UniProtKB/SwissProt variant VAR

Glutamate receptor 4
Gene: GRIA4
Feedback?

Variant information Variant position:

641
Type of variant:

LP/P [Disclaimer]
Residue change:

From Asparagine (N) to Aspartate (D) at position 641 (N641D, p.Asn641Asp).
Physico-chemical properties:

Change from medium size and polar (N) to medium size and acidic (D)
BLOSUM score:

1
Variant description:

In NEDSGA.
Other resources:

Variant rs1555050165 [ dbSNP | Ensembl ]

Sequence information Variant position:

641
Protein sequence length:

902
Location on the sequence:

RIVGGVWWFFTLIIISSYTA N LAAFLTVERMVSPIESAEDL
Residue conservation:

Human                         RIVGGVWWFFTLIIISSYTANLAAFLTVERMVSPIESAEDL

Mouse                         RIVGGVWWFFTLIIISSYTANLAAFLTVERMVSPIESAEDL

Rat                           RIVGGVWWFFTLIIISSYTANLAAFLTVERMVSPIESAEDL

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	21 – 902	Glutamate receptor 4
Topological domain	639 – 813	Extracellular
Alternative sequence	434 – 902	Missing. In isoform 2.

Literature citations
De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.
Martin S.; Chamberlin A.; Shinde D.N.; Hempel M.; Strom T.M.; Schreiber A.; Johannsen J.; Ousager L.B.; Larsen M.J.; Hansen L.K.; Fatemi A.; Cohen J.S.; Lemke J.; Soerensen K.P.; Helbig K.L.; Lessel D.; Abou Jamra R.;
Am. J. Hum. Genet. 101:1013-1020(2017)
Cited for: INVOLVEMENT IN NEDSGA; VARIANTS NEDSGA SER-639; ASP-641; GLY-643; VAL-644 AND PRO-697;

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 P48058: Variant p.Asn641Asp