Sequence information
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:
GDLSPAELSTLVSKNAFVCI
Y LISCFTQLIDLSTTLSDVAG
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 GDLSPAELSTLVSKNAFVCIY LISCFTQLIDLSTTLSDVAG
Mouse GDLSPTELSTLVSKNAFVCIY LISCFTQLIDLSTTLSDVAG
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
Chain
1 – 606
Lysosomal cobalamin transporter ABCD4
Transmembrane
314 – 334
Helical
Domain
39 – 332
ABC transmembrane type-1
Literature citations
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;
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.