MDM2 V281L

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Mutation:

Summary

Isoform:

NM_002392

Position:

281

Ref:

Mutation:

PTM impact:

proximal

PTM affected:

Kinases:

CSNK2A1, CSNK1D, ABL1, CSNK1D, SRC

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

no data

Minor Allele Frequency: (ESP6500)

[0.0084]

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 275S

Affected site:

Position: 275

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
273A	SEEGQ[E/A]ELSDEDDEVY	2	network-rewiring
281L	SEEGQELSDEDDE[V/L]VY	6	distal
270D	SE[E/D]EGQELSDEDDEVY	5	distal

PTM Site: 282Y

Affected site:

Position: 282

Residue: Y

Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
281L	SDEDDE[V/L]VYQVTVYQA	1	proximal
288H	SDEDDEVYQVTVY[Q/H]QA	6	distal
285P	SDEDDEVYQV[T/P]TVYQA	3	network-rewiring
282H	SDEDDEV[Y/H]YQVTVYQA	0	direct

PTM Site: 285T

Affected site:

Position: 285

Residue: T

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
281L	DDE[V/L]VYQVTVYQAGES	4	distal
288H	DDEVYQVTVY[Q/H]QAGES	3	distal
285P	DDEVYQV[T/P]TVYQAGES	0	direct
290W	DDEVYQVTVYQA[G/W]GES	5	distal
282H	DDEV[Y/H]YQVTVYQAGES	3	distal

PTM Site: 287Y

Affected site:

Position: 287

Residue: Y

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
281L	E[V/L]VYQVTVYQAGESDT	6	distal
288H	EVYQVTVY[Q/H]QAGESDT	1	proximal
285P	EVYQV[T/P]TVYQAGESDT	2	proximal
290W	EVYQVTVYQA[G/W]GESDT	3	distal
282H	EV[Y/H]YQVTVYQAGESDT	5	distal

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