UniProtKB/Swiss-Prot Q9Y6J6: Variant p.Gln9Glu

Potassium voltage-gated channel subfamily E member 2
Gene: KCNE2
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Variant information Variant position:

9 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 9 (Q9E, p.Gln9Glu). 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
Variant description:

Risk factor for drug-induced arrhythmia; impedes activation and increases sensitivity to macrolide antibiotics; may lower current in KCNQ1/KCNE2 channel. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs16991652 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MSTLSNFT Q TLEDVFRRIFITYMDNWRQN 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                         MSTLSNFTQTLEDVFRRIFITYMDNWRQN

Mouse                         MATLANLTQTLEDAFKKIFITYMDSWRRN

Rat                           MTTLANLTQTLEDAFKKVFITYMDSWRRN

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 – 123	Potassium voltage-gated channel subfamily E member 2
Glycosylation	6 – 6	N-linked (GlcNAc...) asparagine
Glycosylation	29 – 29	N-linked (GlcNAc...) asparagine
Helix	3 – 38

Literature citations
MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia.
Abbott G.W.; Sesti F.; Splawski I.; Buck M.E.; Lehmann M.H.; Timothy K.W.; Keating M.T.; Goldstein S.A.N.;
Cell 97:175-187(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS LQT6 THR-54 AND THR-57; VARIANTS ALA-8 AND GLU-9; FUNCTION; CHARACTERIZATION OF VARIANTS LQT6 THR-54 AND THR-57; CHARACTERIZATION OF VARIANT GLU-9; INTERACTION WITH KCNH2;

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.