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You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020
Mutation:

GRIN2A S912C

Summary

Isoform:
NM_001134408
Position:
912
Ref:
S
Mutation:
C
PTM impact:
direct
PTM affected:
6
Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Epilepsy, focal, with speech disorder and with or without mental retardation

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

[0.0199681]

PTM Site: 905S

Affected site:

Position: 905
Residue: S
Type: phosphorylation

Impact:

distal

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:

distal

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

PTM Site: 912S

Affected site:

Position: 912
Residue: S
Type: phosphorylation

Impact:

direct

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:

proximal

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

Impact:

distal

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:
rs200588845

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