GRIN2A I904F

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Mutation:

Summary

Isoform:

NM_001134408

Position:

904

Ref:

Mutation:

PTM impact:

proximal

PTM affected:

Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Rolandic epilepsy, Seizures

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 900S

Affected site:

Position: 900

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
904F	NMLKLLRSAKN[I/F]ISSM	4	distal
899W	NMLKLL[R/W]RSAKNISSM	1	proximal
896E	NML[K/E]KLLRSAKNISSM	4	distal
905F	NMLKLLRSAKNI[S/F]SSM	5	distal

PTM Site: 905S

Affected site:

Position: 905

Residue: S

Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
904F	LRSAKN[I/F]ISSMSNMNS	1	proximal
899W	L[R/W]RSAKNISSMSNMNS	6	distal
905F	LRSAKNI[S/F]SSMSNMNS	0	direct
910I	LRSAKNISSMSN[M/I]MNS	5	distal

PTM Site: 906S

Affected site:

Position: 906

Residue: S

Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
912C	RSAKNISSMSNMN[S/C]SS	6	distal
904F	RSAKN[I/F]ISSMSNMNSS	2	proximal
905F	RSAKNI[S/F]SSMSNMNSS	1	proximal
910I	RSAKNISSMSN[M/I]MNSS	4	distal

PTM Site: 908S

Affected site:

Position: 908

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
912C	AKNISSMSNMN[S/C]SSRM	4	distal
904F	AKN[I/F]ISSMSNMNSSRM	4	distal
905F	AKNI[S/F]SSMSNMNSSRM	3	distal
910I	AKNISSMSN[M/I]MNSSRM	2	proximal

External references

dbSNP:

rs1555482933

If you have any questions or feedback about this mutation: