DMTN R84H

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Mutation:

Summary

Isoform:

NM_001114136

Position:

Ref:

Mutation:

PTM impact:

proximal

PTM affected:

Kinases:

MAPK1

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

no data

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

[0.0399361]

PTM Site: 81S

Affected site:

Position: 81

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
82H	EHVELPRS[R/H]RERSLSP	1	proximal
83Q	EHVELPRSR[E/Q]ERSLSP	2	proximal
76M	EH[V/M]VELPRSRERSLSP	5	distal
84H	EHVELPRSRE[R/H]RSLSP	3	distal
85L	EHVELPRSRER[S/L]SLSP	4	network-rewiring
80C	EHVELP[R/C]RSRERSLSP	1	proximal

PTM Site: 85S

Affected site:

Position: 85

Residue: S

Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
82H	LPRS[R/H]RERSLSPKSTS	3	distal
83Q	LPRSR[E/Q]ERSLSPKSTS	2	proximal
84H	LPRSRE[R/H]RSLSPKSTS	1	proximal
85L	LPRSRER[S/L]SLSPKSTS	0	direct
80C	LP[R/C]RSRERSLSPKSTS	5	distal

PTM Site: 90S

Affected site:

Position: 90

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
92F	ERSLSPKST[S/F]SPPPSP	2	proximal
84H	E[R/H]RSLSPKSTSPPPSP	6	distal
94Q	ERSLSPKSTSP[P/Q]PPSP	4	distal
92P	ERSLSPKST[S/P]SPPPSP	2	proximal
85L	ER[S/L]SLSPKSTSPPPSP	5	distal

PTM Site: 91T

Affected site:

Position: 91

Residue: T

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
92F	RSLSPKST[S/F]SPPPSPE	1	network-rewiring
94Q	RSLSPKSTSP[P/Q]PPSPE	3	distal
92P	RSLSPKST[S/P]SPPPSPE	1	network-rewiring
85L	R[S/L]SLSPKSTSPPPSPE	6	distal

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