UniProtKB/SwissProt variant VAR

Variant information

Variant position:

116

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

LP/P [Disclaimer]

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 116 (A116T, p.Ala116Thr).

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

Variant description:

In HYPOC1.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs104893691 [ dbSNP | Ensembl ]

Sequence information

Variant position:

116

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

1078

The length of the canonical sequence.

Location on the sequence:

RIFDTCNTVSKALEATLSFV A QNKIDSLNLDEFCNCSEHIP

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                         RIFDTCNTVSKALEATLSFVAQNKIDSLNLDEFCNCSEHIP

Mouse                         RIFDTCNTVSKALEATLSFVAQNKIDSLNLDEFCNCSEHIP

Rat                           RIFDTCNTVSKALEATLSFVAQNKIDSLNLDEFCNCSEHIP

Pig                           RIFDTCNTVSKALEATLSFVAQNKIDSLNLDEFCNCSEHIP

Bovine                        RIFDTCNTVSKALEATLSFVAQNKIDSLNLDEFCNCSEHIP

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	20 – 1078	Extracellular calcium-sensing receptor
Topological domain	20 – 612	Extracellular
Region	22 – 188	Ligand-binding 1 (LB1)
Binding site	100 – 100
Glycosylation	130 – 130	N-linked (GlcNAc...) asparagine
Disulfide bond	129 – 129	Interchain
Disulfide bond	131 – 131	Interchain
Mutagenesis	102 – 102	N -> I. Abolishes G-protein coupled receptor activity.
Helix	116 – 123

Literature citations

Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism.
Baron J.; Winer K.K.; Yanovski J.A.; Cunningham A.W.; Laue L.; Zimmerman D.; Cutler G.B. Jr.;
Hum. Mol. Genet. 5:601-606(1996)
Cited for: VARIANTS HYPOC1 THR-116; HIS-681 AND SER-806; VARIANT SER-851;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P41180: Variant p.Ala116Thr