GRIN2A P918S

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Mutation:

Summary

Isoform:

NM_001134408

Position:

918

Ref:

Mutation:

PTM impact:

network-rewiring

PTM affected:

Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

History of neurodevelopmental disorder

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 912S

Affected site:

Position: 912

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
918S	SSMSNMNSSRMDS[P/S]PK	6	distal
917A	SSMSNMNSSRMD[S/A]SPK	5	distal
915T	SSMSNMNSSR[M/T]MDSPK	3	distal
912C	SSMSNMN[S/C]SSRMDSPK	0	direct
910I	SSMSN[M/I]MNSSRMDSPK	2	proximal

PTM Site: 913S

Affected site:

Position: 913

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
918S	SMSNMNSSRMDS[P/S]PKR	5	distal
917A	SMSNMNSSRMD[S/A]SPKR	4	distal
915T	SMSNMNSSR[M/T]MDSPKR	2	proximal
912C	SMSNMN[S/C]SSRMDSPKR	1	proximal
910I	SMSN[M/I]MNSSRMDSPKR	3	distal

PTM Site: 917S

Affected site:

Position: 917

Residue: S

Type: phosphorylation

Best loss of PTM site:

GSK3B (probability p=0.937)

Site: 917S (phosphorylation)

Position in motif: 1

There are 6 other predicted losses:

MAPK11 (p=0.937)
CDK1 (p=0.933)
CDK5 (p=0.931)
MAPK1 (p=0.857)
MAPK3 (p=0.854)
CDK7 (p=0.852)

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
922V	MNSSRMDSPKRA[A/V]ADF	5	distal
918S	MNSSRMDS[P/S]PKRAADF	1	network-rewiring
917A	MNSSRMD[S/A]SPKRAADF	0	direct
915T	MNSSR[M/T]MDSPKRAADF	2	proximal
912C	MN[S/C]SSRMDSPKRAADF	5	distal
920S	MNSSRMDSPK[R/S]RAADF	3	distal

External references

dbSNP:

rs778940856

If you have any questions or feedback about this mutation: