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UniProtKB/Swiss-Prot P25092: Variant p.Asp387Gly

Heat-stable enterotoxin receptor
Gene: GUCY2C
Variant information

Variant position:  387
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Aspartate (D) to Glycine (G) at position 387 (D387G, p.Asp387Gly).
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 acidic (D) to glycine (G)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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

Involvement in disease:  Meconium ileus (MECIL) [MIM:614665]: A condition characterized by intestinal obstruction due to inspissated meconium in the distal ileum and cecum, which develops in utero and presents shortly after birth as a failure to pass meconium. Meconium ileus is a known clinical manifestation of cystic fibrosis. {ECO:0000269|PubMed:22521417}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In MECIL; activation of guanylate cyclase activity is 60% lower than in wild-type.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  387
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1073
The length of the canonical sequence.

Location on the sequence:   VTLDDWGDVDSTMVLLYTSV  D TKKYKVLLTYDTHVNKTYPV
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                         VTLDDWGDVDSTMVLLYTSVDTKKYKVLLTYDTHVNKTYPV

Mouse                         VTLDDSGDIDNIMSLLYVSLDTRKYKVLMKYDTHKNKTIPV

Rat                           VTLDDSGDIDNIMCLLYVSLDTRKYKVLMAYDTHKNQTIPV

Pig                           VTLDNCGDIDNTMFLLYTSVDTSKYKVLLTYDTRKNYTNPV

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.

TypePositionsDescription
Chain 24 – 1073 Heat-stable enterotoxin receptor
Topological domain 24 – 430 Extracellular
Glycosylation 402 – 402 N-linked (GlcNAc...) asparagine


Literature citations

Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C.
Romi H.; Cohen I.; Landau D.; Alkrinawi S.; Yerushalmi B.; Hershkovitz R.; Newman-Heiman N.; Cutting G.R.; Ofir R.; Sivan S.; Birk O.S.;
Am. J. Hum. Genet. 90:893-899(2012)
Cited for: VARIANT MECIL GLY-387; CHARACTERIZATION OF VARIANT MECIL GLY-387;

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.