UniProtKB/Swiss-Prot A8K7I4: Variant p.Arg152Lys

Calcium-activated chloride channel regulator 1
Gene: CLCA1
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Variant information Variant position:

152 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 Arginine (R) to Lysine (K) at position 152 (R152K, p.Arg152Lys). 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:

Similar physico-chemical property. Both residues are large size and basic. 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 rs2753386 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

IHLTPDFIAGKKLAEYGPQG R AFVHEWAHLRWGVFDEYNND 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                         IHLTPDFIAGKKLAEYGPQGRAFVHEWAHLRWGVFDEYNND

Rhesus macaque                IHLTPHFLAGKQLKEYGPQGRAFVHEWAHLRWGVFDEYNND

Mouse                         IHLTPDFLAGKKLTQYGPQDRTFVHEWAHFRWGVFNEYNND

Pig                           IYFTPDFVAGKKVLQYGPQGRVFVHEWAHLRWGVFNEYNNE

Bovine                        IHFTPNFLLTNNLPIYGSRGRAFVHEWAHLRWGIFDEYNGD

Horse                         IYFTPDFLAGKRLDEYGPQGRVFVHEWAHLRWGLFNEYNDD

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	22 – 914	Calcium-activated chloride channel regulator 1
Region	46 – 199	Metalloprotease domain
Active site	157 – 157
Binding site	156 – 156
Binding site	160 – 160
Binding site	167 – 167
Mutagenesis	150 – 150	Q -> A. Reduces proteolytic cleavage.
Mutagenesis	156 – 156	H -> A. Abolishes proteolytic cleavage.
Mutagenesis	157 – 157	E -> Q. Abolishes proteolytic cleavage.
Mutagenesis	160 – 160	H -> A. Abolishes proteolytic cleavage.
Mutagenesis	167 – 167	D -> A. Abolishes proteolytic cleavage.
Mutagenesis	168 – 168	E -> A. Abolishes proteolytic cleavage.

Literature citations
Genomic cloning, molecular characterization, and functional analysis of human CLCA1, the first human member of the family of Ca2+-activated Cl- channel proteins.
Gruber A.D.; Elble R.C.; Ji H.-L.; Schreur K.D.; Fuller C.M.; Pauli B.U.;
Genomics 54:200-214(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; FUNCTION; TISSUE SPECIFICITY; GLYCOSYLATION; PROTEOLYTIC PROCESSING; VARIANTS PHE-65; LYS-152; SER-357; THR-524 AND ASN-760;

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.