BLM S320T

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Mutation:

Summary

Isoform:

NM_001287246

Position:

320

Ref:

Mutation:

PTM impact:

distal

PTM affected:

Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Hereditary cancer-predisposing syndrome, Bloom syndrome

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 317K

Affected site:

Position: 317

Residue: K

Type: sumoylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
311S	S[A/S]ASSSSSKCLSTLKD	6	distal
312T	SA[S/T]SSSSSKCLSTLKD	5	distal
312A	SA[S/A]SSSSSKCLSTLKD	5	distal
315F	SASSS[S/F]SSKCLSTLKD	2	proximal
318W	SASSSSSK[C/W]CLSTLKD	1	proximal
319F	SASSSSSKC[L/F]LSTLKD	2	proximal
320T	SASSSSSKCL[S/T]STLKD	3	distal
323R	SASSSSSKCLSTL[K/R]KD	6	distal

PTM Site: 323K

Affected site:

Position: 323

Residue: K

Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
318W	SK[C/W]CLSTLKDLDTSDR	5	distal
319F	SKC[L/F]LSTLKDLDTSDR	4	distal
320T	SKCL[S/T]STLKDLDTSDR	3	distal
323R	SKCLSTL[K/R]KDLDTSDR	0	direct
327S	SKCLSTLKDLD[T/S]TSDR	4	distal
329H	SKCLSTLKDLDTS[D/H]DR	6	distal
328C	SKCLSTLKDLDT[S/C]SDR	5	distal

PTM Site: 327T

Affected site:

Position: 327

Residue: T

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
323R	STL[K/R]KDLDTSDRKEDV	4	distal
327S	STLKDLD[T/S]TSDRKEDV	0	direct
329H	STLKDLDTS[D/H]DRKEDV	2	proximal
331E	STLKDLDTSDR[K/E]KEDV	4	distal
331T	STLKDLDTSDR[K/T]KEDV	4	distal
332Q	STLKDLDTSDRK[E/Q]EDV	5	distal
328C	STLKDLDT[S/C]SDRKEDV	1	proximal

External references

dbSNP:

rs757112333

If you have any questions or feedback about this mutation: