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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08237: Variant p.Arg39Pro

ATP-dependent 6-phosphofructokinase, muscle type
Gene: PFKM
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Variant information Variant position: help 39
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Proline (P) at position 39 (R39P, p.Arg39Pro).
Physico-chemical properties: help Change from large size and basic (R) to medium size and hydrophobic (P)
BLOSUM score: help -2
Variant description: help In GSD7; Italian.
Other resources: help


Sequence information Variant position: help 39
Protein sequence length: help 780
Location on the sequence: help AVLTSGGDAQGMNAAVRAVV R VGIFTGARVFFVHEGYQGLV
Residue conservation: help
Human                         AVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLV

                              AVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLV

Mouse                         AVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLV

Rat                           AVLTSGGDAQGMNATVRAVVRVGIFTGLRVFFVHEGYQGLV

Pig                           AVLTSGGDAQGMNAAVRAVVRVGIYTGARVFFVHEGYQGLV

Bovine                        AVLTSGGDAQGMNAAVRAVVRVGIYTGARVFFVHEGYQGLV

Rabbit                        AVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLV

Horse                         AVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLV

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 780 ATP-dependent 6-phosphofructokinase, muscle type
Region 2 – 390 N-terminal catalytic PFK domain 1
Binding site 25 – 25



Literature citations
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.
Tsujino S.; Servidei S.; Tonin P.; Shanske S.; Azan G.; DiMauro S.;
Am. J. Hum. Genet. 54:812-819(1994)
Cited for: VARIANTS GSD7 PRO-39 AND ALA-543;
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.