ABCC7 p.Tyr913*
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PMID: 21184098
[PubMed]
de Becdelievre A et al: "Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy."
No.
Sentence
Comment
162
[Y913X] c.[1519_1521delATC]?
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ABCC7 p.Tyr913* 21184098:162:1
status: NEW
PMID: 15858154
[PubMed]
Schrijver I et al: "Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum."
No.
Sentence
Comment
95
Y913X A male newborn of European/Brazilian ancestry, with meconium ileus at birth and severe pancreatic insufficiency was found to have ⌬F508 and two additional mutations, including the novel Y913X in exon 15.
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ABCC7 p.Tyr913* 15858154:95:0
status: NEWX
ABCC7 p.Tyr913* 15858154:95:199
status: NEW97 The novel Y913X results in a premature termination codon resulting from a TϾA change at nucleotide 2872, while the third mutation is a known Table 1.
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ABCC7 p.Tyr913* 15858154:97:10
status: NEW100 Moreover, if I1027T is in cis with ⌬F508, little additional effect would be expected as ⌬F508 is a "severe" allele, whereas if it is in cis with the novel Y913X, the premature termination of translation would occur before reaching I1027T, and no additional effect might result.
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ABCC7 p.Tyr913* 15858154:100:169
status: NEW102 Novel Variants Detected in 257 Hispanic Patients Patient Novel variant 1 Other variants Age and symptoms 1 1429del7bp G542X Newborn with intestinal blockage 2 S573C None 9 years old, pancreatitis, limited clinical history 3 Y913X deltaF508/I1027T 1 month old, vomiting, weight loss, diarrhea 4 E588V deltaF508/R1438W Identified one time in a family, family studies revealed deltaF508 and R1438W are in cis 5 E588V G542X Newborn with pneumonia and sweat chloride of 59 mmol/L 6 P439S R668C 10 years old with mild CF symptoms; another patient with CBAVD has P439S/R334W 7 T604S deltaF508 1 month old 8 874insTACA deltaF508 Newborn with meconium ileus and IUGR 9 2585delT deltaF508/I1027T 13 years old with CF 10 1811 ϩ 1 G to A None 44 years old with positive sweat chloride; also seen in 5-year-old CF patient with 3821delT mutation 11 I285F None 1 year old with chronic respiratory problems, also carries a silent mutation at A455 12 P1372L None 1 month old, rule out CF 13 3271 ϩ 8 A to G None 16 years old, borderline sweat test 14 1341 ϩ 80 G to A None Recurrent sinusitis 15 1525 - 42 G to A None Two patients, one 9 years old with FTT, and one 18 months old with chronic lung disease, pulmonary hypotension, hypoxia CBAVD, congenital bilateral absence of the vas deference; IUGR, intrauterine growth retardation.
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ABCC7 p.Tyr913* 15858154:102:224
status: NEW186 Table 3. Continued CFTR mutations Alleles Relative mutation frequency (%) (of 317) G567A 1 Ͻ1 S573C 1 Ͻ1 E585X 1 Ͻ1 T604S 1 Ͻ1 F693L 1 Ͻ1 V754 mol/L 1 Ͻ1 2108delA 1 Ͻ1 2184delA 1 Ͻ1 2215insG 1 Ͻ1 2585delT 1 Ͻ1 2752 - 6TϾC 1 Ͻ1 E831X 1 Ͻ1 D836Y 1 Ͻ1 Y913X 1 Ͻ1 S945L 1 Ͻ1 L967S 1 Ͻ1 3171delC 1 Ͻ1 3199del6 1 Ͻ1 3271 ϩ 8AϾG 1 Ͻ1 R1066H 1 Ͻ1 R1070W 1 Ͻ1 Y1092X 1 Ͻ1 W1098C 1 Ͻ1 3500 - 2AϾT 1 Ͻ1 4016insT 1 Ͻ1 4374 ϩ 13AϾG 1 Ͻ1 D1152H 1 Ͻ1 R1158X 1 Ͻ1 R1162X 1 Ͻ1 W1282X 1 Ͻ1 N1303K 1 Ͻ1 Q1313X 1 Ͻ1 P1372L 1 Ͻ1 R1438W 1 Ͻ1 Total 317 100 Table 3.
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ABCC7 p.Tyr913* 15858154:186:333
status: NEW214 Four of the novel mutations (1429del7bp,Y913X, 874insTACA, and 2585delT) result in premature termination codons.
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ABCC7 p.Tyr913* 15858154:214:40
status: NEW