ABCMdb

ABCC7 p.Asn1088Asp

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Publications

PMID: 11788090 [PubMed] Strandvik B et al: "Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations."

No. Sentence Comment

27 MUTATIONS IDENTIFIED IN 258 CHROMOSOMES IN THE CF POPULATION ATTENDING THE SOUTH-WESTERN SWEDISH CF CENTRE Location in the Frequency of Mutation gene, exon Number of mutations mutation (%) Homozygotes Heterozygotes DF508 10 161 62.4 56 49 394delTT 3 13 5.0 3 7 R117C 4 7 2.7 7 3659delC 19 5 1.9 5 E60X 3 4 1.6 4 1112delT 7 4 1.6 1 2 R764X 13 4 1.6 1 2 621 1 1G ® T 4 3 1.2 3 G551D 11 2 0.8 2 I506L 10 2 0.8 2 N1088D (R75Q) 17b 2 0.8 2 Q1238X 19 2 0.8 2 R117H (IVS8-5T) 4 2 0.8 2 V603F (IVS8-5T) 13 2 0.8 2 1716G ® A 10 2 0.8 2 R75Q 3 2 0.8 2 R533X 11 1 0.4 1 2329A ® G Promoter 1 0.4 1 297-3 C ® A 2 1 0.4 1 Y161D 4 1 0.4 1 994del9 Exon/intron 6b 1 0.4 1 1154insTC 7 1 0.4 1 W361R 7 1 0.4 1 T338I 7 1 0.4 1 1249-5A ® G Intron 7 1 0.4 1 1717-2A ® G Intron 10 1 0.4 1 R560T 11 1 0.4 1 E1401X 23 1 0.4 1 3126del4 17a 1 0.4 1 S945L 15 1 0.4 1 R668C 13 1 0.4 1 2622 1 2del6 Intron 13 1 0.4 1 R1162Q Exon 19 1 0.4 1 3849 1 10kbC ® T Intron 19 1 0.4 1 R74W Exon 3 1 0.4 1 2363C ® T Promoter 1 0.4 1 IVS8-5Ta Intron 8 1 0.4 1 Unidentified 20 7.8 Total 258 100 61 116 The new mutations are displayed in bold. Login to comment
75 CLINICAL DATA FOR THE CF PATIENTS CARRYING NEW MUTATIONS Age PI Lung Sweat (years) at or disease Cl Mutations diagnosis PSb (severity) (mmol/liter) Additional symptoms Frameshift 1112delT/1112delT 4 PI 111 110 1112delT/DF508 0.3 PI 111 112 1112delT/DF508 0.2a PI 111 110 3126del4/E60X 2 PI 11 130 994del9/DF508 0.08 PI 2 120 Meconium ileus RNA splice 297-3C ® A/DF508 0.3 PI 1 120 2622 1 2del6/DF508 0.25 PI 111 100 Nonsense E1401X/unknown 6 PS 2 52 Poor growth, fat malabsorption, abnormal electrophysiological response in the intestinal mucosal biopsy Missense V603F, IVS8-5T/DF508 2 PI 1 101 N1088D, R75Q/DF508 4a PS 2 78 N1088D, R75Q/DF508 2 PS 2 75 Y161D/DF508 0.4 PI 1 83 Malabsorption I506L/DF508 42.5 PS 111 103 I506L/3659delC 30 PS 111 80 R1162Q/unknown nvc PS 1 6 Frequent pneumonias V603F, IVS8-5T/unknown nvc PS (1) 24 Sinusitis, severe recurrent hypoglycemia, nasal polyps, abdominal pain Promoter? Login to comment
116 N1088D. Login to comment
119 The N1088D was found in two siblings (genotype N1088D/DF508) with PS, and mild or no lung disease. Login to comment
120 There was a third CFTR variant, R75Q, found in these patients and associated with the N1088D allele. Login to comment
172 The remaining missense variants (I506L, N1088D, and R1162Q) can be classified as mild alleles because they are associated with a milder CF phenotypein genotypes with a severe second allele. Login to comment

PMID: 12001283 [PubMed] Schaedel C et al: "Predictors of deterioration of lung function in cystic fibrosis."

No. Sentence Comment

121 TABLE 3CFTR Mutations Associated With Pancreatic Sufficiency in Swedish CF Population Y109C S549I/S549I Y109N S945L R117C N1088D À R75Q R117H G1244E L206W 711 þ 3A !G T338I 1249 À 5A !G A455E 2789 þ 5G ! Login to comment

PMID: 17400678 [PubMed] Keen C et al: "Airway nitric oxide in patients with cystic fibrosis is associated with pancreatic function, Pseudomonas infection, and polyunsaturated fatty acids."

No. Sentence Comment

30 Patients in group 3 were heterozygous for mutations dF508 and V603F, R560T, or 621 ϩ 1G-T; group 4 patients were heterozygous for mutations dF508, 3659del C, or 394delTT and a mutation linked to a "mild" phenotype (eg, N1088D, R117C, R117H, R75Q, R658X, S945L, 1154insTC, or T338I). Login to comment

PMID: 18493878 [PubMed] Paranjape SM et al: "Atypical cystic fibrosis and CFTR-related diseases."

No. Sentence Comment

64 Determination of the transepithelial nasal potential difference has been beneficial in establishing a CF Table 1 Mutations, sites, and molecular consequences associated with either an atypical presentation of CF respiratory disease or pancreatic sufficiency or late-onset pancreatic insufficiency (http:// www.genet.sickkids.on.ca) Mutation Site Consequence Atypical presentation M1210I Exon 19 Met to Ile at 1210 S1455X Exon 24 Ser to Stop at 1455 1811+18G→A Intron 11 mRNA splicing defect L346P Exon 7 Leu to Pro at 346 Y161D Exon 4 Tyr to Asp at 161 R31C Exon 2 Arg to Cys at 31 I752S Exon 13 Ile to Ser at 752 2811G/T Exon 15 Sequence variation Pancreatic sufficiency or late-onset pancreatic insufficiency R600G Exon 13 Arg to Gly at 600 D1152H Exon 18 Asp to His at 1152 Y89C Exon 3 Tyr to Cys at 89 R117H Exon 4 Arg to His at 117 D110E Exon 4 Asp to Glu at 110 296 + 3insT Intron 2 mRNA splicing defect E217G Exon 6a Glu to Gly at 217 V392G Exon 8 Val to Gly at 392 N1088D Exon 17b Asn to Asp at 1088 S737F Exon 13 Missense 1716+1G→A Intron 10 mRNA splicing defect R334W Exon 7 Arg to Trp at 334 R347P Exon 7 Arg to Pro at 347 A455E Exon 9 Ala to Glu at 455 P574H Exon 12 Pro to His at 574 3850-3T→G Intron 19 mRNA splicing defect diagnosis in many atypical cases. Login to comment

PMID: 20615085 [PubMed] Drain S et al: "Multidrug resistance in the chronic lymphoproliferative disorders."

No. Sentence Comment

188 Exon rs designation Allele change Synonymous/ non-synonymous Residue effect 3 rs28381804 C-T Non-synonymous Leu-17-Phe 3 rs41304191 T-C Synonymous Leu-19-Leu 3 rs9332385 A-G Synonymous Leu-19-Leu 3 rs9282564 G-A Non-synonymous Leu-21-Asn 5 rs1202183 G-A Non-synonymous Ser-44-Asn 5 rs41315618 C-A Non-synonymous Leu-60-Ile 5 rs9282565 A-C Non-synonymous Glu-80-Ala 5 rs35810889 C-T Non-synonymous Thr-89-Met 7 rs61607171 C-T Non-synonymous Thr-144-Ile 7 rs61122623 A-G Non-synonymous Ile-168-Val 8 rs1128500 T-C Synonymous Ser-180-Ser 8 rs60419673 G-A Non-synonymous Ser-183-Asn 8 rs1128501 T-G Non-synonymous Val-185-Gly 8 rs1128502 T-A Synonymous Gly-185-Gly 9 rs2235022 G-A Synonymous Glu-243-Glu 9 rs28381867 A-G Synonymous Ala-246-Ala 9 rs36008564 G-A Non-synonymous Val-261-Ile 12 rs2229109 A-G Non-synonymous Asn-400-Ser 13 rs1128503 C-T{ Synonymous Gly-412-Gly 13 rs35068177 G-A Synonymous Thr-436-Thr 13 rs41311775 A-G Synonymous Arg-442-Arg 15 rs35633772 T-C Synonymous Ile-539-Ile 15 rs60247941 G-T Synonymous Ala-544-Ala 15 rs2235012 C-G Synonymous Leu-554-Leu 15 rs56871767 A-G Synonymous Thr-558-Thr 15 rs59697741 T-C Synonymous Ser-565-Ser 15 rs28381902 A-G Non-synonymous Lys-566-Glu 16 rs28381914 T-C Non-synonymous Cys-593-Arg 16 rs56107566 A-G Non-synonymous His-593-Arg 16 rs28381915 T-C Synonymous Ile-598-Ile 16 rs2235036 A-G Non-synonymous Thr-599-Ala 16 rs57001392 T-G Non-synonymous Tyr-613-Asp 17 rs35657960 G-T Non-synonymous Arg-662-Leu 17 rs35023033 T-C Non-synonymous Cys-669-Arg 17 rs59340265 T-C Synonymous Asp-679-Asp 18 rs41316450 A-T Non-synonymous Lys-736-Ile 21 rs41305517 A-G Non-synonymous Asn-800-Asp 21 rs2235039 A-G Non-synonymous Met-801-Val 22 rs2032581 G-A Non-synonymous Val-829-Ile 22 rs28381966 G-A Synonymous Val-835-Val 22 rs28381967 G-A Non-synonymous Val-836-Ile 22 rs36105130 G-A Non-synonymous Met-849-Ile 22 rs9282563 T-C Synonymous Leu-884-Leu 22 rs2032582 G-T/A{ Non-synonymous Thr-893-Ala/Ser 25 rs56849127 A-G Non-synonymous Asn-992-Ser 25 rs72552784 A-G Non-synonymous Thr-999-Ala 25 rs2235044 A-G Synonymous Pro-1028-Pro 26 rs28401798 G-C Non-synonymous Ala-1051-Pro 26 rs2707944 C-G Non-synonymous Ala-1063-Gly 26 rs2707943 G-C Synonymous Gly-1063-Gly 26 rs57521326 A-G Non-synonymous Asn-1088-Asp 27 rs41309225 G-A Non-synonymous Glu-1099-Lys 27 rs55852620 C-A Non-synonymous Pro-1107-Gln 27 rs35730308 C-T Non-synonymous Arg-1108-Trp 27 rs34748655 T-C Synonymous Ala-1132-Ala 27 rs41309228 T-G Non-synonymous Ile-1137-Ser 27 rs2229107 A-T Non-synonymous Thr-1141-Ser 27 rs1045642 C-T{ Synonymous Ile-1145-Ile 28 rs59241388 G-A Non-synonymous Glu-1168-Lys 29 rs41309231 T-A Non-synonymous Asp-1223-Glu (continued) P-gp [78]. Login to comment