ABCC7 p.Glu1194Ala
| Predicted by SNAP2: | A: N (66%), C: N (53%), D: N (82%), F: D (59%), G: N (61%), H: D (53%), I: N (57%), K: N (61%), L: N (53%), M: D (53%), N: N (53%), P: D (63%), Q: N (72%), R: D (59%), S: D (53%), T: N (53%), V: N (57%), W: D (66%), Y: D (59%), |
| Predicted by PROVEAN: | A: N, C: N, D: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N, |
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[hide] A haplotype framework for cystic fibrosis mutation... J Mol Diagn. 2006 Feb;8(1):119-27. Elahi E, Khodadad A, Kupershmidt I, Ghasemi F, Alinasab B, Naghizadeh R, Eason RG, Amini M, Esmaili M, Esmaeili Dooki MR, Sanati MH, Davis RW, Ronaghi M, Thorstenson YR
A haplotype framework for cystic fibrosis mutations in Iran.
J Mol Diagn. 2006 Feb;8(1):119-27., [PMID:16436643]
Abstract [show]
This is the first comprehensive profile of cystic fibrosis transmembrane conductance regulator (CFTR) mutations and their corresponding haplotypes in the Iranian population. All of the 27 CFTR exons of 60 unrelated Iranian CF patients were sequenced to identify disease-causing mutations. Eleven core haplotypes of CFTR were identified by genotyping six high-frequency simple nucleotide polymorphisms. The carrier frequency of 2.5 in 100 (1 in 40) was estimated from the frequency of heterozygous patients and suggests that contrary to popular belief, cystic fibrosis may be a common, under-diagnosed disease in Iran. A heterogeneous mutation spectrum was observed at the CFTR locus in 60 cystic fibrosis (CF) patients from Iran. Twenty putative disease-causing mutations were identified on 64 (53%) of the 120 chromosomes. The five most common Iranian mutations together represented 37% of the expected mutated alleles. The most frequent mutation, DeltaF508 (p.F508del), represented only 16% of the expected mutated alleles. The next most frequent mutations were c.1677del2 (p.515fs) at 7.5%, c.4041C>G (p.N1303K) at 5.6%, c.2183AA>G (p.684fs) at 5%, and c.3661A>T (p.K1177X) at 2.5%. Three of the five most frequent Iranian mutations are not included in a commonly used panel of CF mutations, underscoring the importance of identifying geographic-specific mutations in this population.
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No. Sentence Comment
105 Six were exonic polymorphisms that were either silent for an amino acid change or demonstrated to have little or no effect on protein function (p.E92E, p.I148T, p.M470V, p.E1194A, p.P1290P, and p.Q1463Q).
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ABCC7 p.Glu1194Ala 16436643:105:172
status: NEW106 Two of the variants that altered an amino acid (p.M470V and p.E1194A) were observed in at least one patient with two other mutations, adding credence to their assignment as neutral polymorphisms (however, see below).
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ABCC7 p.Glu1194Ala 16436643:106:62
status: NEW107 The CF chromosome carrying p.E1194A also carried the common p.515fs mutation, because the patient was homozygous for the latter.
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ABCC7 p.Glu1194Ala 16436643:107:29
status: NEW115 Four novel polymorphisms were observed in the Iranian CF patients, including c.297-75CϾA, c.408AϾG (p.E92E), c.1716ϩ8AϾG, and c.3713AϾC (p.E1194A).
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ABCC7 p.Glu1194Ala 16436643:115:169
status: NEW128 Putative Polymorphism in the CFTR Gene of Iranian CF Patients Genomic position* Polymorphism designation Location in gene Effect on protein Minor allele frequency DB-SNP number 42296936 c.185ϩ45AϾG Intron 1 1% 42325703 c.297-75CϾA Intron 2 6% 42347645 c.408AϾG Exon 4 E92E 1% 42347812 c.575TϾC Exon 4 I148T 2% 42352195 c.875ϩ40AϾG Intron 6a 2% 42353259 c.876-33delTTGA Intron 6a 45% rs4148700 42353428 c.1001ϩ11CϾT Intron 6b 30% rs1800503 42376147 c.1525-61AϾG Intron 9 35% 42376223 c.1540AϾG Exon 10 M470V 45% rs213950 42376407 c.1716ϩ8AϾG Intron 10 1% 42423325 c.3041-92GϾA Intron 15 15% 42423346 c.3041-71GϾC Intron 15 1% 42423539 c.3271ϩ42AϾT Intron 16b 1% 42427170 c.3272-93TϾC Intron 16b 3% 42444201 c.3601-65CϾA Intron 18 14% rs213989 42444378 c.3713AϾC Exon 19 E1194A 1% 42459334 c.4002AϾG Exon 20 P1290P 3% rs1800130 42459458 c.4005ϩ121delTT Intron 20 2% 42469386 c.4006-200GϾA Intron 20 16% rs214164 42469496 c.4006-90delC Intron 20 2% 42483798 c.4521GϾA Exon 24 Q1463Q 19% rs1800136 *Genomic reference sequence NT_007933.
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ABCC7 p.Glu1194Ala 16436643:128:889
status: NEW