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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01116: Variant p.Ala146Thr

GTPase KRas
Gene: KRAS
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Variant information Variant position: help 146
Type of variant: help LP/P [Disclaimer]
Residue change: help From Alanine (A) to Threonine (T) at position 146 (A146T, p.Ala146Thr).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and polar (T)
BLOSUM score: help 0
Variant description: help In OES; somatic mutation; also found in colorectal cancer samples.
Other resources: help


Sequence information Variant position: help 146
Protein sequence length: help 189
Location on the sequence: help DTKQAQDLARSYGIPFIETS A KTRQRVEDAFYTLVREIRQY
Residue conservation: help 
Human                         DTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLVREIRQY

Mouse                         DTKQAQELARSYGIPFIETSAKTRQRVEDAFYTLVREIRQY

Rat                           DTKQAQELARSYGIPFIETSAKTRQRVEDAFYTLVREIRQY

Xenopus laevis                DTKQAQDLARSYGIPFIETSAKTRQGVDDAFYTLVREIRKH
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 186 GTPase KRas
Chain 2 – 186 GTPase KRas, N-terminally processed
Turn 146 – 148



Literature citations
The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] ALA-12; ASP-12; SER-12; VAL-12; ASP-13; ARG-61; ASN-117 AND THR-146; Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.
Boppudi S.; Boegershausen N.; Hove H.B.; Percin E.F.; Aslan D.; Dvorsky R.; Kayhan G.; Li Y.; Cursiefen C.; Tantcheva-Poor I.; Toft P.B.; Bartsch O.; Lissewski C.; Wieland I.; Jakubiczka S.; Wollnik B.; Ahmadian M.R.; Heindl L.M.; Zenker M.;
Clin. Genet. 90:334-342(2016)
Cited for: VARIANTS OES THR-146 AND VAL-146; INVOLVEMENT IN OES; Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.
Chacon-Camacho O.F.; Lopez-Moreno D.; Morales-Sanchez M.A.; Hofmann E.; Pacheco-Quito M.; Wieland I.; Cortes-Gonzalez V.; Villanueva-Mendoza C.; Zenker M.; Zenteno J.C.;
Mol. Genet. Genomic Med. 7:E625-E625(2019)
Cited for: VARIANT SFM ASP-12; VARIANTS OES THR-146 AND VAL-146; INVOLVEMENT IN SFM; INVOLVEMENT IN OES; KRAS A146 mutations are associated with distinct clinical behavior in patients with colorectal liver metastases.
van 't Erve I.; Wesdorp N.J.; Medina J.E.; Ferreira L.; Leal A.; Huiskens J.; Bolhuis K.; van Waesberghe J.T.M.; Swijnenburg R.J.; van den Broek D.; Velculescu V.E.; Kazemier G.; Punt C.J.A.; Meijer G.A.; Fijneman R.J.A.;
JCO Precis. Oncol. 5:0-0(2021)
Cited for: VARIANTS ALA-12; ASP-12; CYS-12; VAL-12; ASN-117 AND THR-146;
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.