UniProtKB/Swiss-Prot Q9NPA1: Variant p.Ala53Thr

Calcium-activated potassium channel subunit beta-3
Gene: KCNMB3
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Variant information Variant position:

53 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 Alanine (A) to Threonine (T) at position 53 (A53T, p.Ala53Thr). 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 hydrophobic (A) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 rs7645550 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

RETDYSDGDPLDVHKRLPSS A GEDRAVMLGFAMMGFSVLMF 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                         RETDYSDGDPLDVHKRLPSSAGEDRAVMLGFAMMGFSVLMF

Rat                           ----ISNGDPLKVHPKLPSSAGEDRATLLGIAMMASSVLMF

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 – 279	Calcium-activated potassium channel subunit beta-3
Topological domain	1 – 60	Cytoplasmic

Literature citations
Identification of a putative regulatory subunit of a calcium-activated potassium channel in the dup(3q) syndrome region and a related sequence on 22q11.2.
Riazi M.A.; Brinkman-Mills P.; Johnson A.; Naylor S.L.; Minoshima S.; Shimizu N.; Baldini A.; McDermid H.E.;
Genomics 62:90-94(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3); VARIANT THR-53; TISSUE SPECIFICITY; Cloning and functional characterization of novel large conductance calcium-activated potassium channel beta subunits, hKCNMB3 and hKCNMB4.
Brenner R.; Jegla T.J.; Wickenden A.; Liu Y.; Aldrich R.W.;
J. Biol. Chem. 275:6453-6461(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4); VARIANT THR-53; TISSUE SPECIFICITY; INTERACTION WITH KCNMA1; Cloning and functional expression of two families of Beta-subunits of the large conductance calcium-activated potassium channel.
Uebele V.N.; Lagrutta A.A.; Wade T.; Figueroa D.J.; Liu Y.; McKenna E.; Austin C.P.; Bennett P.B.; Swanson R.;
J. Biol. Chem. 275:23211-23218(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1; 2; 3 AND 4); FUNCTION; ALTERNATIVE SPLICING; TISSUE SPECIFICITY; VARIANTS THR-53 AND SER-165; A neuronal beta subunit (KCNMB4) makes the large conductance, voltage- and Ca2+-activated K+ channel resistant to charybdotoxin and iberiotoxin.
Meera P.; Wallner M.; Toro L.;
Proc. Natl. Acad. Sci. U.S.A. 97:5562-5567(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT THR-53; GLYCOSYLATION; hKCNMB3 and hKCNMB4, cloning and characterization of two members of the large-conductance calcium-activated potassium channel beta subunit family.
Behrens R.; Nolting A.; Reimann F.; Schwarz M.; Waldschuetz R.; Pongs O.;
FEBS Lett. 474:99-106(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4); VARIANT THR-53;

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.