Variant position: 100 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 KSLGMIFEKRSTRTRLSTET GFALLGGHPCFLTTQDIHLGV
Mouse KSLGMIFEKRSTRTRLSTET GFALLGGHPSFLTTQDIHLGV
Rat KSLGMIFEKRSTRTRLSTET GFALLGGHPSFLTTQDIHLGV
Bovine KSLGMIFEKRSTRTRLSTET GFALLGGHPCFLTTDDIHLGV
Sheep KSLGMIFEKRSTRTRLSTET GFALLGGHPCFLTTDDIHLGV
Chicken KSLAMIFEKRSTRTRLSAET GFALLGGHSSFLTKQDIHLGT
Baker's yeast RTIALIFTKRSTRTRISTEG AATFFGAQPMFLGKEDIQLGV
Fission yeast QNVAMIFSKRSTRTRVSVES AVSCLGGNAMFLGKDDIQLGV
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
33 – 354 Ornithine carbamoyltransferase, mitochondrial
80 – 80 N6-succinyllysine
88 – 88 N6-acetyllysine; alternate
88 – 88 N6-succinyllysine; alternate
92 – 103
Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.
Oppliger Leibundgut E.; Liechti-Gallati S.; Colombo J.-P.; Wermuth B.;
Hum. Mutat. 9:409-411(1997)
Cited for: VARIANTS OTCD PRO-63; ASP-100; ASP-183; LYS-213 AND PRO-340; VARIANT PHE-43;
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.