Variant position: 191 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 ILPSGGKISSALHFCRAVCR RAERRVVPLVQMGETDANVAK
Mouse ILPSGGKSSSALHFCRAVCR RAERRVVPLVQMGETDANVAK
Bovine ILPSGGKSSSALHFCRAVCR RAERRVVPLVQTGETDANVVK
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.
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;
Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.
Martinez M.A.; Rincon A.; Desviat L.R.; Merinero B.; Ugarte M.; Perez B.;
Mol. Genet. Metab. 84:317-325(2005)
Cited for: VARIANTS MMAB THR-96 AND TRP-191;
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
Merinero B.; Perez B.; Perez-Cerda C.; Rincon A.; Desviat L.R.; Martinez M.A.; Sala P.R.; Garcia M.J.; Aldamiz-Echevarria L.; Campos J.; Cornejo V.; Del Toro M.; Mahfoud A.; Martinez-Pardo M.; Parini R.; Pedron C.; Pena-Quintana L.; Perez M.; Pourfarzam M.; Ugarte M.;
J. Inherit. Metab. Dis. 31:55-66(2008)
Cited for: VARIANTS MMAB THR-96; TRP-186 AND TRP-191;
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