BRCA1 K223R

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Mutation:

Summary

Isoform:

NM_007298

Position:

223

Ref:

Mutation:

PTM impact:

direct

PTM affected:

Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Familial cancer of breast

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 220S

Affected site:

Position: 220

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

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Mutation	In sequence	Distance	Impact
220C	RDEISLD[S/C]SAKKAACE	0	direct
221V	RDEISLDS[A/V]AKKAACE	1	proximal
221S	RDEISLDS[A/S]AKKAACE	1	proximal
219H	RDEISL[D/H]DSAKKAACE	1	proximal
219N	RDEISL[D/N]DSAKKAACE	1	proximal

Showing 1 to 5 of 21 rows

PTM Site: 223K

Affected site:

Position: 223

Residue: K

Type: ubiquitination

Impact:

direct

Other known mutations affecting this site

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Mutation	In sequence	Distance	Impact
223R	ISLDSAK[K/R]KAACEFSE	0	direct
223N	ISLDSAK[K/N]KAACEFSE	0	direct
223T	ISLDSAK[K/T]KAACEFSE	0	direct
224V	ISLDSAKK[A/V]AACEFSE	1	proximal
224T	ISLDSAKK[A/T]AACEFSE	1	proximal

Showing 1 to 5 of 18 rows

External references

dbSNP:

rs397509306

If you have any questions or feedback about this mutation: