UniProtKB/SwissProt variant VAR

Variant information

Variant position:

788

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 Phenylalanine (F) to Leucine (L) at position 788 (F788L, p.Phe788Leu).

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 large size and aromatic (F) to medium size and hydrophobic (L)

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; induces a significant shift to the left relative to the wild-type protein in the MAPK response to increasing extracellular calcium concentrations.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs886041537 [ dbSNP | Ensembl ]
Variant rs104893711 [ dbSNP | Ensembl ]

Sequence information

Variant position:

788

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:

GSLMALGFLIGYTCLLAAIC F FFAFKSRKLPENFNEAKFIT

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                         GSLMALGFLIGYTCLLAAICFFFAFKSRKLPENFNEAKFIT

Mouse                         GSLMALGSLIGYTCLLAAICFFFAFKSRKLPENFNEAKFIT

Rat                           GSLMALGSLIGYTCLLAAICFFFAFKSRKLPENFNEAKFIT

Pig                           GSLMALGFLIGYTCLLAAICFFFAFKSRKLPENFNEAKFIT

Bovine                        GSLMALGFLIGYTCLLAAICFFFAFKSRKLPENFNEAKFIT

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
Transmembrane	770 – 792	Helical; Name=5
Helix	771 – 793

Literature citations

Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene.
Hendy G.N.; Minutti C.; Canaff L.; Pidasheva S.; Yang B.; Nouhi Z.; Zimmerman D.; Wei C.; Cole D.E.C.;
J. Clin. Endocrinol. Metab. 88:3674-3681(2003)
Cited for: VARIANT HYPOC1 LEU-788; CHARACTERIZATION OF VARIANT HYPOC1 LEU-788;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P41180: Variant p.Phe788Leu