ABCD4 p.Asn141Lys
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PMID: 23141461
[PubMed]
Kim JC et al: "Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing."
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104
The c.423C>G mutation identified in the ABCD4 gene creates an asparagine to lysine substitution, p.N141K, affecting a residue that is evolutionarily conserved down to the zebrafish (http:// genome.ucsc.edu).
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ABCD4 p.Asn141Lys 23141461:104:99
status: NEW109 However, since the function of ABCD4 remains unknown, the potential impact of the p.N141K mutation on protein function cannot be predicted.
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ABCD4 p.Asn141Lys 23141461:109:84
status: NEW123 (B) DNA sequencing chromatograms of the ABCD4 c.423C>G (p.N141K) mutation.
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ABCD4 p.Asn141Lys 23141461:123:58
status: NEW