UniProtKB/Swiss-Prot P11413: Variant p.Asn126Asp

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 126 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 Asparagine (N) to Aspartate (D) at position 126 (N126D, p.Asn126Asp). 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
Polymorphism: The sequence shown is that of variant B, the most common variant. Additional information on the polymorphism described.
Variant description: Found in Santa Maria and Mount Sinai; associated with C-387 in Mount Sinai; class IV and class I. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs1050829 [ dbSNP | Ensembl ]

Sequence information

Variant position: 126 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 515 The length of the canonical sequence.
Location on the sequence: SYVAGQYDDAASYQRLNSHM N ALHLGSQANRLFYLALPPTV 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	2 – 515	Glucose-6-phosphate 1-dehydrogenase
Helix	115 – 126

Literature citations

Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-).
Hirono A.; Beutler E.;
Proc. Natl. Acad. Sci. U.S.A. 85:3951-3954(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT); PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG); VARIANT NSHA MET-68; VARIANT ASP-126; Sequence of human glucose-6-phosphate dehydrogenase cloned in plasmids and a yeast artificial chromosome.
Chen E.Y.; Cheng A.; Lee A.; Kuang W.; Hillier L.; Green P.; Schlessinger D.; Ciccodicola A.; D'Urso M.;
Genomics 10:792-800(1991)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT NSHA MET-68; VARIANT ASP-126; Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci.
Chen E.Y.; Zollo M.; Mazzarella R.A.; Ciccodicola A.; Chen C.-N.; Zuo L.; Heiner C.; Burough F.W.; Ripetto M.; Schlessinger D.; D'Urso M.;
Hum. Mol. Genet. 5:659-668(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT NSHA MET-68; VARIANT ASP-126; Nucleotide variability at G6pd and the signature of malarial selection in humans.
Saunders M.A.; Hammer M.F.; Nachman M.W.;
Genetics 162:1849-1861(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 41-515 (ISOFORM SHORT); VARIANT NSHA MET-68; VARIANT ASP-126; A single nucleotide base transition is the basis of the common human glucose-6-phosphate dehydrogenase variant A (+).
Takizawa T.; Yoneyama Y.; Miwa S.; Yoshida A.;
Genomics 1:228-231(1987)
Cited for: VARIANT ASP-126; G6PD Mount Sinai: a new severe hemolytic variant characterized by dual mutations at nucleotides 376G and 1159T (N126D).
Vlachos A.; Westwood B.; Lipton J.M.; Beutler E.;
Hum. Mutat. Suppl. 1:S154-S155(1998)
Cited for: VARIANT NSHA CYS-387; VARIANT ASP-126; Analysis of protein-coding genetic variation in 60,706 humans.
Lek M.; Karczewski K.J.; Minikel E.V.; Samocha K.E.; Banks E.; Fennell T.; O'Donnell-Luria A.H.; Ware J.S.; Hill A.J.; Cummings B.B.; Tukiainen T.; Birnbaum D.P.; Kosmicki J.A.; Duncan L.E.; Estrada K.; Zhao F.; Zou J.; Pierce-Hoffman E.; Berghout J.; Cooper D.N.; Deflaux N.; DePristo M.; Do R.; Flannick J.; Fromer M.; Gauthier L.; Goldstein J.; Gupta N.; Howrigan D.; Kiezun A.; Kurki M.I.; Moonshine A.L.; Natarajan P.; Orozco L.; Peloso G.M.; Poplin R.; Rivas M.A.; Ruano-Rubio V.; Rose S.A.; Ruderfer D.M.; Shakir K.; Stenson P.D.; Stevens C.; Thomas B.P.; Tiao G.; Tusie-Luna M.T.; Weisburd B.; Won H.H.; Yu D.; Altshuler D.M.; Ardissino D.; Boehnke M.; Danesh J.; Donnelly S.; Elosua R.; Florez J.C.; Gabriel S.B.; Getz G.; Glatt S.J.; Hultman C.M.; Kathiresan S.; Laakso M.; McCarroll S.; McCarthy M.I.; McGovern D.; McPherson R.; Neale B.M.; Palotie A.; Purcell S.M.; Saleheen D.; Scharf J.M.; Sklar P.; Sullivan P.F.; Tuomilehto J.; Tsuang M.T.; Watkins H.C.; Wilson J.G.; Daly M.J.; MacArthur D.G.;
Nature 536:285-291(2016)
Cited for: VARIANT ASP-126;