RUNX1 M25K

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Mutation:

Summary

Isoform:

NM_001001890

Position:

Ref:

Mutation:

PTM impact:

proximal

PTM affected:

Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Anaplastic ependymoma, Familial platelet disorder with associated myeloid malignancy

Minor Allele Frequency: (ESP6500)

[0.0469]

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 18T

Affected site:

Position: 18

Residue: T

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
22L	RRFTPPSTALS[P/L]PGKM	4	distal
22T	RRFTPPSTALS[P/T]PGKM	4	distal
20Q	RRFTPPSTA[L/Q]LSPGKM	2	proximal
16S	RRFTP[P/S]PSTALSPGKM	2	proximal
14M	RRF[T/M]TPPSTALSPGKM	4	distal
12C	R[R/C]RFTPPSTALSPGKM	6	distal

PTM Site: 21S

Affected site:

Position: 21

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
26G	TPPSTALSPGKM[S/G]SEA	5	distal
25I	TPPSTALSPGK[M/I]MSEA	4	distal
25K	TPPSTALSPGK[M/K]MSEA	4	distal
22L	TPPSTALS[P/L]PGKMSEA	1	network-rewiring
22T	TPPSTALS[P/T]PGKMSEA	1	network-rewiring
20Q	TPPSTA[L/Q]LSPGKMSEA	1	proximal
16S	TP[P/S]PSTALSPGKMSEA	5	distal

PTM Site: 24K

Affected site:

Position: 24

Residue: K

Type: acetylation, ubiquitination

Impact:

proximal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
30L	STALSPGKMSEAL[P/L]PL	6	distal
30R	STALSPGKMSEAL[P/R]PL	6	distal
29S	STALSPGKMSEA[L/S]LPL	5	distal
28E	STALSPGKMSE[A/E]ALPL	4	distal
26G	STALSPGKM[S/G]SEALPL	2	proximal
25I	STALSPGK[M/I]MSEALPL	1	proximal
25K	STALSPGK[M/K]MSEALPL	1	proximal
22L	STALS[P/L]PGKMSEALPL	2	proximal
22T	STALS[P/T]PGKMSEALPL	2	proximal
20Q	STA[L/Q]LSPGKMSEALPL	4	distal

External references

dbSNP:

rs200431130

If you have any questions or feedback about this mutation: