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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BZ23: Variant p.Thr327Ile

Pantothenate kinase 2, mitochondrial
Gene: PANK2
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Variant information Variant position: help 327
Type of variant: help LP/P [Disclaimer]
Residue change: help From Threonine (T) to Isoleucine (I) at position 327 (T327I, p.Thr327Ile).
Physico-chemical properties: help Change from medium size and polar (T) to medium size and hydrophobic (I)
BLOSUM score: help -1
Variant description: help In NBIA1; no effect on enzyme activity.


Sequence information Variant position: help 327
Protein sequence length: help 570
Location on the sequence: help LHTVFCATGGGAYKFEQDFL T IGDLQLCKLDELDCLIKGIL
Residue conservation: help 
Human                         LHTVFCATGGGAYKFEQDFLTIGDLQLCKLDELDCLIKGIL

Mouse                         LHTVFCATGGGSYKFEQDFLTIGDLQLRKLDELDCLIKGIL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 32 – 570 Pantothenate kinase 2, mitochondrial intermediate form
Chain 141 – 570 Pantothenate kinase 2, mitochondrial mature form
Active site 338 – 338 Proton acceptor
Helix 322 – 329



Literature citations
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; 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;
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.