UniProtKB/SwissProt variant VAR

Variant information

Variant position:

77

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 Cysteine (C) to Phenylalanine (F) at position 77 (C77F, p.Cys77Phe).

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 polar (C) to large size and aromatic (F)

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

Variant description:

In HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs1330837892 [ dbSNP | Ensembl ]

Sequence information

Variant position:

77

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

Protein sequence length:

503

The length of the canonical sequence.

Location on the sequence:

REEGRHPQEHRGCGNLHREL C RGRPTEFVNHYCCDSHLCNH

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                         REEGRHPQEHRGCGNLHRELCRGRPTEFVNHYCCDSHLCNH

Mouse                         REQGRHPQVYRGCGSLNQELCLGRPTEFLNHHCCYRSFCNH

Rat                           REQGRHPQVYRGCGSLNQELCLGRPTEFVNHHCCYRSFCNH

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 – 503	Serine/threonine-protein kinase receptor R3
Topological domain	22 – 118	Extracellular
Disulfide bond	77 – 89
Helix	74 – 78

Literature citations

Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by hereditary hemorrhagic telangiectasia.
Alaa El Din F.; Patri S.; Thoreau V.; Rodriguez-Ballesteros M.; Hamade E.; Bailly S.; Gilbert-Dussardier B.; Abou Merhi R.; Kitzis A.;
PLoS ONE 10:E0132111-E0132111(2015)
Cited for: VARIANTS HHT2 GLY-41; TYR-41; GLY-46; PRO-47; TYR-66; PHE-77; ASP-211; SER-211; VAL-245; PRO-306; VAL-313; TYR-314; SER-378; ASP-379; LYS-379; GLY-404; TRP-411; MET-441 AND TYR-443; VARIANTS ASP-111 AND PHE-417; CHARACTERIZATION OF VARIANTS HHT2 GLY-41; TYR-41; GLY-46; PRO-47; TYR-66; PHE-77; ASP-211; SER-211; VAL-245; PRO-306; VAL-313; TYR-314; SER-378; ASP-379; LYS-379; GLY-404; TRP-411; MET-441 AND TYR-443; CHARACTERIZATION OF VARIANTS ASP-111 AND PHE-417; FUNCTION; SUBCELLULAR LOCATION;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P37023: Variant p.Cys77Phe