UniProtKB/SwissProt variant VAR

Glutamate receptor 3
Gene: GRIA3
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Variant information Variant position:

450
Type of variant:

LP/P [Disclaimer]
Residue change:

From Arginine (R) to Glutamine (Q) at position 450 (R450Q, p.Arg450Gln).
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score:

1
Variant description:

In MRXSW.
Other resources:

Variant rs368568228 [ dbSNP | Ensembl ]

Sequence information Variant position:

450
Protein sequence length:

894
Location on the sequence:

ILESPYVMYKKNHEQLEGNE R YEGYCVDLAYEIAKHVRIKY
Residue conservation:

Human                         ILESPYVMYKKNHEQLEGNERYEGYCVDLAYEIAKHVRIKY

Mouse                         ILESPYVMYKKNHEQLEGNERYEGYCVDLAYEIAKHVRIKY

Rat                           ILESPYVMYKKNHEQLEGNERYEGYCVDLAYEIAKHVRIKY

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	29 – 894	Glutamate receptor 3
Topological domain	29 – 552	Extracellular

Literature citations
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans.
Wu Y.; Arai A.C.; Rumbaugh G.; Srivastava A.K.; Turner G.; Hayashi T.; Suzuki E.; Jiang Y.; Zhang L.; Rodriguez J.; Boyle J.; Tarpey P.; Raymond F.L.; Nevelsteen J.; Froyen G.; Stratton M.; Futreal A.; Gecz J.; Stevenson R.; Schwartz C.E.; Valle D.; Huganir R.L.; Wang T.;
Proc. Natl. Acad. Sci. U.S.A. 104:18163-18168(2007)
Cited for: VARIANTS MRXSW GLN-450; SER-631; THR-706 AND ARG-833; CHARACTERIZATION OF VARIANTS MRXSW SER-631; THR-706 AND ARG-833; FUNCTION; SUBUNIT; SUBCELLULAR LOCATION;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P42263: Variant p.Arg450Gln