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:
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 MWWFWPLCCKVVIKDPPPPP APAPKEEEEEPLPTKKWPTVD
Mouse MWWFWPLCCKVVIKDPPPPP SAPMEEEEEDPLPNKKWPTVD
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
34 – 489 Anthrax toxin receptor 2
342 – 489 Cytoplasmic
352 – 360 Poly-Pro
323 – 489 Missing. In isoform 3.
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; 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); INTERACTION WITH ANTHRAX TOXIN; VARIANT PRO-357;
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;
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