Cosmic » Mutation » Overview » RGS4 »p.E135K / c.403G>A

This tab shows an overview of the mutation data [more details]
Gene Name:
RGS4
Mutation Id:
COSM140967
AA Mutation:
p.E135K ( Substitution - Missense )
CDS Mutation:
c.403G>A ( Substitution )
GRCh37:
Ensembl Contig View 1:163044130..163044140
Cancer Genome Browser:
COSMIC GBrowse 1:163044130..163044140
CDD:
NP_005604.1
Ever confirmed somatic:
Yes
This tab displays the distribution of mutated samples and tissue types. [more details]
This tab displays a table of muated samples, with tissue, histology and zygosity information. Publication information is also included, where available, with links to PUBMED. [more details]
Sample name Gene name Transcript Primary Tissue Histology Pubmed ID Zygosity Somatic Status
This tab displays a table of protein features [more details]
View Identifier Source Feature Start End Status Score
A7XA58 UniProt:curator Regulator of G-protein signaling 4 1 205 Overlap 100.00
RGS4 MCKGLAGLPASCLRSAKDMKHRLGFLLQKSDSCEHNSSHNKKDKVVICQRVSQEEVKKWA 60 A7XA58 MCKGLAGLPASCLRSAKDMKHRLGFLLQKSDSCEHNSSHNKKDKVVICQRVSQEEVKKWA 60 RGS4 ESLENLISHECGLAAFKAFLKSEYSEENIDFWISCEEYKKIKSPSKLSPKAKKIYNEFIS 120 A7XA58 ESLENLISHECGLAAFKAFLKSEYSEENIDFWISCEEYKKIKSPSKLSPKAKKIYNEFIS 120 RGS4 VQATKEVNLDSCTREETSRNMLEPTITCFDEAQKKIFNLMEKDSYRRFLKSRFYLDLVNP 180 A7XA58 VQATKEVNLDSCTREETSRNMLEPTITCFDEAQKKIFNLMEKDSYRRFLKSRFYLDLVNP 180 RGS4 SSCGAEKQKGAKSSADCASLVPQCA A7XA58 SSCGAEKQKGAKSSADCASLVPQCA

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Wildtype Residue : E Mutant Position : 135 Mutant label : p.E135K Feature Name :Regulator of G-protein signaling 4( 1- 205 )
A7XA58 UniProt:curator RGS 62 178 Overlap 100.00
RGS4 MCKGLAGLPASCLRSAKDMKHRLGFLLQKSDSCEHNSSHNKKDKVVICQRVSQEEVKKWA 60 A7XA58 MCKGLAGLPASCLRSAKDMKHRLGFLLQKSDSCEHNSSHNKKDKVVICQRVSQEEVKKWA 60 RGS4 ESLENLISHECGLAAFKAFLKSEYSEENIDFWISCEEYKKIKSPSKLSPKAKKIYNEFIS 120 A7XA58 ESLENLISHECGLAAFKAFLKSEYSEENIDFWISCEEYKKIKSPSKLSPKAKKIYNEFIS 120 RGS4 VQATKEVNLDSCTREETSRNMLEPTITCFDEAQKKIFNLMEKDSYRRFLKSRFYLDLVNP 180 A7XA58 VQATKEVNLDSCTREETSRNMLEPTITCFDEAQKKIFNLMEKDSYRRFLKSRFYLDLVNP 180 RGS4 SSCGAEKQKGAKSSADCASLVPQCA A7XA58 SSCGAEKQKGAKSSADCASLVPQCA

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Wildtype Residue : E Mutant Position : 135 Mutant label : p.E135K Feature Name :RGS( 62- 178 )
A7XA58 UniProt:curator UNIPROTKB_P49798_VAR_SEQ_72_205 72 205 Overlap 100.00
RGS4 MCKGLAGLPASCLRSAKDMKHRLGFLLQKSDSCEHNSSHNKKDKVVICQRVSQEEVKKWA 60 A7XA58 MCKGLAGLPASCLRSAKDMKHRLGFLLQKSDSCEHNSSHNKKDKVVICQRVSQEEVKKWA 60 RGS4 ESLENLISHECGLAAFKAFLKSEYSEENIDFWISCEEYKKIKSPSKLSPKAKKIYNEFIS 120 A7XA58 ESLENLISHECGLAAFKAFLKSEYSEENIDFWISCEEYKKIKSPSKLSPKAKKIYNEFIS 120 RGS4 VQATKEVNLDSCTREETSRNMLEPTITCFDEAQKKIFNLMEKDSYRRFLKSRFYLDLVNP 180 A7XA58 VQATKEVNLDSCTREETSRNMLEPTITCFDEAQKKIFNLMEKDSYRRFLKSRFYLDLVNP 180 RGS4 SSCGAEKQKGAKSSADCASLVPQCA A7XA58 SSCGAEKQKGAKSSADCASLVPQCA

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Wildtype Residue : E Mutant Position : 135 Mutant label : p.E135K Feature Name :UNIPROTKB_P49798_VAR_SEQ_72_205( 72- 205 )
This tab displays a table of pathways affected by the mutation [more details]
SourcePathways
WikiPathwayMyometrial Relaxation and Contraction Pathways
WikiPathwayCalcium Regulation in the Cardiac Cell
This tab displays a table of references for the mutation [more details]
Reference Title Author Year Journal Status COSMIC Pubmed