UniProtKB/Swiss-Prot Q86YL7: Variant p.Ala147Gly

Podoplanin
Gene: PDPN
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Variant information Variant position:

147 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 Glycine (G) at position 147 (A147G, p.Ala147Gly). 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 glycine (G) 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 rs2486188 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

STVTLVGIIVGVLLAIGFIG A IIVVVMRKMSGRYSP 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                         STVTLVGIIVGVLLAIGFIGAIIVVVMRKMSGRYSP

                              ATVTLVGIIVGVLLAIGFIGGIIIVVARKMSGRYSP

Mouse                         PVVTLVGIIVGVLLAIGFVGGIFIVVMKKISGRFSP

Rat                           AVVTLVGIIIGVLLAIGFIGGIIIVVMRKISGRFSP

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	23 – 162	Podoplanin
Transmembrane	132 – 152	Helical
Alternative sequence	162 – 162	P -> EVNSLHPCDRQMKAIVSRTQIFELIEISDISWVWWLVPVVSAAGQLQTSLGNIVRPCLKKIISGTMVMFQSSLLGPLECSGSHLESQCFERLRRQEVHLCPGI. In isoform 2.
Mutagenesis	137 – 137	Missing. Prevents self-assembly and association to lipid rafts. Reduces the recruitment to invadopodium. Disrupts assembly into adhesion rings. Fails invadopodia-mediated ECM degradation.
Mutagenesis	159 – 159	R -> N. Highly decreases interaction with the EZR and MSN. Induces an intermediate phenotype between epithelial and mesenchymal. Does not affect localization at cell surface protrusions. Induces reorganization of the actin cytoskeleton oncomitantly with the induced morphological changes. Increases cell migration individually. Increases invasiveness. Enhances RHOA activity. Colocalizes at cell-surface protrusions with RHOA and RAC1.

Literature citations
Evidence against a role of mouse, rat, and two cloned human T1alpha isoforms as a water channel or a regulator of aquaporin-type water channels.
Ma T.; Yang B.; Matthay M.A.; Verkman A.S.;
Am. J. Respir. Cell Mol. Biol. 19:143-149(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); FUNCTION; VARIANT GLY-147; Cloning and characterization of gp36, a human mucin-type glycoprotein preferentially expressed in vascular endothelium.
Zimmer G.; Oeffner F.; von Messling V.; Tschernig T.; Groene H.-J.; Klenk H.-D.; Herrler G.;
Biochem. J. 341:277-284(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; GLYCOSYLATION; VARIANT GLY-147; Submission
Kato Y.; Fujita N.; Tsuruo T.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT GLY-147; 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] (ISOFORM 3); VARIANT GLY-147; Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T.; Suzuki Y.; Nishikawa T.; Otsuki T.; Sugiyama T.; Irie R.; Wakamatsu A.; Hayashi K.; Sato H.; Nagai K.; Kimura K.; Makita H.; Sekine M.; Obayashi M.; Nishi T.; Shibahara T.; Tanaka T.; Ishii S.; Yamamoto J.; Saito K.; Kawai Y.; Isono Y.; Nakamura Y.; Nagahari K.; Murakami K.; Yasuda T.; Iwayanagi T.; Wagatsuma M.; Shiratori A.; Sudo H.; Hosoiri T.; Kaku Y.; Kodaira H.; Kondo H.; Sugawara M.; Takahashi M.; Kanda K.; Yokoi T.; Furuya T.; Kikkawa E.; Omura Y.; Abe K.; Kamihara K.; Katsuta N.; Sato K.; Tanikawa M.; Yamazaki M.; Ninomiya K.; Ishibashi T.; Yamashita H.; Murakawa K.; Fujimori K.; Tanai H.; Kimata M.; Watanabe M.; Hiraoka S.; Chiba Y.; Ishida S.; Ono Y.; Takiguchi S.; Watanabe S.; Yosida M.; Hotuta T.; Kusano J.; Kanehori K.; Takahashi-Fujii A.; Hara H.; Tanase T.-O.; Nomura Y.; Togiya S.; Komai F.; Hara R.; Takeuchi K.; Arita M.; Imose N.; Musashino K.; Yuuki H.; Oshima A.; Sasaki N.; Aotsuka S.; Yoshikawa Y.; Matsunawa H.; Ichihara T.; Shiohata N.; Sano S.; Moriya S.; Momiyama H.; Satoh N.; Takami S.; Terashima Y.; Suzuki O.; Nakagawa S.; Senoh A.; Mizoguchi H.; Goto Y.; Shimizu F.; Wakebe H.; Hishigaki H.; Watanabe T.; Sugiyama A.; Takemoto M.; Kawakami B.; Yamazaki M.; Watanabe K.; Kumagai A.; Itakura S.; Fukuzumi Y.; Fujimori Y.; Komiyama M.; Tashiro H.; Tanigami A.; Fujiwara T.; Ono T.; Yamada K.; Fujii Y.; Ozaki K.; Hirao M.; Ohmori Y.; Kawabata A.; Hikiji T.; Kobatake N.; Inagaki H.; Ikema Y.; Okamoto S.; Okitani R.; Kawakami T.; Noguchi S.; Itoh T.; Shigeta K.; Senba T.; Matsumura K.; Nakajima Y.; Mizuno T.; Morinaga M.; Sasaki M.; Togashi T.; Oyama M.; Hata H.; Watanabe M.; Komatsu T.; Mizushima-Sugano J.; Satoh T.; Shirai Y.; Takahashi Y.; Nakagawa K.; Okumura K.; Nagase T.; Nomura N.; Kikuchi H.; Masuho Y.; Yamashita R.; Nakai K.; Yada T.; Nakamura Y.; Ohara O.; Isogai T.; Sugano S.;
Nat. Genet. 36:40-45(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 10-162 (ISOFORM 3); VARIANT GLY-147; Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
Otsuki T.; Ota T.; Nishikawa T.; Hayashi K.; Suzuki Y.; Yamamoto J.; Wakamatsu A.; Kimura K.; Sakamoto K.; Hatano N.; Kawai Y.; Ishii S.; Saito K.; Kojima S.; Sugiyama T.; Ono T.; Okano K.; Yoshikawa Y.; Aotsuka S.; Sasaki N.; Hattori A.; Okumura K.; Nagai K.; Sugano S.; Isogai T.;
DNA Res. 12:117-126(2005)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 10-162 (ISOFORM 4); VARIANT GLY-147; Molecular cloning and characterization of human podoplanin, a small mucin-type glycoprotein of glomerular podocytes.
Kowalski H.; Kalt R.; Auer H.; Dontscho K.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 16-162 (ISOFORM 3); VARIANT GLY-147;

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