BCLAF1 F191L

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Mutation:

Summary

Isoform:

NM_001077441

Position:

191

Ref:

Mutation:

PTM impact:

network-rewiring

PTM affected:

Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

no data

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

[0.0199681]

PTM Site: 188K

Affected site:

Position: 188

Residue: K

Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
187Q	SKSQEE[P/Q]PKDTFEHDP	1	proximal
191L	SKSQEEPKDT[F/L]FEHDP	3	distal
189G	SKSQEEPK[D/G]DTFEHDP	1	proximal
187L	SKSQEE[P/L]PKDTFEHDP	1	proximal
184L	SKS[Q/L]QEEPKDTFEHDP	4	distal

PTM Site: 190T

Affected site:

Position: 190

Residue: T

Type: phosphorylation

Only gain of PTM site:

PRKDC (probability p=0.984)

Site: 190T (phosphorylation)

Position in motif: 1

Only loss of PTM site:

PDPK1 (probability p=0.882)

Site: 190T (phosphorylation)

Position in motif: 1

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
187Q	SQEE[P/Q]PKDTFEHDPSE	3	distal
191L	SQEEPKDT[F/L]FEHDPSE	1	network-rewiring
189G	SQEEPK[D/G]DTFEHDPSE	1	proximal
187L	SQEE[P/L]PKDTFEHDPSE	3	distal
184L	S[Q/L]QEEPKDTFEHDPSE	6	distal

PTM Site: 196S

Affected site:

Position: 196

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
191L	DT[F/L]FEHDPSESIDEFN	5	distal
201K	DTFEHDPSESID[E/K]EFN	5	distal

PTM Site: 198S

Affected site:

Position: 198

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
201K	FEHDPSESID[E/K]EFNKS	3	network-rewiring

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