UniProtKB/Swiss-Prot P31327: Variant p.Thr1406Asn

Carbamoyl-phosphate synthase [ammonia], mitochondrial
Gene: CPS1
Feedback?

Variant information Variant position:

1406 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 Asparagine (N) at position 1406 (T1406N, p.Thr1406Asn). 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:

Similar physico-chemical property. Both residues are medium size and polar. 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:

Probable risk factor for PHN. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1047891 [ dbSNP | Ensembl ]

Sequence information Variant position:

1406 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:

FKLFATEATSDWLNANNVPA T PVAWPSQEGQNPSLSSIRKL 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                         FKLFATEATSDWLNANNVPATPVAWPSQEGQNPSLSSIRKL

Mouse                         FKLFATEATSDWLNANNVPATPVAWPSQEGQNPSLSSIRKL

Rat                           FKLFATEATSDWLNANNVPATPVAWPSQEGQNPSLSSIRKL

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	1355 – 1500	MGS-like
Binding site	1391 – 1391
Binding site	1394 – 1394
Binding site	1410 – 1410
Modified residue	1419 – 1419	Phosphoserine
Beta strand	1406 – 1408

Literature citations
Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: molecular analysis of hyperammonemia.
Haraguchi Y.; Uchino T.; Takiguchi M.; Endo F.; Mori M.; Matsuda I.;
Gene 107:335-340(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS SER-1266; LEU-1283 AND ASN-1406; 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; Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions.
Funghini S.; Donati M.A.; Pasquini E.; Zammarchi E.; Morrone A.;
Hum. Mutat. 22:340-341(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); VARIANTS CPS1D GLY-457 AND ARG-810; VARIANT ASN-1406; Neonatal pulmonary hypertension -- urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function.
Pearson D.L.; Dawling S.; Walsh W.F.; Haines J.L.; Christman B.W.; Bazyk A.; Scott N.; Summar M.L.;
N. Engl. J. Med. 344:1832-1838(2001)
Cited for: VARIANT ASN-1406; INVOLVEMENT IN PHN; The T1405N carbamoyl phosphate synthetase polymorphism does not affect plasma arginine concentrations in preterm infants.
Moonen R.M.; Reyes I.; Cavallaro G.; Gonzalez-Luis G.; Bakker J.A.; Villamor E.;
PLoS ONE 5:E10792-E10792(2010)
Cited for: VARIANT ASN-1406; Personalized genomic medicine: lessons from the exome.
Solomon B.D.; Pineda-Alvarez D.E.; Hadley D.W.; Teer J.K.; Cherukuri P.F.; Hansen N.F.; Cruz P.; Young A.C.; Blakesley R.W.; Lanpher B.; Mayfield Gibson S.; Sincan M.; Chandrasekharappa S.C.; Mullikin J.C.;
Mol. Genet. Metab. 104:189-191(2011)
Cited for: VARIANTS VAL-530 AND ASN-1406; Large-scale quantification of single amino-acid variations by a variation-associated database search strategy.
Song C.; Wang F.; Cheng K.; Wei X.; Bian Y.; Wang K.; Tan Y.; Wang H.; Ye M.; Zou H.;
J. Proteome Res. 13:241-248(2014)
Cited for: VARIANT ASN-1406;

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.