Home  |  Contact

UniProtKB/Swiss-Prot P00480: Variant p.Thr125Met

Ornithine transcarbamylase, mitochondrial
Gene: OTC
Variant information

Variant position:  125
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Threonine (T) to Methionine (M) at position 125 (T125M, p.Thr125Met).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and polar (T) to medium size and hydrophobic (M)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In OTCD; neonatal.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   GGHPCFLTTQDIHLGVNESL  T DTARVLSSMADAVLARVYKQ
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                         GGHPCFLTTQDIHLGVNESLTDTARVLSSMADAVLARVYKQ

Mouse                         GGHPSFLTTQDIHLGVNESLTDTARVLSSMTDAVLARVYKQ

Rat                           GGHPSFLTTQDIHLGVNESLTDTARVLSSMTDAVLARVYKQ

Bovine                        GGHPCFLTTDDIHLGVNESLTDTARVLSSMTDAVLARVYKQ

Sheep                         GGHPCFLTTDDIHLGVNESLTDTARVLSSMTDAVLARVYKQ

Chicken                       GGHSSFLTKQDIHLGTNESLTDTARVLSSMTNAILARVYKH

Baker's yeast                 GAQPMFLGKEDIQLGVNESFYDTTKVVSSMVSCIFARVNKH

Fission yeast                 GGNAMFLGKDDIQLGVNESLYDTSKVISSMVSGIVARVNKY

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.

TypePositionsDescription
Chain 33 – 354 Ornithine transcarbamylase, mitochondrial
Binding site 141 – 141 Carbamoyl phosphate
Binding site 141 – 141 Ornithine
Modified residue 133 – 133 Phosphoserine
Modified residue 144 – 144 N6-acetyllysine; alternate
Modified residue 144 – 144 N6-succinyllysine; alternate
Helix 124 – 134


Literature citations

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;

Disclaimer: 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.