BLM L60I

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Mutation:

Summary

Isoform:

NM_001287246

Position:

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 breast and ovarian cancer syndrome, Bloom syndrome, Microcephaly, Hereditary cancer-predisposing syndrome

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

[0.0798722]

PTM Site: 53S

Affected site:

Position: 53

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
48T	NV[S/T]SVTNVSVAKTPVL	5	distal
49I	NVS[V/I]VTNVSVAKTPVL	4	distal
49A	NVS[V/A]VTNVSVAKTPVL	4	distal
53T	NVSVTNV[S/T]SVAKTPVL	0	direct
55V	NVSVTNVSV[A/V]AKTPVL	2	proximal
58T	NVSVTNVSVAKT[P/T]PVL	5	distal
58S	NVSVTNVSVAKT[P/S]PVL	5	distal

PTM Site: 56K

Affected site:

Position: 56

Residue: K

Type: sumoylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
53T	VTNV[S/T]SVAKTPVLRNK	3	distal
55V	VTNVSV[A/V]AKTPVLRNK	1	proximal
58T	VTNVSVAKT[P/T]PVLRNK	2	proximal
58S	VTNVSVAKT[P/S]PVLRNK	2	proximal
60I	VTNVSVAKTPV[L/I]LRNK	4	distal
61I	VTNVSVAKTPVL[R/I]RNK	5	distal
62K	VTNVSVAKTPVLR[N/K]NK	6	distal
61K	VTNVSVAKTPVL[R/K]RNK	5	distal

PTM Site: 57T

Affected site:

Position: 57

Residue: T

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
53T	TNV[S/T]SVAKTPVLRNKD	4	distal
55V	TNVSV[A/V]AKTPVLRNKD	2	proximal
58T	TNVSVAKT[P/T]PVLRNKD	1	network-rewiring
58S	TNVSVAKT[P/S]PVLRNKD	1	network-rewiring
60I	TNVSVAKTPV[L/I]LRNKD	3	distal
61I	TNVSVAKTPVL[R/I]RNKD	4	distal
62K	TNVSVAKTPVLR[N/K]NKD	5	distal
61K	TNVSVAKTPVL[R/K]RNKD	4	distal

External references

dbSNP:

rs138542210

If you have any questions or feedback about this mutation: