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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01116: Variant p.Pro34Leu

GTPase KRas
Gene: KRAS
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Variant information Variant position: help 34
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Leucine (L) at position 34 (P34L, p.Pro34Leu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In NS3; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors.
Other resources: help


Sequence information Variant position: help 34
Protein sequence length: help 189
Location on the sequence: help VGKSALTIQLIQNHFVDEYD P TIEDSYRKQVVIDGETCLLD
Residue conservation: help 
Human                         VGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLD

Mouse                         VGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLD

Rat                           VGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLD

Xenopus laevis                VGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLD
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 186 GTPase KRas
Chain 2 – 186 GTPase KRas, N-terminally processed
Motif 32 – 40 Effector region
Binding site 29 – 35
Glycosylation 35 – 35 (Microbial infection) O-linked (Glc) threonine; by P.sordellii toxin TcsL
Mutagenesis 38 – 38 D -> A. Decreased interaction with MAPKAP1/SIN1.
Mutagenesis 40 – 40 Y -> A. Decreased interaction with MAPKAP1/SIN1.
Turn 34 – 36



Literature citations
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
Zenker M.; Lehmann K.; Schulz A.L.; Barth H.; Hansmann D.; Koenig R.; Korinthenberg R.; Kreiss-Nachtsheim M.; Meinecke P.; Morlot S.; Mundlos S.; Quante A.S.; Raskin S.; Schnabel D.; Wehner L.E.; Kratz C.P.; Horn D.; Kutsche K.;
J. Med. Genet. 44:131-135(2007)
Cited for: VARIANTS NS3 ILE-14; ARG-22; LEU-34; GLN-34; MET-36; VAL-153 AND ILE-156 (ISOFORM 2); VARIANT CFC2 GLU-22; VARIANTS ASN-5 AND LEU-156 (ISOFORM 2); Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
Gremer L.; Merbitz-Zahradnik T.; Dvorsky R.; Cirstea I.C.; Kratz C.P.; Zenker M.; Wittinghofer A.; Ahmadian M.R.;
Hum. Mutat. 32:33-43(2011)
Cited for: CHARACTERIZATION OF VARIANTS NS3 ILE-14; ARG-22; LEU-34; ILE-58 AND VAL-153 (ISOFORM 2); CHARACTERIZATION OF VARIANTS CFC2 GLU-22; ARG-34 AND ARG-60; CHARACTERIZATION OF VARIANTS ASN-5 AND LEU-156 (ISOFORM 2); FUNCTION; CATALYTIC ACTIVITY;
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.