UniProtKB/Swiss-Prot P48544: Variant p.Gln282Glu

G protein-activated inward rectifier potassium channel 4
Gene: KCNJ5
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Variant information Variant position:

282 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 Glutamine (Q) to Glutamate (E) at position 282 (Q282E, p.Gln282Glu). 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 (Q) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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
Other resources:

Links to websites of interest for the variant.

Variant rs7102584 [ dbSNP | Ensembl ]

Sequence information Variant position:

282 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

419 The length of the canonical sequence.
Location on the sequence:

DTGDDRLFLVSPLIISHEIN Q KSPFWEMSQAQLHQEEFEVV 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                         DTGDDRLFLVSPLIISHEINQKSPFWEMSQAQLHQEEFEVV

Mouse                         DTGDDRLFLVSPLIISHEINEKSPFWEMSRAQLEQEEFEVV

Rat                           DTGDDRLFLVSPLIISHEINEKSPFWEMSRAQLEQEEFEVV

Pig                           DTGDDRLFLVSPLIISHEINEKSPFWEMSRAQLNQEEFEVV

Bovine                        DTGDDRLFLVSPLIICHEINEKSPFWEMSRAQLTQEEFEVV

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	1 – 419	G protein-activated inward rectifier potassium channel 4
Topological domain	186 – 419	Cytoplasmic

Literature citations
Submission
Chan K.W.; Langan M.N.; Sui J.; Kozak A.; Pabon A.; Ladias J.A.A.; Logothetis D.E.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT GLU-282; Cloning and functional expression of a rat heart KATP channel.
Ashford M.L.J.; Bond C.T.; Blair T.A.; Adelman J.P.;
Nature 370:456-459(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; RETRACTED PAPER; VARIANT GLU-282; A G-protein-activated inwardly rectifying K+ channel (GIRK4) from human hippocampus associates with other GIRK channels.
Spauschus A.; Lentes K.U.; Wischmeyer E.; Dissmann E.; Karschin C.; Karschin A.;
J. Neurosci. 16:930-938(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT GLU-282; Co-expression of human Kir3 subunits can yield channels with different functional properties.
Schoots O.; Wilson J.M.; Ethier N.; Bigras E.; Hebert T.E.; Van Tol H.H.M.;
Cell. Signal. 11:871-883(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT GLU-282; Functional characterization and localization of a cardiac-type inwardly rectifying K+ channel.
Iizuka M.; Kubo Y.; Tsunenari I.; Pan C.X.; Akiba I.; Kono T.;
Recept. Channels 3:299-315(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT GLU-282; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT GLU-282;

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.