ABCC6 p.Leu953His

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PMID: 11536079 [PubMed] Le Saux O et al: "A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum."
No. Sentence Comment
129 Premature termination mutations frequently result in the nonsense-mediated decay (NMD) of mutant mRNA products and significantly reduce mutant transcript levels (Maquat 1996; Nagy and Table 3 Missense Neutral Variants Identified in the ABCC6 Gene in a Cohort of 122 Patients CHANGE IN STATUS a ORIGIN(S)b EXON(S) NO. OF ALLELES/ PXE CHROMOSOMES NO. OF ALLELES/ CONTROL CHROMOSOMES c Amino Acid Nucleotide G61D 182GrA ht SA 2 1/244 0/200 G207R 619GrA ht Belgium 6 1/244 0/200 R265G 793ArG ht Belgium 7 1/244 0/200 K281Ed 841ArG ht, hm SA 8 5/8d Nd I319Vd 955ArG ht, hm SA 8 5/8d Nd N497K 1489CrA ht Belgium 12 1/244 0/200 V614A 1841TrC ht, hm All 14 200/244 163/200 H632Qd 1896CrA ht, hm SA, Belgium 15 17/24d Nd L953H 2858TrA ht US 22 1/244 0/200 W1241C 3723GrC ht Germany 26 1/244 0/200 R1268Q 3803GrA ht All 27 23/244 31/200 a ht p heterozygote; hm p homozygote.
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ABCC6 p.Leu953His 11536079:129:715
status: NEW
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PMID: 25062064 [PubMed] Hosen MJ et al: "Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter."
No. Sentence Comment
227 (Leu946Ile) L953 2868T.A L953H Missense 22 p.
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ABCC6 p.Leu953His 25062064:227:25
status: NEW
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228 (Leu953His) R964 2891G.C R964P Missense 22 p.
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ABCC6 p.Leu953His 25062064:228:1
status: NEW
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