Variant position: 83 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 725 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 HCISESDK-YDLKTETAPLVV VVSTTGTGDPPDTARKFVKEI
Mouse HCISESEK-YDLKTETGPLVM VVSTTGTGDPPDTARKFVKE
Rat HCVSESEK-YDLKTETGPLVM VVSTTGTGDPPDTARKFVKE
Bovine HCISESDK-YDLKTETAPLVM VVSTTGNGDPPDTARKFVKA
Caenorhabditis elegans HALDENEKKFNLNEE-KLCAI VVSSTGDGDAPDNCARFVRR
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 – 725 Methionine synthase reductase
32 – 174 Flavodoxin-like
71 – 85 YDLKTETAPLVVVVS -> VSVIQNTPTFAMGGR. In isoform C.
Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism.
Wilson A.; Leclerc D.; Rosenblatt D.S.; Gravel R.A.;
Hum. Mol. Genet. 8:2009-2016(1999)
Cited for: VARIANTS HMAE VAL-81 DEL; MET-83; THR-156; ARG-432; ARG-514 AND ARG-581; VARIANT VAL-360;
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.