Variant position: 19 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 250 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 MAVCGLGSRLGLGSRLGL RGCFGAARLLYPRFQSRGPQG
Mouse MAV------WLFGGRLGL RGRLSACRLLCPRFQSRGPQG
Bovine MAV------WGPGGRLGL RGCLGARKLLCPRFQSRGPQG
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 – 32 Mitochondrion
Identification of the gene responsible for the cblB complementation group of vitamin B(12)-dependent methylmalonic aciduria.
Dobson C.M.; Wai T.; Leclerc D.; Kadir H.; Narang M.; Lerner-Ellis J.P.; Hudson T.J.; Rosenblatt D.S.; Gravel R.A.;
Hum. Mol. Genet. 11:3361-3369(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS MMAB THR-135; TRP-191 AND LYS-193; VARIANTS GLN-19; TRP-186 AND LYS-239;
Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant.
Leal N.A.; Park S.D.; Kima P.E.; Bobik T.A.;
J. Biol. Chem. 278:9227-9234(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS GLN-19 AND LYS-239; INVOLVEMENT IN DISEASE;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS GLN-19 AND LYS-239;
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.