BCLAF1 R131W

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Mutation:

Summary

Isoform:

NM_001077441

Position:

131

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)

[0.0077]

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 125S

Affected site:

Position: 125

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
131Q	RSVSSQRSRSRSR[R/Q]RS	6	distal
131W	RSVSSQRSRSRSR[R/W]RS	6	distal
130H	RSVSSQRSRSRS[R/H]RRS	5	distal
128K	RSVSSQRSRS[R/K]RSRRS	3	distal
131P	RSVSSQRSRSRSR[R/P]RS	6	distal
128I	RSVSSQRSRS[R/I]RSRRS	3	distal
120F	RS[V/F]VSSQRSRSRSRRS	5	distal
129A	RSVSSQRSRSR[S/A]SRRS	4	distal
125F	RSVSSQR[S/F]SRSRSRRS	0	direct
120L	RS[V/L]VSSQRSRSRSRRS	5	distal
124S	RSVSSQ[R/S]RSRSRSRRS	1	proximal

PTM Site: 132S

Affected site:

Position: 132

Residue: S

Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
134I	SRSRSRRSY[R/I]RSSRSP	2	proximal
131Q	SRSRSR[R/Q]RSYRSSRSP	1	proximal
131W	SRSRSR[R/W]RSYRSSRSP	1	proximal
130H	SRSRS[R/H]RRSYRSSRSP	2	network-rewiring
137K	SRSRSRRSYRSS[R/K]RSP	5	distal
128K	SRS[R/K]RSRRSYRSSRSP	4	distal
131P	SRSRSR[R/P]RSYRSSRSP	1	proximal
128I	SRS[R/I]RSRRSYRSSRSP	4	distal
129A	SRSR[S/A]SRRSYRSSRSP	3	network-rewiring
137M	SRSRSRRSYRSS[R/M]RSP	5	distal

PTM Site: 133Y

Affected site:

Position: 133

Residue: Y

Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
134I	RSRSRRSY[R/I]RSSRSPR	1	proximal
131Q	RSRSR[R/Q]RSYRSSRSPR	2	proximal
131W	RSRSR[R/W]RSYRSSRSPR	2	proximal
130H	RSRS[R/H]RRSYRSSRSPR	3	distal
137K	RSRSRRSYRSS[R/K]RSPR	4	distal
128K	RS[R/K]RSRRSYRSSRSPR	5	distal
131P	RSRSR[R/P]RSYRSSRSPR	2	proximal
128I	RS[R/I]RSRRSYRSSRSPR	5	distal
129A	RSR[S/A]SRRSYRSSRSPR	4	distal
137M	RSRSRRSYRSS[R/M]RSPR	4	distal

PTM Site: 135S

Affected site:

Position: 135

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
134I	RSRRSY[R/I]RSSRSPRSS	1	proximal
131Q	RSR[R/Q]RSYRSSRSPRSS	4	distal
131W	RSR[R/W]RSYRSSRSPRSS	4	distal
130H	RS[R/H]RRSYRSSRSPRSS	5	network-rewiring
137K	RSRRSYRSS[R/K]RSPRSS	2	proximal
131P	RSR[R/P]RSYRSSRSPRSS	4	distal
141L	RSRRSYRSSRSPR[S/L]SS	6	distal
129A	R[S/A]SRRSYRSSRSPRSS	6	distal
137M	RSRRSYRSS[R/M]RSPRSS	2	network-rewiring

PTM Site: 136S

Affected site:

Position: 136

Residue: S

Type: phosphorylation

Only loss of PTM site:

AKT1 (probability p=0.908)

Site: 136S (phosphorylation)

Position in motif: -5

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
134I	SRRSY[R/I]RSSRSPRSSS	2	network-rewiring
131Q	SR[R/Q]RSYRSSRSPRSSS	5	network-rewiring
131W	SR[R/W]RSYRSSRSPRSSS	5	network-rewiring
130H	S[R/H]RRSYRSSRSPRSSS	6	distal
137K	SRRSYRSS[R/K]RSPRSSS	1	proximal
131P	SR[R/P]RSYRSSRSPRSSS	5	network-rewiring
141L	SRRSYRSSRSPR[S/L]SSS	5	distal
137M	SRRSYRSS[R/M]RSPRSSS	1	proximal

PTM Site: 138S

Affected site:

Position: 138

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
134I	RSY[R/I]RSSRSPRSSSSR	4	distal
137K	RSYRSS[R/K]RSPRSSSSR	1	proximal
141L	RSYRSSRSPR[S/L]SSSSR	3	distal
137M	RSYRSS[R/M]RSPRSSSSR	1	proximal
144A	RSYRSSRSPRSSS[S/A]SR	6	distal

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