Variant position: 141 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 606 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human RLYFRGRAYYTLNVLRDDID NPDQRISQDVERFCRQLSSMA
Mouse HLYFRARVYYTLNVLRDDID NPDQRISQDVERFCRQLSSVT
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 606 Lysosomal cobalamin transporter ABCD4
39 – 332 ABC transmembrane type-1
141 – 141 N -> AD. Does not affect ATPase nor cobalamin transport activities.
Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.
Fettelschoss V.; Burda P.; Sagne C.; Coelho D.; De Laet C.; Lutz S.; Suormala T.; Fowler B.; Pietrancosta N.; Gasnier B.; Bornhauser B.; Froese D.S.; Baumgartner M.R.;
J. Biol. Chem. 292:11980-11991(2017)
Cited for: INVOLVEMENT IN MAHCJ; VARIANT MAHCJ GLN-432; CHARACTERIZATION OF VARIANTS MAHCJ LYS-141 AND GLN-432; SUBCELLULAR LOCATION; INTERACTION WITH LMBRD1; MUTAGENESIS OF GLY-426; LYS-427 AND ASP-548; FUNCTION; CATALYTIC ACTIVITY;
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.
Kim J.C.; Lee N.C.; Hwu P.W.; Chien Y.H.; Fahiminiya S.; Majewski J.; Watkins D.; Rosenblatt D.S.;
Mol. Genet. Metab. 107:664-668(2012)
Cited for: VARIANT MAHCJ LYS-141; INVOLVEMENT IN MAHCJ;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.