BLM A363V

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Mutation:

Summary

Isoform:

NM_001287246

Position:

363

Ref:

Mutation:

PTM impact:

distal

PTM affected:

Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Bloom syndrome

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 358S

Affected site:

Position: 358

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
352K	Q[E/K]ELNPETSTDCDARQ	6	distal
353V	QE[L/V]LNPETSTDCDARQ	5	distal
355R	QELN[P/R]PETSTDCDARQ	3	network-rewiring
355L	QELN[P/L]PETSTDCDARQ	3	distal
363T	QELNPETSTDCD[A/T]ARQ	5	distal
363V	QELNPETSTDCD[A/V]ARQ	5	distal
364K	QELNPETSTDCDA[R/K]RQ	6	distal

PTM Site: 359T

Affected site:

Position: 359

Residue: T

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
353V	E[L/V]LNPETSTDCDARQI	6	distal
355R	ELN[P/R]PETSTDCDARQI	4	distal
355L	ELN[P/L]PETSTDCDARQI	4	distal
363T	ELNPETSTDCD[A/T]ARQI	4	distal
363V	ELNPETSTDCD[A/V]ARQI	4	distal
364K	ELNPETSTDCDA[R/K]RQI	5	distal

PTM Site: 367S

Affected site:

Position: 367

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
363T	DCD[A/T]ARQISLQQQLIH	4	distal
363V	DCD[A/V]ARQISLQQQLIH	4	distal
364K	DCDA[R/K]RQISLQQQLIH	3	network-rewiring
366L	DCDARQ[I/L]ISLQQQLIH	1	proximal
366T	DCDARQ[I/T]ISLQQQLIH	1	proximal
367N	DCDARQI[S/N]SLQQQLIH	0	direct
369H	DCDARQISL[Q/H]QQQLIH	2	proximal
373V	DCDARQISLQQQL[I/V]IH	6	distal
373N	DCDARQISLQQQL[I/N]IH	6	distal

External references

dbSNP:

rs1567040460

If you have any questions or feedback about this mutation: