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UniProtKB/Swiss-Prot Q9BZ23: Variant p.Gly521Arg

Pantothenate kinase 2, mitochondrial
Gene: PANK2
Variant information

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

Type of variant:  LP/P [Disclaimer]
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 Glycine (G) to Arginine (R) at position 521 (G521R, p.Gly521Arg).
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 glycine (G) to large size and basic (R)
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

Variant description:  In NBIA1; classic and atypical forms; loss of enzyme activity; no effect on its mitochondrial localization; loss of proteolytic cleavage to yield the mature form.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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

Protein sequence length:  570
The length of the canonical sequence.

Location on the sequence:   IGSIARMCALNENINQVVFV  G NFLRINTIAMRLLAYALDYW
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.

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 32 – 570 Pantothenate kinase 2, mitochondrial intermediate form
Chain 141 – 570 Pantothenate kinase 2, mitochondrial mature form
Beta strand 516 – 521


Literature citations

Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2.
Kotzbauer P.T.; Truax A.C.; Trojanowski J.Q.; Lee V.M.;
J. Neurosci. 25:689-698(2005)
Cited for: PROTEIN SEQUENCE OF N-TERMINUS; CHARACTERIZATION OF VARIANTS NBIA1 GLY-134; VAL-219; ALA-234; ASN-471; ARG-521 AND MET-528; PROTEOLYTIC PROCESSING BY MPP; CLEAVAGE SITE; FUNCTION (ISOFORM 1); CATALYTIC ACTIVITY (ISOFORM 1); SUBCELLULAR LOCATION (ISOFORM 1); SUBUNIT; ACTIVITY REGULATION (ISOFORM 1); TISSUE SPECIFICITY;

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.
Zhou B.; Westaway S.K.; Levinson B.; Johnson M.A.; Gitschier J.; Hayflick S.J.;
Nat. Genet. 28:345-349(2001)
Cited for: IDENTIFICATION; ALTERNATIVE INITIATION AT LEU-111; VARIANTS GLN-111 AND ALA-126; VARIANTS NBIA1 VAL-219; ALA-234; TRP-264; CYS-278; VAL-282; CYS-286; ILE-327; PRO-351; SER-355; ILE-404; PRO-413; ASN-471; THR-497; ILE-500; ARG-521 AND MET-528; TISSUE SPECIFICITY;

Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions.
Nicholas A.P.; Earnst K.S.; Marson D.C.;
Mov. Disord. 20:880-886(2005)
Cited for: VARIANTS NBIA1 ARG-521 AND LEU-570;

Biochemical properties of human pantothenate kinase 2 isoforms and mutations linked to pantothenate kinase-associated neurodegeneration.
Zhang Y.M.; Rock C.O.; Jackowski S.;
J. Biol. Chem. 281:107-114(2006)
Cited for: CHARACTERIZATION OF VARIANTS NBIA1 VAL-219; ALA-234; TRP-264; CYS-286; ILE-327; PRO-351; ILE-404; ASN-471; ILE-500; VAL-509; ARG-521; MET-528 AND TRP-532; FUNCTION (ISOFORMS 1 AND 4); CATALYTIC ACTIVITY (ISOFORMS 1 AND 4); SUBUNIT; ACTIVITY REGULATION (ISOFORM 1); PROTEOLYTIC PROCESSING; BIOPHYSICOCHEMICAL PROPERTIES;

A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.
Perez-Gonzalez E.A.; Chacon-Camacho O.F.; Arteaga-Vazquez J.; Zenteno J.C.; Mutchinick O.M.;
Eur. J. Med. Genet. 56:606-608(2013)
Cited for: VARIANTS NBIA1 ARG-521 AND SER-555;

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.