UniProtKB/Swiss-Prot O14757: Variant p.Ile471Val

Serine/threonine-protein kinase Chk1
Gene: CHEK1
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Variant information Variant position:

471 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 Isoleucine (I) to Valine (V) at position 471 (I471V, p.Ile471Val). 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 medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

3 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 rs506504 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

FKRHFLKIKGKLIDIVSSQK I WLPAT 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                         FKRHFLKIKGKLID-IVSSQKIWLPAT----------------------------

Mouse                         FKRHFLKIKGKLSD-VVSSQKVWFPV

Rat                           FKRHFLKIKGKLSD-IVSSQKVWFPV

Chicken                       FKRHFLKIKGKLSD-VVSTQKVWLPP

Xenopus laevis                FKRHFLKIKKKMDA-VVAVQKV-LPD

Caenorhabditis elegans        FKKMFMDVRNRMHEWICTDGNNWLAN

Drosophila                    FKRRFIKIKNALEDIVLKGPTTWPIA

Baker's yeast                 WRRLFKKI----ST-IC-RDIILIPN

Fission yeast                 WRKFFKNVVSSIGKPIVLTDVSQN--

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	1 – 476	Serine/threonine-protein kinase Chk1
Region	391 – 476	Autoinhibitory region
Modified residue	467 – 467	Phosphoserine
Modified residue	468 – 468	Phosphoserine
Mutagenesis	468 – 468	S -> A. No effect on phosphorylation induced by hydroxyurea.

Literature citations
Conservation of the Chk1 checkpoint pathway in mammals: linkage of DNA damage to Cdk regulation through Cdc25.
Sanchez Y.; Wong C.; Thoma R.S.; Richman R.; Wu Z.; Piwnica-Worms H.; Elledge S.J.;
Science 277:1497-1501(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION IN PHOSPHORYLATION OF CDC25A; CDC25B AND CDC25C; CATALYTIC ACTIVITY; INTERACTION WITH CDC25A; CDC25B AND CDC25C; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; MUTAGENESIS OF ASP-130; VARIANT VAL-471; Atm-dependent interactions of a mammalian chk1 homolog with meiotic chromosomes.
Flaggs G.; Plug A.W.; Dunks K.M.; Mundt K.E.; Ford J.C.; Quiggle M.R.E.; Taylor E.M.; Westphal C.H.; Ashley T.; Hoekstra M.F.; Carr A.M.;
Curr. Biol. 7:977-986(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; SUBCELLULAR LOCATION; VARIANT VAL-471; Analysis of the candidate target genes for mutation in microsatellite instability-positive cancers of the colorectum, stomach, and endometrium.
Semba S.; Ouyang H.; Han S.-Y.; Kato Y.; Horii A.;
Int. J. Oncol. 16:731-737(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT VAL-471; 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 1; 2 AND 3); VARIANT VAL-471; Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLN-156 AND VAL-471; Human protein factory for converting the transcriptome into an in vitro-expressed proteome.
Goshima N.; Kawamura Y.; Fukumoto A.; Miura A.; Honma R.; Satoh R.; Wakamatsu A.; Yamamoto J.; Kimura K.; Nishikawa T.; Andoh T.; Iida Y.; Ishikawa K.; Ito E.; Kagawa N.; Kaminaga C.; Kanehori K.; Kawakami B.; Kenmochi K.; Kimura R.; Kobayashi M.; Kuroita T.; Kuwayama H.; Maruyama Y.; Matsuo K.; Minami K.; Mitsubori M.; Mori M.; Morishita R.; Murase A.; Nishikawa A.; Nishikawa S.; Okamoto T.; Sakagami N.; Sakamoto Y.; Sasaki Y.; Seki T.; Sono S.; Sugiyama A.; Sumiya T.; Takayama T.; Takayama Y.; Takeda H.; Togashi T.; Yahata K.; Yamada H.; Yanagisawa Y.; Endo Y.; Imamoto F.; Kisu Y.; Tanaka S.; Isogai T.; Imai J.; Watanabe S.; Nomura N.;
Nat. Methods 5:1011-1017(2008)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT VAL-471; Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT VAL-471; 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 1); VARIANT VAL-471;

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.