UniProtKB/Swiss-Prot Q9BXM7: Variant p.Asn521Thr

Serine/threonine-protein kinase PINK1, mitochondrial
Gene: PINK1
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Variant information Variant position:

521 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 Asparagine (N) to Threonine (T) at position 521 (N521T, p.Asn521Thr). 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 polar. 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 rs1043424 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

RVAANVLHLSLWGEHILALK N LKLDKMVGWLLQQSAATLLA 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                         RVAANVLHLSLW--GEHILALK-----------------------NLKLDKMVGWLLQQSAATLLA

Mouse                         RLAANVLHLSLW--GEHLLALK-------------------

Rat                           RIAANVLHLSLW--GEHLLALK-------------------

Caenorhabditis elegans        NIAANALNLSLFRMGEDVKQMMEKCGISQMTTLLAGSSKVL

Drosophila                    DIAANVVQLFLWAPSNWLKAGG-------------------

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	78 – 581	Serine/threonine-protein kinase PINK1, mitochondrial
Topological domain	111 – 581	Cytoplasmic

Literature citations
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 2); VARIANTS THR-340 AND THR-521; PINK1 mutations are associated with sporadic early-onset parkinsonism.
Valente E.M.; Salvi S.; Ialongo T.; Marongiu R.; Elia A.E.; Caputo V.; Romito L.; Albanese A.; Dallapiccola B.; Bentivoglio A.R.;
Ann. Neurol. 56:336-341(2004)
Cited for: VARIANTS PARK6 PHE-92; PRO-168 AND HIS-464; VARIANTS LEU-296; THR-340; THR-442; LYS-476; THR-521 AND ASN-525; Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.
Rogaeva E.; Johnson J.; Lang A.E.; Gulick C.; Gwinn-Hardy K.; Kawarai T.; Sato C.; Morgan A.; Werner J.; Nussbaum R.; Petit A.; Okun M.S.; McInerney A.; Mandel R.; Groen J.L.; Fernandez H.H.; Postuma R.; Foote K.D.; Salehi-Rad S.; Liang Y.; Reimsnider S.; Tandon A.; Hardy J.; St George-Hyslop P.; Singleton A.B.;
Arch. Neurol. 61:1898-1904(2004)
Cited for: VARIANTS PARK6 LYS-240; PRO-347 AND PRO-489; VARIANTS GLY-231; ILE-235; GLY-263; LEU-318; THR-339; THR-340; HIS-362; SER-425; LYS-476 AND THR-521; Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.
Bonifati V.; Rohe C.F.; Breedveld G.J.; Fabrizio E.; De Mari M.; Tassorelli C.; Tavella A.; Marconi R.; Nicholl D.J.; Chien H.F.; Fincati E.; Abbruzzese G.; Marini P.; De Gaetano A.; Horstink M.W.; Maat-Kievit J.A.; Sampaio C.; Antonini A.; Stocchi F.; Montagna P.; Toni V.; Guidi M.; Dalla Libera A.; Tinazzi M.; De Pandis F.; Fabbrini G.; Goldwurm S.; de Klein A.; Barbosa E.; Lopiano L.; Martignoni E.; Lamberti P.; Vanacore N.; Meco G.; Oostra B.A.;
Neurology 65:87-95(2005)
Cited for: VARIANTS PARK6 PRO-168 AND LEU-196; VARIANTS LEU-115; THR-340; LYS-476 AND THR-521; PINK1 mutations in sporadic early-onset Parkinson's disease.
Tan E.-K.; Yew K.; Chua E.; Puvan K.; Shen H.; Lee E.; Puong K.-Y.; Zhao Y.; Pavanni R.; Wong M.-C.; Jamora D.; de Silva D.; Moe K.-T.; Woon F.-P.; Yuen Y.; Tan L.;
Mov. Disord. 21:789-793(2006)
Cited for: VARIANT PARK6 THR-280; VARIANTS THR-340 AND THR-521; Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan.
Fung H.-C.; Chen C.-M.; Hardy J.; Singleton A.B.; Lee-Chen G.-J.; Wu Y.-R.;
Neurosci. Lett. 394:33-36(2006)
Cited for: VARIANT PARK6 GLN-407; VARIANTS THR-340 AND THR-521; Patterns of somatic mutation in human cancer genomes.
Greenman C.; Stephens P.; Smith R.; Dalgliesh G.L.; Hunter C.; Bignell G.; Davies H.; Teague J.; Butler A.; Stevens C.; Edkins S.; O'Meara S.; Vastrik I.; Schmidt E.E.; Avis T.; Barthorpe S.; Bhamra G.; Buck G.; Choudhury B.; Clements J.; Cole J.; Dicks E.; Forbes S.; Gray K.; Halliday K.; Harrison R.; Hills K.; Hinton J.; Jenkinson A.; Jones D.; Menzies A.; Mironenko T.; Perry J.; Raine K.; Richardson D.; Shepherd R.; Small A.; Tofts C.; Varian J.; Webb T.; West S.; Widaa S.; Yates A.; Cahill D.P.; Louis D.N.; Goldstraw P.; Nicholson A.G.; Brasseur F.; Looijenga L.; Weber B.L.; Chiew Y.-E.; DeFazio A.; Greaves M.F.; Green A.R.; Campbell P.; Birney E.; Easton D.F.; Chenevix-Trench G.; Tan M.-H.; Khoo S.K.; Teh B.T.; Yuen S.T.; Leung S.Y.; Wooster R.; Futreal P.A.; Stratton M.R.;
Nature 446:153-158(2007)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] TRP-148; SER-196; LEU-209; LEU-215; THR-339; THR-340; ILE-341; PHE-377; THR-477 AND THR-521;

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.