UniProtKB/Swiss-Prot P31327: Variant p.Thr344Ala

Carbamoyl-phosphate synthase [ammonia], mitochondrial
Gene: CPS1
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Variant information Variant position:

344 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Alanine (A) at position 344 (T344A, p.Thr344Ala). 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 small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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:

No negative effect on protein stability, enzyme activity and thermal stability. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1047883 [ dbSNP | Ensembl ]

Sequence information Variant position:

344 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1500 The length of the canonical sequence.
Location on the sequence:

NITNKQAFITAQNHGYALDN T LPAGWKPLFVNVNDQTNEGI 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                         NITNKQAFITAQNHGYALDNTLPAGWKPLFVNVNDQTNEGI

Mouse                         NITNRQAFITAQNHGYALDNTLPAGWKPLFVNVNDQTNEGI

Rat                           NITNRQAFITAQNHGYALDNTLPAGWKPLFVNVNDQTNEGI

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
Chain	39 – 1500	Carbamoyl-phosphate synthase [ammonia], mitochondrial
Domain	219 – 404	Glutamine amidotransferase type-1
Alternative sequence	1 – 451	Missing. In isoform 2.

Literature citations
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.
Finckh U.; Kohlschuetter A.; Schaefer H.; Sperhake K.; Colombo J.-P.; Gal A.;
Hum. Mutat. 12:206-211(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT CPS1D MET-544; VARIANT ALA-344; Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene.
Summar M.L.; Hall L.D.; Eeds A.M.; Hutcheson H.B.; Kuo A.N.; Willis A.S.; Rubio V.; Arvin M.K.; Schofield J.P.; Dawson E.P.;
Gene 311:51-57(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ALA-344; SER-1376 AND ASN-1406; Homo sapiens protein coding cDNA.
Totoki Y.; Toyoda A.; Takeda T.; Sakaki Y.; Tanaka A.; Yokoyama S.; Ohara O.; Nagase T.; Kikuno R.F.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3); VARIANT ALA-344; Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool.
Diez-Fernandez C.; Martinez A.I.; Pekkala S.; Barcelona B.; Perez-Arellano I.; Guadalajara A.M.; Summar M.; Cervera J.; Rubio V.;
Hum. Mutat. 34:1149-1159(2013)
Cited for: VARIANTS CPS1D ASP-355; CYS-389; ARG-390; PRO-438; MET-544; THR-1378; SER-1381 AND ALA-1443; VARIANTS ALA-344 AND SER-1376; CHARACTERIZATION OF VARIANTS CPS1D ASP-355; CYS-389; ARG-390; PRO-438; MET-544; THR-1378; SER-1381 AND ALA-1443; CHARACTERIZATION OF VARIANTS ALA-344 AND SER-1376; SUBUNIT; PROTEOLYTIC CLEAVAGE; BIOPHYSICOCHEMICAL PROPERTIES; ACTIVITY REGULATION; CATALYTIC ACTIVITY;

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.