Variant position: 319 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 GDLSPAELSTLVSKNAFVCI YLISCFTQLIDLSTTLSDVAG
Mouse GDLSPTELSTLVSKNAFVCI YLISCFTQLIDLSTTLSDVAG
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
314 – 334 Helical
39 – 332 ABC transmembrane type-1
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
Coelho D.; Kim J.C.; Miousse I.R.; Fung S.; du Moulin M.; Buers I.; Suormala T.; Burda P.; Frapolli M.; Stucki M.; Nurnberg P.; Thiele H.; Robenek H.; Hohne W.; Longo N.; Pasquali M.; Mengel E.; Watkins D.; Shoubridge E.A.; Majewski J.; Rosenblatt D.S.; Fowler B.; Rutsch F.; Baumgartner M.R.;
Nat. Genet. 44:1152-1155(2012)
Cited for: FUNCTION; VARIANT MAHCJ CYS-319;
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