UniProtKB/Swiss-Prot Q15256: Variant p.Lys314Arg

Receptor-type tyrosine-protein phosphatase R
Gene: PTPRR
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Variant information Variant position:

314 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 Lysine (K) to Arginine (R) at position 314 (K314R, p.Lys314Arg). 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:

Similar physico-chemical property. Both residues are large size and basic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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 rs3803036 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

QAPKVLNVVVDPQGRGAPEI K ATTATSVCPSPFKMKPIGLQ 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                         QAPKVLNVVVDPQGRGAPEIKATTATSVCPSPFKMKPIGLQ

Mouse                         QAPKVLNVVVDPQGQCTPEIRNSTSTSVCPSPFRMKPIGLQ

Rat                           QAPKVLNVVVDPQGQCTPEIRNTASTSVCPSPFRMKPIGLQ

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	22 – 657	Receptor-type tyrosine-protein phosphatase R
Topological domain	249 – 657	Cytoplasmic

Literature citations
Cloning and expression of PCPTP1 encoding protein tyrosine phosphatase.
Shiozuka K.; Watanabe Y.; Ikeda T.; Hashimoto S.; Kawashima H.;
Gene 162:279-284(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM ALPHA); VARIANT ARG-314; Protein tyrosine phosphatase (PC12, Br7,Sl) family: expression characterization in the adult human and mouse.
Augustine K.A.; Silbiger S.M.; Bucay N.; Ulias L.; Boynton A.; Trebasky L.D.; Medlock E.S.;
Anat. Rec. 258:221-234(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS ALPHA; GAMMA AND DELTA); TISSUE SPECIFICITY; VARIANT ARG-314; Type 2 diabetes locus on 12q15: further mapping and mutation screening of two candidate genes.
Bektas A.; Hughes J.N.; Warram J.H.; Krolewski A.S.; Doria A.;
Diabetes 50:204-208(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ARG-314; Cloning and characterization of novel PTP (NC-PTPCOM) from neuronal cells.
Knyazev P.; Cheburkin Y.; Knyazev Y.; Ullrich A.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM ALPHA); VARIANT ARG-314; 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] (ISOFORMS ALPHA AND 4); VARIANT ARG-314; Molecular cloning and characterization of human epithelial cells specific protein tyrosine phosphatase (EC-PTP).
Knyazev P.G.; Ullrich A.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 289-657 (ISOFORM ALPHA); VARIANT ARG-314;

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