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UniProtKB/Swiss-Prot Q9BXM7: Variant p.Asp362His

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

Variant position:  362
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 Aspartate (D) to Histidine (H) at position 362 (D362H, p.Asp362His).
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 medium size and acidic (D) to medium size and polar (H)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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



Sequence information

Variant position:  362
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:   MLLQLLEGVDHLVQQGIAHR  D LKSDNILVELDPDGCPWLVI
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                         MLLQLLEGVDHLVQQGIAHRDLKSDNILVELD-PDGCPWLVI

Mouse                         MTLQLLEGVDHLVQQGIAHRDLKSDNILVEWD-SDGCPWLV

Rat                           MTLQLLEGVDHLVQQGIAHRDLKSDNILVEWD-SDGCPWLV

Caenorhabditis elegans        IIAQLLEACTYLHKHKVAQRDMKSDNILLEYDFDDEIPQLV

Drosophila                    LLAQMLEAVNHLSRHGVAHRDLKSDNVLIELQ-DDAAPVLV

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.

TypePositionsDescription
Chain 78 – 581 Serine/threonine-protein kinase PINK1, mitochondrial
Topological domain 111 – 581 Cytoplasmic
Domain 156 – 511 Protein kinase
Active site 362 – 362 Proton acceptor
Mutagenesis 362 – 362 D -> A. Abolishes MFN2 phosphorylation and interaction with PRKN; when associated with A-219 and A-384. Loss of enzyme activity and impaired localization of PRKN to mitochondria; when associated with M-219 and A-384.


Literature citations

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;

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.