UniProtKB/Swiss-Prot Q96RP8: Variant p.Met418Thr

Potassium voltage-gated channel subfamily A member 7
Gene: KCNA7
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Variant information Variant position:

418 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 Methionine (M) to Threonine (T) at position 418 (M418T, p.Met418Thr). 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 hydrophobic (M) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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 rs1017219 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

SYFYHRETEGEEAGMFSHVD M QPCGPLEGKANGGLVDGEVP 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                         SYFYHRETEGEEAGMFSHVDMQPCGPLEGKANGGLVDGEVP

Mouse                         SYFYHRETEGEEAGMYSHVDTQPCGTLEGKANGGLVDSEVP

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 – 456	Potassium voltage-gated channel subfamily A member 7

Literature citations
Initial isolation and analysis of the human Kv1.7 (KCNA7) gene, a member of the voltage-gated potassium channel gene family.
Kashuba V.I.; Kvasha S.M.; Protopopov A.I.; Gizatullin R.Z.; Rynditch A.V.; Wahlestedt C.; Wasserman W.W.; Zabarovsky E.R.;
Gene 268:115-122(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT THR-418; TISSUE SPECIFICITY; Characterisation of the human voltage-gated potassium channel gene, KCNA7, a candidate gene for inherited cardiac disorders, and its exclusion as cause of progressive familial heart block I (PFHBI).
Bardien-Kruger S.; Wulff H.; Arieff Z.; Brink P.; Chandy K.G.; Corfield V.;
Eur. J. Hum. Genet. 10:36-43(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ARG-189 AND THR-418; TISSUE SPECIFICITY;

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.