UniProtKB/Swiss-Prot P58335: Variant p.Ala357Pro

Anthrax toxin receptor 2
Gene: ANTXR2
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Variant information Variant position:

357 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 Alanine (A) to Proline (P) at position 357 (A357P, p.Ala357Pro). 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 hydrophobic (P) 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
Other resources:

Links to websites of interest for the variant.

Variant rs12647691 [ dbSNP | Ensembl ]

Sequence information Variant position:

357 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

489 The length of the canonical sequence.
Location on the sequence:

MWWFWPLCCKVVIKDPPPPP A PAPKEEEEEPLPTKKWPTVD 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                         MWWFWPLCCKVVIKDPPPPPAPAPKEEEEEPLPTKKWPTVD

Mouse                         MWWFWPLCCKVVIKDPPPPPSAPMEEEEEDPLPNKKWPTVD

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	34 – 489	Anthrax toxin receptor 2
Topological domain	342 – 489	Cytoplasmic
Alternative sequence	323 – 489	Missing. In isoform 3.

Literature citations
Differential gene expression during capillary morphogenesis in 3D collagen matrices: regulated expression of genes involved in basement membrane matrix assembly, cell cycle progression, cellular differentiation and G-protein signaling.
Bell S.E.; Mavila A.; Salazar R.; Bayless K.J.; Kanagala S.; Maxwell S.A.; Davis G.E.;
J. Cell Sci. 114:2755-2773(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); FUNCTION; SUBCELLULAR LOCATION; VARIANT PRO-357; Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor.
Scobie H.M.; Rainey G.J.A.; Bradley K.A.; Young J.A.T.;
Proc. Natl. Acad. Sci. U.S.A. 100:5170-5174(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION (MICROBIAL INFECTION); SUBCELLULAR LOCATION; INTERACTION WITH ANTHRAX TOXIN PA (MICROBIAL INFECTION); VARIANT PRO-357; Submission
Totoki Y.; Toyoda A.; Takeda T.; Sakaki Y.; Tanaka A.; Yokoyama S.; Ohara O.; Nagase T.; Kikuno R.F.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4); VARIANT PRO-357; 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] OF 248-489 (ISOFORM 4); VARIANT PRO-357; Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.
Hanks S.; Adams S.; Douglas J.; Arbour L.; Atherton D.J.; Balci S.; Bode H.; Campbell M.E.; Feingold M.; Keser G.; Kleijer W.; Mancini G.; McGrath J.A.; Muntoni F.; Nanda A.; Teare M.D.; Warman M.; Pope F.M.; Superti-Furga A.; Futreal P.A.; Rahman N.;
Am. J. Hum. Genet. 73:791-800(2003)
Cited for: VARIANTS HFS PRO-45; THR-189; ARG-218; GLN-293 INS AND CYS-381; VARIANT PRO-357; TISSUE SPECIFICITY;

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.