ATM A78G

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Mutation:

Summary

Isoform:

NM_000051

Position:

Ref:

Mutation:

PTM impact:

proximal

PTM affected:

Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 72T

Affected site:

Position: 72

Residue: T

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
66E	Q[K/E]KYIQKETECLRIAK	6	distal
66N	Q[K/N]KYIQKETECLRIAK	6	distal
67C	QK[Y/C]YIQKETECLRIAK	5	distal
68V	QKY[I/V]IQKETECLRIAK	4	distal
68T	QKY[I/T]IQKETECLRIAK	4	distal
68M	QKY[I/M]IQKETECLRIAK	4	distal
69K	QKYI[Q/K]QKETECLRIAK	3	distal
69P	QKYI[Q/P]QKETECLRIAK	3	distal
70N	QKYIQ[K/N]KETECLRIAK	2	proximal
72A	QKYIQKE[T/A]TECLRIAK	0	direct
72R	QKYIQKE[T/R]TECLRIAK	0	direct
72I	QKYIQKE[T/I]TECLRIAK	0	direct
73K	QKYIQKET[E/K]ECLRIAK	1	proximal
74S	QKYIQKETE[C/S]CLRIAK	2	proximal
74Y	QKYIQKETE[C/Y]CLRIAK	2	proximal
76K	QKYIQKETECL[R/K]RIAK	4	distal
76S	QKYIQKETECL[R/S]RIAK	4	distal
77V	QKYIQKETECLR[I/V]IAK	5	distal
78T	QKYIQKETECLRI[A/T]AK	6	distal
78G	QKYIQKETECLRI[A/G]AK	6	distal

PTM Site: 79K

Affected site:

Position: 79

Residue: K

Type: ubiquitination

Impact:

proximal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
73K	T[E/K]ECLRIAKPNVSAST	6	distal
74S	TE[C/S]CLRIAKPNVSAST	5	distal
74Y	TE[C/Y]CLRIAKPNVSAST	5	distal
76K	TECL[R/K]RIAKPNVSAST	3	distal
76S	TECL[R/S]RIAKPNVSAST	3	distal
77V	TECLR[I/V]IAKPNVSAST	2	proximal
78T	TECLRI[A/T]AKPNVSAST	1	proximal
78G	TECLRI[A/G]AKPNVSAST	1	proximal
79R	TECLRIA[K/R]KPNVSAST	0	direct
80S	TECLRIAK[P/S]PNVSAST	1	proximal
80L	TECLRIAK[P/L]PNVSAST	1	proximal
81D	TECLRIAKP[N/D]NVSAST	2	proximal
82I	TECLRIAKPN[V/I]VSAST	3	distal
84S	TECLRIAKPNVS[A/S]AST	5	distal
84V	TECLRIAKPNVS[A/V]AST	5	distal

PTM Site: 83S

Affected site:

Position: 83

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
77V	R[I/V]IAKPNVSASTQASR	6	distal
78T	RI[A/T]AKPNVSASTQASR	5	distal
78G	RI[A/G]AKPNVSASTQASR	5	distal
79R	RIA[K/R]KPNVSASTQASR	4	distal
80S	RIAK[P/S]PNVSASTQASR	3	distal
80L	RIAK[P/L]PNVSASTQASR	3	distal
81D	RIAKP[N/D]NVSASTQASR	2	proximal
82I	RIAKPN[V/I]VSASTQASR	1	proximal
84S	RIAKPNVS[A/S]ASTQASR	1	proximal
84V	RIAKPNVS[A/V]ASTQASR	1	proximal
86A	RIAKPNVSAS[T/A]TQASR	3	distal
86I	RIAKPNVSAS[T/I]TQASR	3	distal
88S	RIAKPNVSASTQ[A/S]ASR	5	distal
88D	RIAKPNVSASTQ[A/D]ASR	5	distal
89F	RIAKPNVSASTQA[S/F]SR	6	distal

PTM Site: 85S

Affected site:

Position: 85

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
79R	A[K/R]KPNVSASTQASRQK	6	distal
80S	AK[P/S]PNVSASTQASRQK	5	distal
80L	AK[P/L]PNVSASTQASRQK	5	distal
81D	AKP[N/D]NVSASTQASRQK	4	distal
82I	AKPN[V/I]VSASTQASRQK	3	distal
84S	AKPNVS[A/S]ASTQASRQK	1	proximal
84V	AKPNVS[A/V]ASTQASRQK	1	proximal
86A	AKPNVSAS[T/A]TQASRQK	1	proximal
86I	AKPNVSAS[T/I]TQASRQK	1	proximal
88S	AKPNVSASTQ[A/S]ASRQK	3	distal
88D	AKPNVSASTQ[A/D]ASRQK	3	distal
89F	AKPNVSASTQA[S/F]SRQK	4	distal
90G	AKPNVSASTQAS[R/G]RQK	5	distal
90S	AKPNVSASTQAS[R/S]RQK	5	distal

External references

dbSNP:

rs876659669

If you have any questions or feedback about this mutation: