Variant position: 553 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1484 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 GISVMVSRSNGTVSPSAFLE PFSADVWVMMFVMLLIVSAVA
Mouse GISVMVSRSNGTVSPSAFLE PFSADVWVMMFVMLLIVSAVA
Rat GISVMVSRSNGTVSPSAFLE PFSADVWVMMFVMLLIVSAVA
Xenopus laevis GISVMVSRSNGTVSPSAFLE PFSADVWVMMFVMLLIVSAVA
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
27 – 1484 Glutamate receptor ionotropic, NMDA 2B
27 – 557 Extracellular
542 – 542 N-linked (GlcNAc...) asparagine
553 – 553 P -> R. Changed glutamate-gated calcium ion channel activity characterized by increased glutamate and glycine potency and slowed response rise time and deactivation time course.
Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J.; Willemsen M.H.; van Bon B.W.; Kleefstra T.; Yntema H.G.; Kroes T.; Vulto-van Silfhout A.T.; Koolen D.A.; de Vries P.; Gilissen C.; del Rosario M.; Hoischen A.; Scheffer H.; de Vries B.B.; Brunner H.G.; Veltman J.A.; Vissers L.E.;
N. Engl. J. Med. 367:1921-1929(2012)
Cited for: VARIANT MRD6 LEU-553;
Molecular mechanism of disease-associated mutations in the pre-M1 helix of NMDA receptors and potential rescue pharmacology.
Ogden K.K.; Chen W.; Swanger S.A.; McDaniel M.J.; Fan L.Z.; Hu C.; Tankovic A.; Kusumoto H.; Kosobucki G.J.; Schulien A.J.; Su Z.; Pecha J.; Bhattacharya S.; Petrovski S.; Cohen A.E.; Aizenman E.; Traynelis S.F.; Yuan H.;
PLoS Genet. 13:E1006536-E1006536(2017)
Cited for: CHARACTERIZATION OF VARIANT MRD6 LEU-553; MUTAGENESIS OF PRO-553;
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.