UniProtKB/Swiss-Prot P07902: Variant p.Asn314Asp

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 314 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LP/P [Disclaimer: Variants classification is intended for research purposes only, not for clinical and diagnostic use. The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant.] 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 Asparagine (N) to Aspartate (D) at position 314 (N314D, p.Asn314Asp). 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 (N) to medium size and acidic (D) 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 GALAC1; allele Duarte; exists as allelic variants Duarte-1 and Duarte-2; Duarte-1 has normal or increased activity; Duarte-2 has activity reduced to about 35-45% of normal. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs2070074 [ dbSNP | Ensembl ]

Sequence information

Variant position: 314 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 379 The length of the canonical sequence.
Location on the sequence: FPYSMGWHGAPTGSEAGANW N HWQLHAHYYPPLLRSATVRK 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.
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	1 – 379	Galactose-1-phosphate uridylyltransferase
Binding site	301 – 301
Binding site	319 – 319
Binding site	321 – 321

Literature citations

Cloning of human full-length CDSs in BD Creator(TM) system donor vector.
Kalnine N.; Chen X.; Rolfs A.; Halleck A.; Hines L.; Eisenstein S.; Koundinya M.; Raphael J.; Moreira D.; Kelley T.; LaBaer J.; Lin Y.; Phelan M.; Farmer A.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT ASP-314; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT ASP-314; Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.
Reichardt J.K.V.; Woo S.L.C.;
Proc. Natl. Acad. Sci. U.S.A. 88:2633-2637(1991)
Cited for: VARIANTS GALAC1 MET-44 AND LYS-142; VARIANTS MET-62 AND ASP-314; On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).
Lin H.-C.; Kirby L.T.; Ng W.G.; Reichardt J.K.V.;
Hum. Genet. 93:167-169(1994)
Cited for: VARIANT GALAC1 ASP-314; Molecular characterization of galactosemia (type 1) mutations in Japanese.
Ashino J.; Okano Y.; Suyama I.; Yamazaki T.; Yoshino M.; Furuyama J.; Lin H.-C.; Reichardt J.K.V.; Isshiki G.;
Hum. Mutat. 6:36-43(1995)
Cited for: VARIANTS GALAC1 HIS-231 AND TRP-333; VARIANT ASP-314; Molecular analysis in newborns from Texas affected with galactosemia.
Yang Y.P.; Corley N.; Garcia-Heras J.;
Hum. Mutat. 19:82-83(2002)
Cited for: VARIANTS GALAC1 ALA-23; LEU-135; MET-138; GLN-184; ARG-188; PRO-195; SER-251; ASN-285; LYS-344 AND ASP-345; VARIANT ASP-314; Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.
Velazquez-Aragon J.; Alcantara-Ortigoza M.A.; Vela-Amieva M.; Monroy S.; Martinez-Cruz V.; Todd-Quinones C.; Gonzalez-del Angel A.;
J. Inherit. Metab. Dis. 31:S333-S337(2008)
Cited for: VARIANTS GALAC1 ARG-112 AND ARG-188; VARIANT ASP-314; Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: Identification of 10 novel mutations and their structural and functional implications.
Singh R.; Thapa B.R.; Kaur G.; Prasad R.;
Clin. Chim. Acta 414:191-196(2012)
Cited for: VARIANTS GALAC1 HIS-89; ARG-103; ALA-166; SER-171; PHE-181; LEU-185; ARG-188; ARG-285; GLN-319 AND LEU-333; VARIANT ASP-314; Functional and structural impact of the most prevalent missense mutations in classic galactosemia.
Coelho A.I.; Trabuco M.; Ramos R.; Silva M.J.; Tavares de Almeida I.; Leandro P.; Rivera I.; Vicente J.B.;
Mol. Genet. Genomic Med. 2:484-496(2014)
Cited for: VARIANTS GALAC1 LEU-135; GLN-148; ASP-175; SER-185; ARG-188; CYS-231; HIS-231; ASN-285 AND ASP-314; CHARACTERIZATION OF VARIANTS GALAC1 LEU-135; ASP-175 AND ARG-188; Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: Structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.
Viggiano E.; Marabotti A.; Burlina A.P.; Cazzorla C.; D'Apice M.R.; Giordano L.; Fasan I.; Novelli G.; Facchiano A.; Burlina A.B.;
Gene 559:112-118(2015)
Cited for: VARIANTS GALAC1 PRO-33; ASN-34; VAL-83; THR-142; ARG-188; SER-244; ARG-267; VAL-267; ASP-271; ASN-285; ASP-314 AND TRP-333;