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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P54278: Variant p.Pro470Ser

Mismatch repair endonuclease PMS2
Gene: PMS2
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Variant information Variant position: help 470 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Proline (P) to Serine (S) at position 470 (P470S, p.Pro470Ser). 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: help Change from medium size and hydrophobic (P) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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

Variant description: help No effect on protein abundance; no effect on subcellular localization; normal DNA mismatch repair activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 470 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 862 The length of the canonical sequence.
Location on the sequence: help KRGMLSSSTSGAISDKGVLR P QKEAVSSSHGPSDPTDRAEV 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         KRGMLSSSTSGAISDKGVLRPQKEAVSSSHGPSDPTDRAEV

Mouse                         KRGVLSSYPSDVISYRGLRGSQDKLVSPTDSPGDCMDREKI

Chicken                       KQLSLDTILSTVRTQKAVLSEDSESCHEMKSKM-PVPRKYL

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 862 Mismatch repair endonuclease PMS2
Region 391 – 552 Disordered
Alternative sequence 184 – 862 Missing. In isoform 4.
Alternative sequence 269 – 669 Missing. In isoform 2.



Literature citations
Submission
Bronner C.E.; Baker S.M.; Morrison P.T.; Warren G.; Smith L.G.; Lescoe M.K.; Kane M.F.; Earibino C.; Lipford J.; Lindblom A.; Tannergaard P.; Bollag R.J.; Godwin A.R.; Ward D.C.; Nordenskjoeld M.; Fishel R.; Kolodner R.D.; Liskay R.M.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS SER-470 AND GLU-541; 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] (ISOFORM 1); VARIANTS SER-470 AND GLU-541; Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).
Hendriks Y.M.; Jagmohan-Changur S.; van der Klift H.M.; Morreau H.; van Puijenbroek M.; Tops C.; van Os T.; Wagner A.; Ausems M.G.; Gomez E.; Breuning M.H.; Broecker-Vriends A.H.; Vasen H.F.; Wijnen J.T.;
Gastroenterology 130:312-322(2006)
Cited for: VARIANTS LYNCH4 ILE-585 AND ILE-622; VARIANTS VAL-18; GLN-20; SER-470; LYS-485; GLU-541; SER-597 AND ALA-857; Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
Borras E.; Pineda M.; Cadinanos J.; Del Valle J.; Brieger A.; Hinrichsen I.; Cabanillas R.; Navarro M.; Brunet J.; Sanjuan X.; Musulen E.; van der Klift H.; Lazaro C.; Plotz G.; Blanco I.; Capella G.;
J. Med. Genet. 50:552-563(2013)
Cited for: VARIANT LYNCH4 ILE-46; VARIANTS GLN-20; SER-470; SER-597 AND SER-775; CHARACTERIZATION OF VARIANT LYNCH4 ILE-46; CHARACTERIZATION OF VARIANTS GLN-20 AND SER-470; MUTAGENESIS OF ASP-70; FUNCTION; SUBCELLULAR LOCATION; Comprehensive mutation analysis of PMS2 in a large cohort of probands suspected of lynch syndrome or constitutional mismatch repair deficiency syndrome.
van der Klift H.M.; Mensenkamp A.R.; Drost M.; Bik E.C.; Vos Y.J.; Gille H.J.; Redeker B.E.; Tiersma Y.; Zonneveld J.B.; Garcia E.G.; Letteboer T.G.; Olderode-Berends M.J.; van Hest L.P.; van Os T.A.; Verhoef S.; Wagner A.; van Asperen C.J.; Ten Broeke S.W.; Hes F.J.; de Wind N.; Nielsen M.; Devilee P.; Ligtenberg M.J.; Wijnen J.T.; Tops C.M.;
Hum. Mutat. 37:1162-1179(2016)
Cited for: VARIANTS MMRCS4 ILE-46; THR-66; TRP-107; GLY-115; PRO-205; VAL-263; LYS-307; SER-437; GLN-479; VAL-488; GLN-504; ILE-585 AND LEU-815; CHARACTERIZATION OF VARIANTS MMRCS4 ILE-46; THR-66; TRP-107; GLY-115; LYS-307; SER-437; VAL-488; GLN-504 AND LEU-815; VARIANTS VAL-18; GLU-60; SER-470; LEU-563; ILE-571 AND SER-775; CHARACTERIZATION OF VARIANTS SER-470 AND SER-775;
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.