Variant position: 125 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 GGHPCFLTTQDIHLGVNESL TDTARVLSSMADAVLARVYKQ
Mouse GGHPSFLTTQDIHLGVNESL TDTARVLSSMTDAVLARVYKQ
Rat GGHPSFLTTQDIHLGVNESL TDTARVLSSMTDAVLARVYKQ
Bovine GGHPCFLTTDDIHLGVNESL TDTARVLSSMTDAVLARVYKQ
Sheep GGHPCFLTTDDIHLGVNESL TDTARVLSSMTDAVLARVYKQ
Chicken GGHSSFLTKQDIHLGTNESL TDTARVLSSMTNAILARVYKH
Baker's yeast GAQPMFLGKEDIQLGVNESF YDTTKVVSSMVSCIFARVNKH
Fission yeast GGNAMFLGKDDIQLGVNESL YDTSKVISSMVSGIVARVNKY
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 transcarbamylase, mitochondrial
141 – 141 Carbamoyl phosphate
141 – 141 Ornithine
133 – 133 Phosphoserine
144 – 144 N6-acetyllysine; alternate
144 – 144 N6-succinyllysine; alternate
124 – 134
Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.
Gilbert-Dussardier B.; Segues B.; Rozet J.-M.; Rabier D.; Calvas P.; de Lumley L.; Bonnefont J.-P.; Munnich A.;
Hum. Mutat. 8:74-76(1996)
Cited for: VARIANTS OTCD MET-125; ARG-188; VAL-209 AND LEU-302;
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.