UniProtKB/Swiss-Prot Q8N159: Variant p.Leu391Arg

N-acetylglutamate synthase, mitochondrial
Gene: NAGS
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Variant information Variant position:

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

US 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 Leucine (L) to Arginine (R) at position 391 (L391R, p.Leu391Arg). 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 hydrophobic (L) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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 NAGSD; uncertain significance. Any additional useful information about the variant.

Sequence information Variant position:

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

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

FKNAERMLRVRSLDKLDQGR L VDLVNASFGKKLRDDYLASL 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                         FK---------------------------------NAERMLRVRSLDK---------------------------------------LDQGRLVDLVNASFGKKLR-DDYLASL

Mouse                         FK---------------------------------NAERML

Zebrafish                     FK---------------------------------NGDPIR

Baker's yeast                 PRFKKKDGEIDSPANMFDDHAWYELPSQQVNAAPSNSDAVL

Fission yeast                 PR---------------------------------DRSPIT

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	19 – 534	N-acetylglutamate synthase long form
Chain	51 – 534	N-acetylglutamate synthase short form
Chain	92 – 534	N-acetylglutamate synthase conserved domain form
Domain	375 – 526	N-acetyltransferase
Binding site	401 – 401
Helix	388 – 399

Literature citations
Understanding N-acetyl-L-glutamate synthase deficiency: mutational spectrum, impact of clinical mutations on enzyme functionality, and structural considerations.
Sancho-Vaello E.; Marco-Marin C.; Gougeard N.; Fernandez-Murga L.; Ruefenacht V.; Mustedanagic M.; Rubio V.; Haeberle J.;
Hum. Mutat. 37:679-694(2016)
Cited for: VARIANTS NAGSD VAL-167; LEU-260; MET-264; ASN-291; ARG-391; CYS-398; ASP-457 AND CYS-512;

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.