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KARS Mutation

Jaíde

Created on October 28, 2025

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KRS Mutation

by: JAIDEN

INDEX

AUDIO

GRAPH + TEXT

LOGO PAGE

EMBEDDED CONTENT

TABLE + TEXT

SUMMARY

INTERACTIVE QUESTION

PROCESS/LIST

HEALTH CONDITION

CONCLUSIONS

VIDEOS

RELEVANT DATA

CLOSURE

TEXT + ICONS

TIMELINE

232323

HI-SCORE

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232323

HI-SCORE

SUMMARY

"The KRAS gene provides instructions for making a protein called K-Ras that is part of a signaling pathway known as the RAS/MAPK pathway. The protein relays signals from outside the cell to the cell's nucleus. These signals instruct the cell to grow and divide (proliferate) or to mature and take on specialized functions (differentiate). The K-Ras protein is a GTPase, which means it converts a molecule called GTP into another molecule called GDP. In this way the K-Ras protein acts like a switch that is turned on and off by the GTP and GDP molecules. To transmit signals, it must be turned on by attaching (binding) to a molecule of GTP. The K-Ras protein is turned off (inactivated) when it converts the GTP to GDP. When the protein is bound to GDP, it does not relay signals to the cell's nucleus".

© 2025 Jaint retro games

explain to me!!

EXPLAINING KRAS MUTATION

KARS MUTATION

Protein: KRAS — a small GTPase. Mutation used for this project: p.G12C (glycine at position 12 → cysteine). Why chosen: Position 12 is a major oncogenic hotspot in KRAS, and G12C is clinically important because mutation-selective inhibitors have been developed.

+ INFO

What is it??!!

RAS proteins (KRAS4A, KRAS4B, NRAS and HRAS) function as GDP–GTP-regulated binary on-off switches, which regulate cytoplasmic signaling networks that control diverse normal cellular processes.

+ INFO

I FOUND IT...

WHERE IS THE KARS MUTATION LOCATED?

Found it...

Subcellular location: Plasma membrane–associated, anchored by C-terminal lipid modifications (prenylation and other motifs in the hypervariable region). The G-domain (N-terminal ~1–166 aa), where GTP/GDP bind is cytosolic, but the protein localizes to the inner leaflet of the plasma membrane to engage effectors.

Cell types: Expressed widely in many cell types and tissues; KRAS is particularly important in epithelial tissues and is often mutated in epithelial cancers (e.g., lung, colon, pancreatic). KRAS4B is the predominant splice form in many tissues.

Organisms: KRAS is conserved across animals (mammals, vertebrates), with RAS family orthologs in many eukaryotes; bacteria do not have RAS, but the RAS pathway concept (GTPases) is evolutionarily ancient. Human KRAS is the focus of the provided sources

+ INFO

KARSOUSEL

WILD TYPE KRAS

HEALTH CONDITIONS

WHAT ARE SOME HEALTH CONDITIONS CAUSED BY KARS?

HEALTH CONDITIONS pt.1

Cardiofaciocutaneous syndrome

Cardiofaciocutaneous syndromeMutations in the KRAS gene are an uncommon cause of cardiofaciocutaneous syndrome, accounting for less than 5 percent of cases. Several mutations in the KRAS gene have been identified in people with characteristic features of the disorder, which include heart defects, distinctive facial features, and skin abnormalities.

HEALTH CONDITIONS pt.2

Lung cancer

Three mutations in the KRAS gene have been associated with lung cancer. Lung cancer is a disease in which certain cells in the lungs become abnormal and multiply uncontrollably to form a tumor.These mutations result in a K-Ras protein that is constantly turned on (constitutively activated) and directs cells to proliferate in an uncontrolled way, which leads to tumor formation.

the change

Type of change the mutation has on protein function

Type of change the mutation has on protein function

The protein becomes more active

Mutations at codon 12 (including G12C) impair GTP hydrolysis (often by interfering with GAP-mediated hydrolysis), causing KRAS to accumulate in the GTP-bound active state. Active KRAS persistently activates downstream signaling (RAF/MEK/ERK, PI3K) and drives oncogenic growth. KRAS hotspot mutations are functionally activating (oncogenic).

3D MODEL &STRUCTURE CHANGE

How structure change impacts function

KARS CAN HAPPEN IN...

limitations of physical model

Membrane interaction details: Prenylation, electrostatic interactions, and membrane microdomains are oversimplified. Drug interactions: Covalent inhibitor binding geometry (e.g., sotorasib binding to G12C) is not represented at atomic precision. Conclusion: The model is excellent for showing location, relative size change, and functional consequence (ON vs OFF), but it cannot recreate detailed biochemistry or dynamics.

  • Scale & resolution: The physical model cannot capture atomic-level details (electrostatic surface, actual bond angles, H-bonds, Mg²⁺ coordination in the nucleotide pocket).
Dynamics: KRAS cycles rapidly between GDP and GTP conformations; a static clay/pipe-cleaner model can’t show dynamic switching or kinetics. Chemical environment: Cytosolic redox, ionic strength, and protein–protein interactions (GAPs, GEFs, effectors, membranes) are not represented.

a) Main functional groups present in the original AA side chain (Glycine) .

How structure change impacts function PT.1

a) Main functional groups present in the original AA side chain (Glycine) Glycine: side chain is a single hydrogen (—H). No functional group beyond the backbone; provides maximal backbone flexibility. No charged or polar side chain groups.

b) Properties of original AA side chain Hydrophobic/hydrophilic/charged: Glycine is effectively neutral and non-polar (tiny). Size: Smallest amino acid — provides flexibility for backbone conformation (important in tight loops like the P-loop).

c) Types of bonds Glycine participates in Glycine’s side chain cannot form side-chain hydrogen bonds or ionic bonds; it contributes flexibility to backbone conformation and allows tight packing. Glycine participates in peptide backbone bonds and allows neighboring residues to adopt conformations that bulkier residues would not.

a) Main functional groups present in the original AA side chain (Glycine) .

How structure change impacts function PT.2

d) Properties of the new mutated AA side chain (Cysteine) Main functional group: Thiol (—SH). Hydrophilic/hydrophobic/charged: Cysteine is polar uncharged (somewhat hydrophobic in certain contexts) and can form weak hydrogen bonds; the thiol is chemically reactive. Size: Larger than glycine (has a side chain), introduces steric bulk at position 12.

e) Differences in types of bonds the mutated side chain can form vs the original Cysteine can form disulfide bonds (—S—S—) if two cysteines are proximal in an oxidizing environment (rare in the cytosol), can engage in thiol-containing reactions, and can be covalently targeted by electrophilic inhibitors (e.g., G12C covalent inhibitors). Glycine could not. Cysteine can also participate in weak polar interactions and influence local packing via its bulk.

a) Main functional groups present in the original AA side chain (Glycine) .

e) Differences in types of bonds the mutated side chain can form vs original Cysteine can form disulfide bonds (—S—S—) if two cysteines are proximal in an oxidizing environment (rare in the cytosol), can engage in thiol-containing reactions, and can be covalently targeted by electrophilic inhibitors (e.g., G12C covalent inhibitors). Glycine could not. Cysteine can also participate in weak polar interactions and influence local packing via its bulk.

How structure change impacts function PT.3

) How the mutation affects protein → cell → organism Protein level: G12C reduces GAP-mediated GTP hydrolysis and biases KRAS toward the active GTP-bound conformation → increased downstream effector binding and signaling. PMC Cell level: Persistent KRAS signaling drives uncontrolled proliferation, survival signals, metabolic rewiring, and other oncogenic processes (depends on tissue context). This is why KRAS G12 mutations are oncogenic drivers in cancers (e.g., lung adenocarcinoma, pancreatic adenocarcinoma). PMC +1 Organism level: Cells with KRAS activating mutations can form tumors; carcinogenesis, organ dysfunction, metastasis and clinical disease (cancer). The specific phenotype depends on tissue, additional cooperating mutations, and whole-organism context

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Sources

https://medlineplus.gov/genetics/gene/kras/#conditionshttps://pmc.ncbi.nlm.nih.gov/articles/PMC4869631/ https://www.amgen.com/newsroom/company-statements/archives/statements-and-responses/amgen-statement-on-additional-biomarker-analysis-beyond-kras-from-completed-phase-3-study?q=kras
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BUTTON

+INFO

+INFO

With this function...

RAS genes are found in ∼25% of human cancers, prompting interest in identifying anti-RAS therapeutic strategies for cancer treatment. After decades of research, there are No anti-RAS therapies have reached clinical application.

Functional category:

GTPase (oncogene when mutated).Why: KRAS does not act as a structural protein or transcription factor — it transmits (relays) extracellular signals from activated receptor tyrosine kinases into intracellular signaling cascades via binding and activating effector proteins. That is the canonical definition of a relay/signal-transducing molecule.

FOUND IT...

"The KRAS gene belongs to a class of genes known as oncogenes. When mutated, oncogenes have the potential to cause normal cells to become cancerous. The KRAS gene is in the Ras family of oncogenes, which also includes two other genes: HRAS and NRAS. These proteins play important roles in cell division, cell differentiation, and the self-destruction of cells (apoptosis)". THE KARS GENE IS FOUND ON CHROMOSOME 12