EGFR R224C

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Mutation:

Summary

Isoform:

NM_201284

Position:

224

Ref:

Mutation:

PTM impact:

direct

PTM affected:

Kinases:

AKT2, AKT1

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

EGFR-related lung cancer

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 222R

Affected site:

Position: 222

Residue: R

Type: methylation

Impact:

proximal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
221R	CAQQCS[G/R]GRCRGKSPS	1	proximal
222H	CAQQCSG[R/H]RCRGKSPS	0	direct
224C	CAQQCSGRC[R/C]RGKSPS	2	proximal
224H	CAQQCSGRC[R/H]RGKSPS	2	proximal
222C	CAQQCSG[R/C]RCRGKSPS	0	direct
223Y	CAQQCSGR[C/Y]CRGKSPS	1	proximal

PTM Site: 224R

Affected site:

Position: 224

Residue: R

Type: methylation

Impact:

direct

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
221R	QQCS[G/R]GRCRGKSPSDC	3	distal
222H	QQCSG[R/H]RCRGKSPSDC	2	proximal
224C	QQCSGRC[R/C]RGKSPSDC	0	direct
224H	QQCSGRC[R/H]RGKSPSDC	0	direct
222C	QQCSG[R/C]RCRGKSPSDC	2	proximal
229C	QQCSGRCRGKSP[S/C]SDC	5	distal
223Y	QQCSGR[C/Y]CRGKSPSDC	1	proximal

PTM Site: 229S

Affected site:

Position: 229

Residue: S

Type: phosphorylation

Only loss of PTM site:

AKT1 (probability p=0.949)

Site: 229S (phosphorylation)

Position in motif: -5

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
224C	RC[R/C]RGKSPSDCCHNQC	5	network-rewiring
224H	RC[R/H]RGKSPSDCCHNQC	5	network-rewiring
229C	RCRGKSP[S/C]SDCCHNQC	0	direct
223Y	R[C/Y]CRGKSPSDCCHNQC	6	distal
234S	RCRGKSPSDCCH[N/S]NQC	5	distal

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