ABCA1 p.Leu1097Pro
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PMID: 26616730
[PubMed]
Murano T et al: "Subfraction analysis of circulating lipoproteins in a patient with Tangier disease due to a novel ABCA1 mutation."
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3
The patient was shown to be homozygous for a novel mutation (Leu1097Pro) in the central cytoplasmic region of ATP-binding cassette transporter A1 (ABCA1).
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ABCA1 p.Leu1097Pro 26616730:3:61
status: NEW71 The patient had a novel homozygous T to C nucleotide substitution in exon 23 resulting in Leu1097Pro.
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ABCA1 p.Leu1097Pro 26616730:71:90
status: NEW80 Gene analysis Direct sequencing of the ABCA1 gene in comparison to a reference sequence (NM_005502) showed that the patient had a novel homozygous T to C nucleotide substitution in exon 23, resulting in Leu1097Pro [c.3290 T N C (p. Leu1097Pro)] (Fig. 2).
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ABCA1 p.Leu1097Pro 26616730:80:203
status: NEWX
ABCA1 p.Leu1097Pro 26616730:80:232
status: NEW119 The nucleotide substitution results in Leu1097Pro [c.3290 T N C (p. Leu1097Pro)].
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ABCA1 p.Leu1097Pro 26616730:119:39
status: NEWX
ABCA1 p.Leu1097Pro 26616730:119:68
status: NEW