Variant position: 531 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1464 The length of the canonical sequence.
Location on the sequence:
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 SLTINEERSEVVDFSVPFVE TGISVMVSRSNGTVSPSAFLE
Chimpanzee SLTINEERSEVVDFSVPFVE TGISVMVSRSNGTVSPSAFLE
Mouse SLTINEERSEVVDFSVPFVE TGISVMVSRSNGTVSPSAFLE
Rat SLTINEERSEVVDFSVPFVE TGISVMVSRSNGTVSPSAFLE
Xenopus laevis SLTINEERSVAVDFSVPFVE TGISVMVSRSNGTVSPSAFLE
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
23 – 1464 Glutamate receptor ionotropic, NMDA 2A
23 – 555 Extracellular
518 – 518 Glutamate
541 – 541 N-linked (GlcNAc...) asparagine
528 – 538
GRIN2A mutations cause epilepsy-aphasia spectrum disorders.
Carvill G.L.; Regan B.M.; Yendle S.C.; O'Roak B.J.; Lozovaya N.; Bruneau N.; Burnashev N.; Khan A.; Cook J.; Geraghty E.; Sadleir L.G.; Turner S.J.; Tsai M.H.; Webster R.; Ouvrier R.; Damiano J.A.; Berkovic S.F.; Shendure J.; Hildebrand M.S.; Szepetowski P.; Scheffer I.E.; Mefford H.C.;
Nat. Genet. 45:1073-1076(2013)
Cited for: VARIANT FESD MET-531; CHARACTERIZATION OF VARIANT FESD MET-531;
Mechanistic insight into NMDA receptor dysregulation by rare variants in the GluN2A and GluN2B agonist binding domains.
Swanger S.A.; Chen W.; Wells G.; Burger P.B.; Tankovic A.; Bhattacharya S.; Strong K.L.; Hu C.; Kusumoto H.; Zhang J.; Adams D.R.; Millichap J.J.; Petrovski S.; Traynelis S.F.; Yuan H.;
Am. J. Hum. Genet. 99:1261-1280(2016)
Cited for: VARIANTS FESD ALA-506 AND GLY-685; CHARACTERIZATION OF VARIANT FESD ARG-436; ARG-483; TRP-504; ALA-506; HIS-518; MET-531; ASN-669; GLY-685; THR-694; SER-699; VAL-705; LYS-714; THR-716; THR-727; ASN-731; LEU-734; GLU-772; CHARACTERIZATION OF VARIANT MET-452;
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.