PMID: 23141461

Kim JC, Lee NC, Hwu PW, Chien YH, Fahiminiya S, Majewski J, Watkins D, Rosenblatt DS
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.
Mol Genet Metab. 2012 Dec;107(4):664-8. doi: 10.1016/j.ymgme.2012.10.005. Epub 2012 Oct 16., [PubMed]
Sentences
No. Mutations Sentence Comment
104 ABCD4 p.Asn141Lys
X
ABCD4 p.Asn141Lys 23141461:104:99
status: NEW
view ABCD4 p.Asn141Lys details
 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). Login to comment 109 ABCD4 p.Asn141Lys
X
ABCD4 p.Asn141Lys 23141461:109:84
status: NEW
view ABCD4 p.Asn141Lys details
 However, since the function of ABCD4 remains unknown, the potential impact of the p.N141K mutation on protein function cannot be predicted. Login to comment 123 ABCD4 p.Asn141Lys
X
ABCD4 p.Asn141Lys 23141461:123:58
status: NEW
view ABCD4 p.Asn141Lys details
 (B) DNA sequencing chromatograms of the ABCD4 c.423C>G (p.N141K) mutation. Login to comment