BRCA1 E421K

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Mutation:

Summary

Isoform:

NM_007300

Position:

421

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)

Breast-ovarian cancer, familial 1

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 423S

Affected site:

Position: 423

Residue: S

Type: phosphorylation

Only loss of PTM site:

PLK1 (probability p=0.966)

Site: 423S (phosphorylation)

Position in motif: -2

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
429R	LNEVDEYSGSSEK[I/R]ID	6	distal
429T	LNEVDEYSGSSEK[I/T]ID	6	distal
424R	LNEVDEYS[G/R]GSSEKID	1	proximal
424S	LNEVDEYS[G/S]GSSEKID	1	proximal
422F	LNEVDE[Y/F]YSGSSEKID	1	proximal
422C	LNEVDE[Y/C]YSGSSEKID	1	proximal
422H	LNEVDE[Y/H]YSGSSEKID	1	proximal
421G	LNEVD[E/G]EYSGSSEKID	2	network-rewiring
421K	LNEVD[E/K]EYSGSSEKID	2	network-rewiring
420G	LNEV[D/G]DEYSGSSEKID	3	distal
420Y	LNEV[D/Y]DEYSGSSEKID	3	distal
420H	LNEV[D/H]DEYSGSSEKID	3	distal
420N	LNEV[D/N]DEYSGSSEKID	3	distal
419G	LNE[V/G]VDEYSGSSEKID	4	distal
419L	LNE[V/L]VDEYSGSSEKID	4	distal
419I	LNE[V/I]VDEYSGSSEKID	4	distal
418A	LN[E/A]EVDEYSGSSEKID	5	distal
417K	L[N/K]NEVDEYSGSSEKID	6	distal
417S	L[N/S]NEVDEYSGSSEKID	6	distal
418D	LN[E/D]EVDEYSGSSEKID	5	distal

PTM Site: 425S

Affected site:

Position: 425

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
431I	EVDEYSGSSEKID[L/I]LL	6	distal
430G	EVDEYSGSSEKI[D/G]DLL	5	distal
429R	EVDEYSGSSEK[I/R]IDLL	4	distal
429T	EVDEYSGSSEK[I/T]IDLL	4	distal
424R	EVDEYS[G/R]GSSEKIDLL	1	proximal
424S	EVDEYS[G/S]GSSEKIDLL	1	proximal
422F	EVDE[Y/F]YSGSSEKIDLL	3	distal
422C	EVDE[Y/C]YSGSSEKIDLL	3	distal
422H	EVDE[Y/H]YSGSSEKIDLL	3	distal
421G	EVD[E/G]EYSGSSEKIDLL	4	distal
421K	EVD[E/K]EYSGSSEKIDLL	4	distal
420G	EV[D/G]DEYSGSSEKIDLL	5	distal
420Y	EV[D/Y]DEYSGSSEKIDLL	5	distal
420H	EV[D/H]DEYSGSSEKIDLL	5	distal
420N	EV[D/N]DEYSGSSEKIDLL	5	distal
419G	E[V/G]VDEYSGSSEKIDLL	6	distal
419L	E[V/L]VDEYSGSSEKIDLL	6	distal
419I	E[V/I]VDEYSGSSEKIDLL	6	distal

PTM Site: 426S

Affected site:

Position: 426

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
432P	VDEYSGSSEKIDL[L/P]LA	6	distal
432M	VDEYSGSSEKIDL[L/M]LA	6	distal
431I	VDEYSGSSEKID[L/I]LLA	5	distal
430G	VDEYSGSSEKI[D/G]DLLA	4	distal
429R	VDEYSGSSEK[I/R]IDLLA	3	distal
429T	VDEYSGSSEK[I/T]IDLLA	3	distal
424R	VDEYS[G/R]GSSEKIDLLA	2	network-rewiring
424S	VDEYS[G/S]GSSEKIDLLA	2	proximal
422F	VDE[Y/F]YSGSSEKIDLLA	4	distal
422C	VDE[Y/C]YSGSSEKIDLLA	4	distal
422H	VDE[Y/H]YSGSSEKIDLLA	4	distal
421G	VD[E/G]EYSGSSEKIDLLA	5	distal
421K	VD[E/K]EYSGSSEKIDLLA	5	distal
420G	V[D/G]DEYSGSSEKIDLLA	6	distal
420Y	V[D/Y]DEYSGSSEKIDLLA	6	distal
420H	V[D/H]DEYSGSSEKIDLLA	6	distal
420N	V[D/N]DEYSGSSEKIDLLA	6	distal

PTM Site: 428K

Affected site:

Position: 428

Residue: K

Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
434N	EYSGSSEKIDLLA[S/N]SD	6	distal
434G	EYSGSSEKIDLLA[S/G]SD	6	distal
434R	EYSGSSEKIDLLA[S/R]SD	6	distal
432P	EYSGSSEKIDL[L/P]LASD	4	distal
432M	EYSGSSEKIDL[L/M]LASD	4	distal
431I	EYSGSSEKID[L/I]LLASD	3	distal
430G	EYSGSSEKI[D/G]DLLASD	2	proximal
429R	EYSGSSEK[I/R]IDLLASD	1	proximal
429T	EYSGSSEK[I/T]IDLLASD	1	proximal
424R	EYS[G/R]GSSEKIDLLASD	4	distal
424S	EYS[G/S]GSSEKIDLLASD	4	distal
422F	E[Y/F]YSGSSEKIDLLASD	6	distal
422C	E[Y/C]YSGSSEKIDLLASD	6	distal
422H	E[Y/H]YSGSSEKIDLLASD	6	distal

External references

dbSNP:

rs80357046

If you have any questions or feedback about this mutation: