Variant position: 26 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 354 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 RILLNNAAFRNGHNFMVRNF RCGQPLQNKVQLKGRDLLTLK
Mouse RILLNNAALRKGHTSVVRHF WCGKPVQSQVQLKGRDLLTLK
Rat RILLNKAALRKAHTSMVRNF RYGKPVQSQVQLKGRDLLTLK
Bovine RTLLNNAALRNGHNFVVRNF RCGQPLQDKVQLKGRDLLTLK
Sheep RTLLNNAALRNGHNFVVRNF RCGQPVQDKVQLKGRDLLTLK
Chicken KNLYRITKLTQNSKHLPRHF CRGPPNQMNVCLKGRDLLTLQ
Baker's yeast ------MSTTASTPSSLRH- ----------------LISIK
Fission yeast ----------MSFKKFPRH- ----------------LLSIR
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
15 – 15 R -> G. Loss of cleavage of the transit peptide and loss of localization to mitochondrial matrix; when associated with G-23 and G-26.
23 – 23 R -> G. Loss of cleavage of the transit peptide and loss of localization to mitochondrial matrix; when associated with G-15 and G-26.
26 – 26 R -> G. Loss of cleavage of the transit peptide and loss of localization to mitochondrial matrix; when associated with G-15 and G-23.
Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage.
Grompe M.; Muzny D.M.; Caskey C.T.;
Proc. Natl. Acad. Sci. U.S.A. 86:5888-5892(1989)
Cited for: VARIANTS OTCD GLN-26; PRO-45 AND GLU-216; VARIANT ARG-46;
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