CLCN2 G710R

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Mutation:

Summary

Isoform:

NM_001171089

Position:

710

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)

no data

Minor Allele Frequency: (ESP6500)

[0.0077]

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 704S

Affected site:

Position: 704

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
710R	PALKRGPSVTRNL[G/R]GE	6	distal
701W	PALK[R/W]RGPSVTRNLGE	3	distal
699F	PA[L/F]LKRGPSVTRNLGE	5	distal

PTM Site: 712S

Affected site:

Position: 712

Residue: S

Type: phosphorylation

Best gain of PTM site:

PRKACA (probability p=0.966)

Site: 712S (phosphorylation)

Position in motif: -2

There are 2 other predicted gains:

PRKCD (p=0.934)
AURKB (p=0.876)

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
718D	VTRNLGESPTGSA[E/D]ES	6	distal
715E	VTRNLGESPT[G/E]GSAES	3	network-rewiring
714I	VTRNLGESP[T/I]TGSAES	2	proximal
710R	VTRNL[G/R]GESPTGSAES	2	network-rewiring
713L	VTRNLGES[P/L]PTGSAES	1	network-rewiring
718K	VTRNLGESPTGSA[E/K]ES	6	distal

PTM Site: 716S

Affected site:

Position: 716

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
718D	LGESPTGSA[E/D]ESAGIA	2	proximal
715E	LGESPT[G/E]GSAESAGIA	1	proximal
719L	LGESPTGSAE[S/L]SAGIA	3	distal
714I	LGESP[T/I]TGSAESAGIA	2	proximal
710R	L[G/R]GESPTGSAESAGIA	6	distal
713L	LGES[P/L]PTGSAESAGIA	3	distal
718K	LGESPTGSA[E/K]ESAGIA	2	network-rewiring

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