes within the coding sequence of ABCC8. Login to comment
176 No neurological features were reported in R1183W/Q A1185E E1327K G1401R V1523A/L NBD1 NBD2 outside membrane inside P45L N72S F132L/V L135P P207S E208K D209E Q211K D212I/N L213R L225P T229I Y263D E382K V86A/G L438F C435R R1380C/H/L L451P R826W TMD0 TMD1 TMD2 R306H V324M L582V H1024Y I1425V R1314H M1290V Fig. 4 A schematic of the membrane topologies of SUR1 showing the location of the ABCC8 missense mutations causing neonatal diabetes. Login to comment

PMID: 20922570 [PubMed] Edghill EL et al: "Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11."

No. Sentence Comment

85 One of the most notable R1183W/Q A1185E E1327K G1401R V1523A/L V1524M R1531A NBD1 NBD2 outside membrane inside P45L N72S F132L/V L135P P207S E208K D209E Q211K D212I/N L213R L225P T229I Y263D A269D/N E382K V86A/G R1380C/H/L C435R L438F M1290V L451P R826W R1314H TMD0 TMD1 TMD2 R306H V324M L582V H1024Y I1425V A90V Y356C R521Q N1123D R1153G T1043TfsX74 Fig. 3 Schematic representation of 50 ABCC8 mutations which cause neonatal diabetes. Login to comment

PMID: 17446535 [PubMed] Flanagan SE et al: "Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood."

No. Sentence Comment

71 Ten different ABCC8 gene mutations were identified in 13 probands: D209E (c.627CϾA), D212N (c.634GϾA), D212I (c.634 GϾA 635AϾT), V324M (c.970GϾA), L451P (c.1352TϾC), R826W (c.2476CϾT), R1183W (c.3547CϾT), R1183Q (c.3548GϾA), R1380C (c.4138CϾT), and R1380H (c.4139GϾA). Login to comment
138 TABLE 3 Comparison of clinical and biochemical characteristics of patients with a KATP channel mutation diagnosed before 6 months of age with patients whose diabetes was not diagnosed before age 6 months and the number of each mutation identified within each group Characteristic Mutation carriers diagnosed with diabetes within 6 months Mutation carriers who did not have diabetes diagnosed within the first 6 months P value n (% male) 35 (51) 16 (44) 0.75 Probands (n) 25 0 Age when entering study (years) 6 (0.8-43) 42 (5-56) - Ever diagnosed with diabetes (n) 35 7 1*10-6 Age at diagnosis (weeks) 4 (0-17) 1196 (260 to Ͼ2496) 3.7*10-5 Diabetes remitted (n) 32 0/7 3.7*10-10 Age at remission (weeks) 35 (2-208) - - Diabetes relapsed (n) 7 - - Age at relapse (years) 13 (3-25.5) - - Birth weight (g) 2,695 (1,360-3,570) 2,810 (907-3,090) 0.9 Gestation (weeks) 39 (30-42) 38 (34-40) 0.74 Centile birth weight 18 (Ͻ1st to 89th) 15 (Ͻ1st to 79th) 0.94 KCNJ11 mutations R34C 1 2 G53R 2 0 G53S 2 1 E179A 1 0 I182V 1 0 E227K 4 2 E229K 5 3 R365H 1 1 ABCC8 mutations D209E 1 1 D212N 2 1 D212I 4 0 V324M 1 1 L451P 2 1 R826W 1 0 R1183W 4 2 R1183Q 1 0 R1380C 1 0 R1380H 1 1 Data are median (range), unless otherwise indicated. Login to comment
72 Ten different ABCC8 gene mutations were identified in 13 probands: D209E (c.627Cb0e;A), D212N (c.634Gb0e;A), D212I (c.634 Gb0e;A 635Ab0e;T), V324M (c.970Gb0e;A), L451P (c.1352Tb0e;C), R826W (c.2476Cb0e;T), R1183W (c.3547Cb0e;T), R1183Q (c.3548Gb0e;A), R1380C (c.4138Cb0e;T), and R1380H (c.4139Gb0e;A). Login to comment
139 TABLE 3 Comparison of clinical and biochemical characteristics of patients with a KATP channel mutation diagnosed before 6 months of age with patients whose diabetes was not diagnosed before age 6 months and the number of each mutation identified within each group Characteristic Mutation carriers diagnosed with diabetes within 6 months Mutation carriers who did not have diabetes diagnosed within the first 6 months P value n (% male) 35 (51) 16 (44) 0.75 Probands (n) 25 0 Age when entering study (years) 6 (0.8-43) 42 (5-56) - Ever diagnosed with diabetes (n) 35 7 1*10afa;6 Age at diagnosis (weeks) 4 (0-17) 1196 (260 to b0e;2496) 3.7*10afa;5 Diabetes remitted (n) 32 0/7 3.7*10afa;10 Age at remission (weeks) 35 (2-208) - - Diabetes relapsed (n) 7 - - Age at relapse (years) 13 (3-25.5) - - Birth weight (g) 2,695 (1,360-3,570) 2,810 (907-3,090) 0.9 Gestation (weeks) 39 (30-42) 38 (34-40) 0.74 Centile birth weight 18 (b0d;1st to 89th) 15 (b0d;1st to 79th) 0.94 KCNJ11 mutations R34C 1 2 G53R 2 0 G53S 2 1 E179A 1 0 I182V 1 0 E227K 4 2 E229K 5 3 R365H 1 1 ABCC8 mutations D209E 1 1 D212N 2 1 D212I 4 0 V324M 1 1 L451P 2 1 R826W 1 0 R1183W 4 2 R1183Q 1 0 R1380C 1 0 R1380H 1 1 Data are median (range), unless otherwise indicated. Login to comment

PMID: 19496964 [PubMed] Wiedemann B et al: "Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register."

No. Sentence Comment

54 A paternally inherited ABCC8 missense mutation, L451P (c.1352T > C; p.Leu451Pro), was found in two female siblings (patient 5 and 6) who have been reported previously (5). Login to comment