BRCA1 S449P

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Mutation:

Summary

Isoform:

NM_007300

Position:

449

Ref:

Mutation:

PTM impact:

proximal

PTM affected:

Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Hereditary breast and ovarian cancer syndrome

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 443K

Affected site:

Position: 443

Residue: K

Type: sumoylation, ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
449P	PHEALICKSERVH[S/P]SK	6	distal
448P	PHEALICKSERV[H/P]HSK	5	distal
448Y	PHEALICKSERV[H/Y]HSK	5	distal
447I	PHEALICKSER[V/I]VHSK	4	distal
446G	PHEALICKSE[R/G]RVHSK	3	distal
445G	PHEALICKS[E/G]ERVHSK	2	proximal
445Q	PHEALICKS[E/Q]ERVHSK	2	proximal
444R	PHEALICK[S/R]SERVHSK	1	proximal
444N	PHEALICK[S/N]SERVHSK	1	proximal
442R	PHEALI[C/R]CKSERVHSK	1	proximal
442S	PHEALI[C/S]CKSERVHSK	1	proximal
441M	PHEAL[I/M]ICKSERVHSK	2	proximal
441T	PHEAL[I/T]ICKSERVHSK	2	proximal
441V	PHEAL[I/V]ICKSERVHSK	2	proximal
440S	PHEA[L/S]LICKSERVHSK	3	distal
439G	PHE[A/G]ALICKSERVHSK	4	distal
439S	PHE[A/S]ALICKSERVHSK	4	distal
439T	PHE[A/T]ALICKSERVHSK	4	distal
437R	P[H/R]HEALICKSERVHSK	6	distal
437P	P[H/P]HEALICKSERVHSK	6	distal
437Y	P[H/Y]HEALICKSERVHSK	6	distal
446T	PHEALICKSE[R/T]RVHSK	3	distal

PTM Site: 450K

Affected site:

Position: 450

Residue: K

Type: ubiquitination

Impact:

proximal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
456T	KSERVHSKSVESN[I/T]IE	6	distal
455D	KSERVHSKSVES[N/D]NIE	5	distal
454N	KSERVHSKSVE[S/N]SNIE	4	distal
453Q	KSERVHSKSV[E/Q]ESNIE	3	distal
452A	KSERVHSKS[V/A]VESNIE	2	proximal
451A	KSERVHSK[S/A]SVESNIE	1	proximal
449P	KSERVH[S/P]SKSVESNIE	1	proximal
448P	KSERV[H/P]HSKSVESNIE	2	proximal
448Y	KSERV[H/Y]HSKSVESNIE	2	proximal
447I	KSER[V/I]VHSKSVESNIE	3	distal
446G	KSE[R/G]RVHSKSVESNIE	4	distal
445G	KS[E/G]ERVHSKSVESNIE	5	distal
445Q	KS[E/Q]ERVHSKSVESNIE	5	distal
444R	K[S/R]SERVHSKSVESNIE	6	distal
444N	K[S/N]SERVHSKSVESNIE	6	distal
446T	KSE[R/T]RVHSKSVESNIE	4	distal

PTM Site: 451S

Affected site:

Position: 451

Residue: S

Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
456T	SERVHSKSVESN[I/T]IED	5	distal
455D	SERVHSKSVES[N/D]NIED	4	distal
454N	SERVHSKSVE[S/N]SNIED	3	distal
453Q	SERVHSKSV[E/Q]ESNIED	2	proximal
452A	SERVHSKS[V/A]VESNIED	1	proximal
451A	SERVHSK[S/A]SVESNIED	0	direct
449P	SERVH[S/P]SKSVESNIED	2	proximal
448P	SERV[H/P]HSKSVESNIED	3	distal
448Y	SERV[H/Y]HSKSVESNIED	3	distal
447I	SER[V/I]VHSKSVESNIED	4	distal
446G	SE[R/G]RVHSKSVESNIED	5	network-rewiring
445G	S[E/G]ERVHSKSVESNIED	6	distal
445Q	S[E/Q]ERVHSKSVESNIED	6	distal
446T	SE[R/T]RVHSKSVESNIED	5	network-rewiring

PTM Site: 454S

Affected site:

Position: 454

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
460R	VHSKSVESNIEDK[I/R]IF	6	distal
460T	VHSKSVESNIEDK[I/T]IF	6	distal
459N	VHSKSVESNIED[K/N]KIF	5	distal
459Q	VHSKSVESNIED[K/Q]KIF	5	distal
456T	VHSKSVESN[I/T]IEDKIF	2	proximal
455D	VHSKSVES[N/D]NIEDKIF	1	proximal
454N	VHSKSVE[S/N]SNIEDKIF	0	direct
453Q	VHSKSV[E/Q]ESNIEDKIF	1	proximal
452A	VHSKS[V/A]VESNIEDKIF	2	proximal
451A	VHSK[S/A]SVESNIEDKIF	3	distal
449P	VH[S/P]SKSVESNIEDKIF	5	distal
448P	V[H/P]HSKSVESNIEDKIF	6	distal
448Y	V[H/Y]HSKSVESNIEDKIF	6	distal

External references

dbSNP:

rs1597876653

If you have any questions or feedback about this mutation: