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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BZ23: Variant p.Arg357Gln

Pantothenate kinase 2, mitochondrial
Gene: PANK2
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Variant information Variant position: help 357
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Glutamine (Q) at position 357 (R357Q, p.Arg357Gln).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score: help 1
Variant description: help In NBIA1.
Other resources: help


Sequence information Variant position: help 357
Protein sequence length: help 570
Location on the sequence: help DELDCLIKGILYIDSVGFNG R SQCYYFENPADSEKCQKLPF
Residue conservation: help
Human                         DELDCLIKGILYIDSVGFNGRSQCYYFENPADSEKCQKLPF

Mouse                         DELDCLIKGILYIDSVGFNGRSQCYYFENPADSEKCQKLPF

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
Beta strand 354 – 357



Literature citations
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
Hayflick S.J.; Westaway S.K.; Levinson B.; Zhou B.; Johnson M.A.; Ching K.H.; Gitschier J.;
N. Engl. J. Med. 348:33-40(2003)
Cited for: VARIANTS NBIA1 GLY-134; PRO-249; LEU-278; ASP-322; GLY-322; GLN-357; THR-398; LEU-425 DEL; TYR-428; ASN-447; THR-501; VAL-509; ASP-511; TRP-532; PRO-563 AND LEU-570;
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.