UniProtKB/SwissProt variant VAR

ATP-dependent 6-phosphofructokinase, muscle type
Gene: PFKM
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Variant information Variant position:

39
Type of variant:

LP/P [Disclaimer]
Residue change:

From Arginine (R) to Proline (P) at position 39 (R39P, p.Arg39Pro).
Physico-chemical properties:

Change from large size and basic (R) to medium size and hydrophobic (P)
BLOSUM score:

-2
Variant description:

In GSD7; Italian.
Other resources:

Variant rs121918193 [ dbSNP | Ensembl ]

Sequence information Variant position:

39
Protein sequence length:

780
Location on the sequence:

AVLTSGGDAQGMNAAVRAVV R VGIFTGARVFFVHEGYQGLV
Residue conservation:

Human                         AVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLV

                              AVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLV

Mouse                         AVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLV

Rat                           AVLTSGGDAQGMNATVRAVVRVGIFTGLRVFFVHEGYQGLV

Pig                           AVLTSGGDAQGMNAAVRAVVRVGIYTGARVFFVHEGYQGLV

Bovine                        AVLTSGGDAQGMNAAVRAVVRVGIYTGARVFFVHEGYQGLV

Rabbit                        AVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLV

Horse                         AVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLV

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08237: Variant p.Arg39Pro