UniProtKB/Swiss-Prot P15382: Variant p.Ser28Leu

Potassium voltage-gated channel subfamily E member 1
Gene: KCNE1
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Variant information Variant position:

28 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Serine (S) to Leucine (L) at position 28 (S28L, p.Ser28Leu). 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 small size and polar (S) to medium size and hydrophobic (L) 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:

In LQT5; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs199473350 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

AVTPFLTKLWQETVQQGGNM S GLARRSPRSSDGKLEALYVL 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                         AVTPFLTKLWQETVQQGGNMSG-LARRSPRSSDGKLEALYVL

Mouse                         TVLPFLARLWQETAEQGGNVSG-LARKSQLRDDSKLEALYI

Rat                           TVLPFLASLWQETDEPGGNMSADLARRSQLRDDSKLEALYI

Pig                           TVLPFLASLWQETDEPGGNMSADLARRSQLRDDSKLEALYI

Rabbit                        AVMPFLTTLGEETAHLQGSSATSLARRGPLGDDGQMEALYI

Cat                           ATTPFLNALWQGTAHQGGNTSG-LARRSPGGDDSQLEALYI

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 – 129	Potassium voltage-gated channel subfamily E member 1
Site	19 – 19	Interacts with the scolopendra toxin SSD609
Glycosylation	26 – 26	N-linked (GlcNAc...) asparagine
Mutagenesis	15 – 15	K -> D. No change in inhibition of the complex KCNQ1-KCNE1 by the scolopendra toxin SSD609.
Mutagenesis	19 – 19	E -> K. Loss inhibition of the complex KCNQ1-KCNE1 by the scolopendra toxin SSD609.
Mutagenesis	28 – 28	S -> T. No measurable effect on assembly with KCNQ1 or cell surface expression of the KCNE1/KCNQ1 channel complex, and loss of glycosylation at N-5; when associated with Q-5. 50% reduction of cell surface expression of the KCNE1/KCNQ1 channel complex, and loss of glycosylation at N-5 and T-7; when associated with A-7.
Mutagenesis	32 – 32	R -> D. Increase in inhibition of the complex KCNQ1-KCNE1 by the scolopendra toxin SSD609.

Literature citations
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
Kapplinger J.D.; Tester D.J.; Salisbury B.A.; Carr J.L.; Harris-Kerr C.; Pollevick G.D.; Wilde A.A.; Ackerman M.J.;
Heart Rhythm 6:1297-1303(2009)
Cited for: VARIANTS LQT5 VAL-8; MET-10; LEU-28; HIS-32; SER-55; PRO-58; PRO-59; CYS-67; HIS-67; MET-70; ASN-76; LYS-83 AND MET-125;

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.