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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O14678: Variant p.Asn141Lys

Lysosomal cobalamin transporter ABCD4
Gene: ABCD4
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Variant information Variant position: help 141 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Asparagine (N) to Lysine (K) at position 141 (N141K, p.Asn141Lys). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (N) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In MAHCJ; does not affect ATPase activity. Loss of cobalamin transport activity. Decreases interaction with LMBD1. Does not affect lysosomal subcellular location. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 141 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 606 The length of the canonical sequence.
Location on the sequence: help RLYFRGRAYYTLNVLRDDID N PDQRISQDVERFCRQLSSMA 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         RLYFRGRAYYTLNVLRDDIDNPDQRISQDVERFCRQLSSMA

Mouse                         HLYFRARVYYTLNVLRDDIDNPDQRISQDVERFCRQLSSVT
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 606 Lysosomal cobalamin transporter ABCD4
Domain 39 – 332 ABC transmembrane type-1
Mutagenesis 141 – 141 N -> AD. Does not affect ATPase nor cobalamin transport activities.



Literature citations
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;
Disclaimer: 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.