Variant position: 1545 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 3623 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 NYPSPYRSNTDCSWVIRVDR NHRVLLNFTDF------------------DLEPQDSC----------IM
Mouse NYPNNYRANTECSWIIQVEK YHRVLLNITDF----------
Rat NYPNNYRANTECSWIIQVER HHRVLLNITDF----------
Caenorhabditis elegans GYPSAYLPGIKCNFLINAPP GYHIEYALEKYYSPYYHDDRK
Drosophila NYPLNYPAHSRCEWQVEVSQ HHQIVFEMADL----------
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.
The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region.
Kozyraki R.; Kristiansen M.; Silahtaroglu A.; Hansen C.; Jacobsen C.; Tommerup N.; Verroust P.J.; Moestrup S.K.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; PROTEIN SEQUENCE OF 36-41; FUNCTION; BINDING TO THE GIF-COBALAMIN COMPLEX; PROTEOLYTIC PROCESSING; VARIANTS SER-253; TYR-1545; ILE-1769; TYR-2162 AND TRP-2717;
Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.
Aminoff M.; Carter J.E.; Chadwick R.B.; Johnson C.; Graesbeck R.; Abdelaal M.A.; Broch H.; Jenner L.B.; Verroust P.J.; Moestrup S.K.; de la Chapelle A.; Krahe R.;
Nat. Genet. 21:309-313(1999)
Cited for: VARIANT RH-MGA1 LEU-1297; VARIANTS ILE-124; SER-253; THR-389; HIS-1032; TYR-1545; SER-1559; ILE-1769; PHE-2153; ARG-2575; ARG-2691; ILE-2879; VAL-2984; GLY-3002; ILE-3422 AND LYS-3552;
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.