UniProtKB/Swiss-Prot P25092: Variant p.Phe281Leu

Guanylyl cyclase C
Gene: GUCY2C
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Variant information Variant position:

281 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 Phenylalanine (F) to Leucine (L) at position 281 (F281L, p.Phe281Leu). 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
Other resources:

Links to websites of interest for the variant.

Variant rs1420635 [ dbSNP | Ensembl ]

Sequence information Variant position:

281 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:

DRAVAEDIVIILVDLFNDQY F EDNVTAPDYMKNVLVLTLSP 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                         DRAVAEDIVIILVDLFNDQYFEDNVTAPDYMKNVLVLTLSP

Mouse                         DLQVAEDTVVILVDLFSNHYFEENTTAPEYMDNVLVLTLPS

Rat                           DLKVADDTVVILVDLFSNHYFEDDTRAPEYMDNVLVLTLPP

Pig                           GRAVAEDTVIILVDLFNDHYFMDNVTAPDYMKNVLVLTLPP

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	24 – 1073	Guanylyl cyclase C
Topological domain	24 – 430	Extracellular
Glycosylation	284 – 284	N-linked (GlcNAc...) asparagine

Literature citations
Isolation and expression of a guanylate cyclase-coupled heat stable enterotoxin receptor cDNA from a human colonic cell line.
Singh S.; Singh G.; Heim J.-M.; Gerzer R.;
Biochem. Biophys. Res. Commun. 179:1455-1463(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; CATALYTIC ACTIVITY; VARIANT LEU-281; Primary structure and functional expression of the human receptor for Escherichia coli heat-stable enterotoxin.
de Sauvage F.J.; Camerato T.R.; Goeddel D.V.;
J. Biol. Chem. 266:17912-17918(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; VARIANT LEU-281; Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT LEU-281; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT LEU-281; Comparison of receptors for Escherichia coli heat-stable enterotoxin: novel receptor present in IEC-6 cells.
Mann E.A.; Cohen M.B.; Giannella R.A.;
Am. J. Physiol. 264:G172-G178(1993)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 24-1073; FUNCTION; VARIANT LEU-281;

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.