Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 6 transcript(s)...
Querying Taster for transcript #1: ENST00000455089
Querying Taster for transcript #2: ENST00000342916
Querying Taster for transcript #3: ENST00000344576
Querying Taster for transcript #4: ENST00000275493
Querying Taster for transcript #5: ENST00000442591
Querying Taster for transcript #6: ENST00000454757
MT speed 0 s - this script 5.877031 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
EGFRpolymorphism_automatic3.37951888695898e-13simple_aaeaffectedR476Ksingle base exchangers2227983show file
EGFRpolymorphism_automatic3.37951888695898e-13simple_aaeaffectedR468Ksingle base exchangers2227983show file
EGFRpolymorphism_automatic2.05802042074765e-12simple_aaeaffectedR521Ksingle base exchangers2227983show file
EGFRpolymorphism_automatic2.05802042074765e-12simple_aaeaffectedR521Ksingle base exchangers2227983show file
EGFRpolymorphism_automatic2.05802042074765e-12simple_aaeaffectedR521Ksingle base exchangers2227983show file
EGFRpolymorphism_automatic2.05802042074765e-12simple_aaeaffectedR521Ksingle base exchangers2227983show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999662 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM942312)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:55229255G>AN/A show variant in all transcripts   IGV
HGNC symbol EGFR
Ensembl transcript ID ENST00000455089
Genbank transcript ID N/A
UniProt peptide P00533
alteration type single base exchange
alteration region CDS
DNA changes c.1427G>A
cDNA.1684G>A
g.142542G>A
AA changes R476K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 476
frameshift no
known variant Reference ID: rs2227983
databasehomozygous (A/A)heterozygousallele carriers
1000G2789071185
ExAC56072155327160

known disease mutation at this position, please check HGMD for details (HGMD ID CM942312)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2750
-1.1370
(flanking)-0.0530.011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained1425370.91mu: CCGGAGCCCAAGGAC GGAG|ccca
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      476CSPEGCWGPEPRDCVSCRNVSRGR
mutated  all conserved    476CSPEGCWGPEPKDCVS
Ptroglodytes  all identical  ENSPTRG00000019196  521CSPEGCWGPEPRDCVSCRNVSRG
Mmulatta  no alignment  ENSMMUG00000022394  n/a
Fcatus  all conserved  ENSFCAG00000015468  521CSSEGCWGPEPKDCVSCQNVTRG
Mmusculus  all identical  ENSMUSG00000020122  521CSSEGCWGPEPRDCVSCQNVSRG
Ggallus  not conserved  ENSGALG00000012363  493CSDVGCWGPGPFHCFSCRFFSRQ
Trubripes  not conserved  ENSTRUG00000011834  491CTAEGCWGSGPDMCFACSNYSRG
Drerio  not conserved  ENSDARG00000056909  525CGDEGCWGPGPSMCVFCQHVSRR
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
25645TOPO_DOMExtracellular (Potential).lost
390600REPEATApproximate.lost
472474HELIXmight get lost (downstream of altered splice site)
477480HELIXmight get lost (downstream of altered splice site)
481483STRANDmight get lost (downstream of altered splice site)
488494STRANDmight get lost (downstream of altered splice site)
496501HELIXmight get lost (downstream of altered splice site)
499499DISULFIDmight get lost (downstream of altered splice site)
506506DISULFIDmight get lost (downstream of altered splice site)
507509TURNmight get lost (downstream of altered splice site)
510510DISULFIDmight get lost (downstream of altered splice site)
515515DISULFIDmight get lost (downstream of altered splice site)
515519STRANDmight get lost (downstream of altered splice site)
520522HELIXmight get lost (downstream of altered splice site)
523523DISULFIDmight get lost (downstream of altered splice site)
523526STRANDmight get lost (downstream of altered splice site)
526526DISULFIDmight get lost (downstream of altered splice site)
528528CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
535535DISULFIDmight get lost (downstream of altered splice site)
535537STRANDmight get lost (downstream of altered splice site)
539539DISULFIDmight get lost (downstream of altered splice site)
540540CONFLICTN -> K (in Ref. 1; CAA25240).might get lost (downstream of altered splice site)
541546STRANDmight get lost (downstream of altered splice site)
548551STRANDmight get lost (downstream of altered splice site)
554557STRANDmight get lost (downstream of altered splice site)
555555DISULFIDmight get lost (downstream of altered splice site)
558558DISULFIDmight get lost (downstream of altered splice site)
562562DISULFIDmight get lost (downstream of altered splice site)
566568STRANDmight get lost (downstream of altered splice site)
568568CARBOHYDN-linked (GlcNAc...); partial.might get lost (downstream of altered splice site)
570575STRANDmight get lost (downstream of altered splice site)
571571DISULFIDmight get lost (downstream of altered splice site)
578587STRANDmight get lost (downstream of altered splice site)
579579DISULFIDmight get lost (downstream of altered splice site)
582582DISULFIDmight get lost (downstream of altered splice site)
587590MUTAGENDGPH->AGPA: Decreases intramolecular interactions and facilitates EGF binding.might get lost (downstream of altered splice site)
590594STRANDmight get lost (downstream of altered splice site)
591591DISULFIDmight get lost (downstream of altered splice site)
595595DISULFIDmight get lost (downstream of altered splice site)
597599STRANDmight get lost (downstream of altered splice site)
602604HELIXmight get lost (downstream of altered splice site)
603603CARBOHYDN-linked (GlcNAc...); partial.might get lost (downstream of altered splice site)
607611STRANDmight get lost (downstream of altered splice site)
609609MUTAGENK->A: Decreases intramolecular interactions and facilitates EGF binding.might get lost (downstream of altered splice site)
615619STRANDmight get lost (downstream of altered splice site)
617617DISULFIDmight get lost (downstream of altered splice site)
620620DISULFIDmight get lost (downstream of altered splice site)
624624DISULFIDmight get lost (downstream of altered splice site)
628628DISULFIDmight get lost (downstream of altered splice site)
629632STRANDmight get lost (downstream of altered splice site)
633635HELIXmight get lost (downstream of altered splice site)
636636DISULFIDmight get lost (downstream of altered splice site)
643646STRANDmight get lost (downstream of altered splice site)
646668TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
648669HELIXmight get lost (downstream of altered splice site)
6691210TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
671673STRANDmight get lost (downstream of altered splice site)
678678MOD_RESPhosphothreonine; by PKC and PKD/PRKD1.might get lost (downstream of altered splice site)
679684HELIXmight get lost (downstream of altered splice site)
685687HELIXmight get lost (downstream of altered splice site)
688688MUTAGENL->A: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
688692STRANDmight get lost (downstream of altered splice site)
688704REGIONImportant for dimerization, phosphorylation and activation.might get lost (downstream of altered splice site)
689689MUTAGENV->A: Reduced autophosphorylation.might get lost (downstream of altered splice site)
689689MUTAGENV->M: Constitutively activated kinase.might get lost (downstream of altered splice site)
690690MUTAGENE->A: Reduced phosphorylation.might get lost (downstream of altered splice site)
692692MUTAGENL->A,P: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
693693MUTAGENT->D: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
693693MOD_RESPhosphothreonine; by PKD/PRKD1.might get lost (downstream of altered splice site)
693693MUTAGENT->A: Increased phosphorylation.might get lost (downstream of altered splice site)
694694MUTAGENP->A: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
694697STRANDmight get lost (downstream of altered splice site)
695695MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
699699MUTAGENP->A: Reduced phosphorylation.might get lost (downstream of altered splice site)
700700MUTAGENN->A: Abolishes phosphorylation.might get lost (downstream of altered splice site)
703706STRANDmight get lost (downstream of altered splice site)
704704MUTAGENL->A: Abolishes phosphorylation.might get lost (downstream of altered splice site)
705705MUTAGENR->A: Abolishes phosphorylation.might get lost (downstream of altered splice site)
706706MUTAGENI->A: Abolishes phosphorylation.might get lost (downstream of altered splice site)
709711HELIXmight get lost (downstream of altered splice site)
712721STRANDmight get lost (downstream of altered splice site)
712979DOMAINProtein kinase.might get lost (downstream of altered splice site)
716716CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
718726NP_BINDATP.might get lost (downstream of altered splice site)
724731STRANDmight get lost (downstream of altered splice site)
725725MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
734736TURNmight get lost (downstream of altered splice site)
737737CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
740746STRANDmight get lost (downstream of altered splice site)
745745MUTAGENK->A,M: Abolishes kinase activity.might get lost (downstream of altered splice site)
745745BINDINGATP.might get lost (downstream of altered splice site)
748750STRANDmight get lost (downstream of altered splice site)
754754CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
756768HELIXmight get lost (downstream of altered splice site)
777791STRANDmight get lost (downstream of altered splice site)
790791NP_BINDATP.might get lost (downstream of altered splice site)
798804HELIXmight get lost (downstream of altered splice site)
805808TURNmight get lost (downstream of altered splice site)
811830HELIXmight get lost (downstream of altered splice site)
837837ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
840842HELIXmight get lost (downstream of altered splice site)
843847STRANDmight get lost (downstream of altered splice site)
850853STRANDmight get lost (downstream of altered splice site)
855855BINDINGATP.might get lost (downstream of altered splice site)
858862HELIXmight get lost (downstream of altered splice site)
863865TURNmight get lost (downstream of altered splice site)
867867CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
868870STRANDmight get lost (downstream of altered splice site)
869869MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
878880HELIXmight get lost (downstream of altered splice site)
883888HELIXmight get lost (downstream of altered splice site)
893908HELIXmight get lost (downstream of altered splice site)
909911TURNmight get lost (downstream of altered splice site)
914917TURNmight get lost (downstream of altered splice site)
920922HELIXmight get lost (downstream of altered splice site)
923928HELIXmight get lost (downstream of altered splice site)
929929CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
937939STRANDmight get lost (downstream of altered splice site)
941950HELIXmight get lost (downstream of altered splice site)
955957HELIXmight get lost (downstream of altered splice site)
961972HELIXmight get lost (downstream of altered splice site)
970970CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
974974MUTAGEND->A: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
975978HELIXmight get lost (downstream of altered splice site)
977977MUTAGENR->A: Reduced phosphorylation.might get lost (downstream of altered splice site)
978978MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
984986HELIXmight get lost (downstream of altered splice site)
991991MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
992994TURNmight get lost (downstream of altered splice site)
993993MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
995995MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
9961002HELIXmight get lost (downstream of altered splice site)
998998MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
10041006TURNmight get lost (downstream of altered splice site)
10051006MUTAGENED->RK: Constitutively activated kinase.might get lost (downstream of altered splice site)
10071009HELIXmight get lost (downstream of altered splice site)
10131016HELIXmight get lost (downstream of altered splice site)
10161016MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
10161016SITEImportant for interaction with PIK3C2B.might get lost (downstream of altered splice site)
10161016MUTAGENY->F: 50% decrease in interaction with PIK3C2B. 65% decrease in interaction with PIK3C2B; when associated with F-1197. Abolishes interaction with PIK3C2B; when associated with F-1197 and F-1092.might get lost (downstream of altered splice site)
10251025MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10251071COMPBIASSer-rich.might get lost (downstream of altered splice site)
10261026MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10371037MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10391039MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10411041MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
10421042MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10451045MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10641064MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10681070STRANDmight get lost (downstream of altered splice site)
10691069MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
10701070MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10711071MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10811081MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10921092MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
10921092MUTAGENY->F: No change in interaction with PIK3C2B. Abolishes interaction with PIK3C2B; when associated with F-1197 and F-1016.might get lost (downstream of altered splice site)
11101110MUTAGENY->F: No change in interaction with PIK3C2B.might get lost (downstream of altered splice site)
11101110MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
11381138MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
11661166MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11721172MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
11721172MUTAGENY->F: No change in interaction with PIK3C2B.might get lost (downstream of altered splice site)
11971197MUTAGENY->F: No change in interaction with PIK3C2B. 65% decrease in interaction with PIK3C2B; when associated with F-1016. Abolishes interaction with PIK3C2B; when associated with F-1092 and F-1016.might get lost (downstream of altered splice site)
11971197MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
11991199MOD_RESOmega-N-methylated arginine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3276 / 3276
position (AA) of stopcodon in wt / mu AA sequence 1092 / 1092
position of stopcodon in wt / mu cDNA 3533 / 3533
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 258 / 258
chromosome 7
strand 1
last intron/exon boundary 3285
theoretical NMD boundary in CDS 2977
length of CDS 3276
coding sequence (CDS) position 1427
cDNA position
(for ins/del: last normal base / first normal base)		 1684
gDNA position
(for ins/del: last normal base / first normal base)		 142542
chromosomal position
(for ins/del: last normal base / first normal base)		 55229255
original gDNA sequence snippet CTGCTGGGGCCCGGAGCCCAGGGACTGCGTCTCTTGCCGGA
altered gDNA sequence snippet CTGCTGGGGCCCGGAGCCCAAGGACTGCGTCTCTTGCCGGA
original cDNA sequence snippet CTGCTGGGGCCCGGAGCCCAGGGACTGCGTCTCTTGCCGGA
altered cDNA sequence snippet CTGCTGGGGCCCGGAGCCCAAGGACTGCGTCTCTTGCCGGA
wildtype AA sequence MRPSGTAGAA LLALLAALCP ASRALEEKKV CQGTSNKLTQ LGTFEDHFLS LQRMFNNCEV
VLGNLEITYV QRNYDLSFLK TIQEVAGYVL IALNTVERIP LENLQIIRGN MYYENSYALA
VLSNYDANKT GLKELPMRNL QGQKCDPSCP NGSCWGAGEE NCQKLTKIIC AQQCSGRCRG
KSPSDCCHNQ CAAGCTGPRE SDCLVCRKFR DEATCKDTCP PLMLYNPTTY QMDVNPEGKY
SFGATCVKKC PRNYVVTDHG SCVRACGADS YEMEEDGVRK CKKCEGPCRK VCNGIGIGEF
KDSLSINATN IKHFKNCTSI SGDLHILPVA FRGDSFTHTP PLDPQELDIL KTVKEITGFL
LIQAWPENRT DLHAFENLEI IRGRTKQHGQ FSLAVVSLNI TSLGLRSLKE ISDGDVIISG
NKNLCYANTI NWKKLFGTSG QKTKIISNRG ENSCKATGQV CHALCSPEGC WGPEPRDCVS
CRNVSRGREC VDKCNLLEGE PREFVENSEC IQCHPECLPQ AMNITCTGRG PDNCIQCAHY
IDGPHCVKTC PAGVMGENNT LVWKYADAGH VCHLCHPNCT YGCTGPGLEG CPTNGPKIPS
IATGMVGALL LLLVVALGIG LFMRRRHIVR KRTLRRLLQE RELVEPLTPS GEAPNQALLR
ILKETEFKKI KVLGSGAFGT VYKGLWIPEG EKVKIPVAIK ELREATSPKA NKEILDEAYV
MASVDNPHVC RLLGICLTST VQLITQLMPF GCLLDYVREH KDNIGSQYLL NWCVQIAKGM
NYLEDRRLVH RDLAARNVLV KTPQHVKITD FGLAKLLGAE EKEYHAEGGK VPIKWMALES
ILHRIYTHQS DVWSYGVTVW ELMTFGSKPY DGIPASEISS ILEKGERLPQ PPICTIDVYM
IMVKCWMIDA DSRPKFRELI IEFSKMARDP QRYLVIQGDE RMHLPSPTDS NFYRALMDEE
DMDDVVDADE YLIPQQGFFS SPSTSRTPLL SSLSATSNNS TVACIDRNGL QSCPIKEDSF
LQRYSSDPTG ALTEDSIDDT FLPVPGEWLV WKQSCSSTSS THSAAASLQC PSQVLPPASP
EGETVADLQT Q*
mutated AA sequence MRPSGTAGAA LLALLAALCP ASRALEEKKV CQGTSNKLTQ LGTFEDHFLS LQRMFNNCEV
VLGNLEITYV QRNYDLSFLK TIQEVAGYVL IALNTVERIP LENLQIIRGN MYYENSYALA
VLSNYDANKT GLKELPMRNL QGQKCDPSCP NGSCWGAGEE NCQKLTKIIC AQQCSGRCRG
KSPSDCCHNQ CAAGCTGPRE SDCLVCRKFR DEATCKDTCP PLMLYNPTTY QMDVNPEGKY
SFGATCVKKC PRNYVVTDHG SCVRACGADS YEMEEDGVRK CKKCEGPCRK VCNGIGIGEF
KDSLSINATN IKHFKNCTSI SGDLHILPVA FRGDSFTHTP PLDPQELDIL KTVKEITGFL
LIQAWPENRT DLHAFENLEI IRGRTKQHGQ FSLAVVSLNI TSLGLRSLKE ISDGDVIISG
NKNLCYANTI NWKKLFGTSG QKTKIISNRG ENSCKATGQV CHALCSPEGC WGPEPKDCVS
CRNVSRGREC VDKCNLLEGE PREFVENSEC IQCHPECLPQ AMNITCTGRG PDNCIQCAHY
IDGPHCVKTC PAGVMGENNT LVWKYADAGH VCHLCHPNCT YGCTGPGLEG CPTNGPKIPS
IATGMVGALL LLLVVALGIG LFMRRRHIVR KRTLRRLLQE RELVEPLTPS GEAPNQALLR
ILKETEFKKI KVLGSGAFGT VYKGLWIPEG EKVKIPVAIK ELREATSPKA NKEILDEAYV
MASVDNPHVC RLLGICLTST VQLITQLMPF GCLLDYVREH KDNIGSQYLL NWCVQIAKGM
NYLEDRRLVH RDLAARNVLV KTPQHVKITD FGLAKLLGAE EKEYHAEGGK VPIKWMALES
ILHRIYTHQS DVWSYGVTVW ELMTFGSKPY DGIPASEISS ILEKGERLPQ PPICTIDVYM
IMVKCWMIDA DSRPKFRELI IEFSKMARDP QRYLVIQGDE RMHLPSPTDS NFYRALMDEE
DMDDVVDADE YLIPQQGFFS SPSTSRTPLL SSLSATSNNS TVACIDRNGL QSCPIKEDSF
LQRYSSDPTG ALTEDSIDDT FLPVPGEWLV WKQSCSSTSS THSAAASLQC PSQVLPPASP
EGETVADLQT Q*
speed 1.22 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999662 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM942312)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:55229255G>AN/A show variant in all transcripts   IGV
HGNC symbol EGFR
Ensembl transcript ID ENST00000454757
Genbank transcript ID N/A
UniProt peptide P00533
alteration type single base exchange
alteration region CDS
DNA changes c.1403G>A
cDNA.1586G>A
g.142542G>A
AA changes R468K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 468
frameshift no
known variant Reference ID: rs2227983
databasehomozygous (A/A)heterozygousallele carriers
1000G2789071185
ExAC56072155327160

known disease mutation at this position, please check HGMD for details (HGMD ID CM942312)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2750
-1.1370
(flanking)-0.0530.011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained1425370.91mu: CCGGAGCCCAAGGAC GGAG|ccca
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      468CSPEGCWGPEPRDCVSCRNVSRGR
mutated  all conserved    468CSPEGCWGPEPKDCVSCRNVSRG
Ptroglodytes  all identical  ENSPTRG00000019196  521CSPEGCWGPEPRDCVSCRNVSRG
Mmulatta  no alignment  ENSMMUG00000022394  n/a
Fcatus  all conserved  ENSFCAG00000015468  521CSSEGCWGPEPKDCVSCQNVTRG
Mmusculus  all identical  ENSMUSG00000020122  521CSSEGCWGPEPRDCVSCQNVSRG
Ggallus  not conserved  ENSGALG00000012363  493CSDVGCWGPGPFHCFSCRFFSRQ
Trubripes  not conserved  ENSTRUG00000011834  491CTAEGCWGSGPDMCFACSNYSRG
Drerio  not conserved  ENSDARG00000056909  525CGDEGCWGPGPSMCVFCQ
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
25645TOPO_DOMExtracellular (Potential).lost
390600REPEATApproximate.lost
470470DISULFIDmight get lost (downstream of altered splice site)
472474HELIXmight get lost (downstream of altered splice site)
477480HELIXmight get lost (downstream of altered splice site)
481483STRANDmight get lost (downstream of altered splice site)
488494STRANDmight get lost (downstream of altered splice site)
496501HELIXmight get lost (downstream of altered splice site)
499499DISULFIDmight get lost (downstream of altered splice site)
506506DISULFIDmight get lost (downstream of altered splice site)
507509TURNmight get lost (downstream of altered splice site)
510510DISULFIDmight get lost (downstream of altered splice site)
515515DISULFIDmight get lost (downstream of altered splice site)
515519STRANDmight get lost (downstream of altered splice site)
520522HELIXmight get lost (downstream of altered splice site)
523523DISULFIDmight get lost (downstream of altered splice site)
523526STRANDmight get lost (downstream of altered splice site)
526526DISULFIDmight get lost (downstream of altered splice site)
528528CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
535535DISULFIDmight get lost (downstream of altered splice site)
535537STRANDmight get lost (downstream of altered splice site)
539539DISULFIDmight get lost (downstream of altered splice site)
540540CONFLICTN -> K (in Ref. 1; CAA25240).might get lost (downstream of altered splice site)
541546STRANDmight get lost (downstream of altered splice site)
548551STRANDmight get lost (downstream of altered splice site)
554557STRANDmight get lost (downstream of altered splice site)
555555DISULFIDmight get lost (downstream of altered splice site)
558558DISULFIDmight get lost (downstream of altered splice site)
562562DISULFIDmight get lost (downstream of altered splice site)
566568STRANDmight get lost (downstream of altered splice site)
568568CARBOHYDN-linked (GlcNAc...); partial.might get lost (downstream of altered splice site)
570575STRANDmight get lost (downstream of altered splice site)
571571DISULFIDmight get lost (downstream of altered splice site)
578587STRANDmight get lost (downstream of altered splice site)
579579DISULFIDmight get lost (downstream of altered splice site)
582582DISULFIDmight get lost (downstream of altered splice site)
587590MUTAGENDGPH->AGPA: Decreases intramolecular interactions and facilitates EGF binding.might get lost (downstream of altered splice site)
590594STRANDmight get lost (downstream of altered splice site)
591591DISULFIDmight get lost (downstream of altered splice site)
595595DISULFIDmight get lost (downstream of altered splice site)
597599STRANDmight get lost (downstream of altered splice site)
602604HELIXmight get lost (downstream of altered splice site)
603603CARBOHYDN-linked (GlcNAc...); partial.might get lost (downstream of altered splice site)
607611STRANDmight get lost (downstream of altered splice site)
609609MUTAGENK->A: Decreases intramolecular interactions and facilitates EGF binding.might get lost (downstream of altered splice site)
615619STRANDmight get lost (downstream of altered splice site)
617617DISULFIDmight get lost (downstream of altered splice site)
620620DISULFIDmight get lost (downstream of altered splice site)
624624DISULFIDmight get lost (downstream of altered splice site)
628628DISULFIDmight get lost (downstream of altered splice site)
629632STRANDmight get lost (downstream of altered splice site)
633635HELIXmight get lost (downstream of altered splice site)
636636DISULFIDmight get lost (downstream of altered splice site)
643646STRANDmight get lost (downstream of altered splice site)
646668TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
648669HELIXmight get lost (downstream of altered splice site)
6691210TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
671673STRANDmight get lost (downstream of altered splice site)
678678MOD_RESPhosphothreonine; by PKC and PKD/PRKD1.might get lost (downstream of altered splice site)
679684HELIXmight get lost (downstream of altered splice site)
685687HELIXmight get lost (downstream of altered splice site)
688688MUTAGENL->A: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
688692STRANDmight get lost (downstream of altered splice site)
688704REGIONImportant for dimerization, phosphorylation and activation.might get lost (downstream of altered splice site)
689689MUTAGENV->A: Reduced autophosphorylation.might get lost (downstream of altered splice site)
689689MUTAGENV->M: Constitutively activated kinase.might get lost (downstream of altered splice site)
690690MUTAGENE->A: Reduced phosphorylation.might get lost (downstream of altered splice site)
692692MUTAGENL->A,P: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
693693MUTAGENT->D: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
693693MOD_RESPhosphothreonine; by PKD/PRKD1.might get lost (downstream of altered splice site)
693693MUTAGENT->A: Increased phosphorylation.might get lost (downstream of altered splice site)
694694MUTAGENP->A: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
694697STRANDmight get lost (downstream of altered splice site)
695695MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
699699MUTAGENP->A: Reduced phosphorylation.might get lost (downstream of altered splice site)
700700MUTAGENN->A: Abolishes phosphorylation.might get lost (downstream of altered splice site)
703706STRANDmight get lost (downstream of altered splice site)
704704MUTAGENL->A: Abolishes phosphorylation.might get lost (downstream of altered splice site)
705705MUTAGENR->A: Abolishes phosphorylation.might get lost (downstream of altered splice site)
706706MUTAGENI->A: Abolishes phosphorylation.might get lost (downstream of altered splice site)
709711HELIXmight get lost (downstream of altered splice site)
712721STRANDmight get lost (downstream of altered splice site)
712979DOMAINProtein kinase.might get lost (downstream of altered splice site)
716716CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
718726NP_BINDATP.might get lost (downstream of altered splice site)
724731STRANDmight get lost (downstream of altered splice site)
725725MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
734736TURNmight get lost (downstream of altered splice site)
737737CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
740746STRANDmight get lost (downstream of altered splice site)
745745MUTAGENK->A,M: Abolishes kinase activity.might get lost (downstream of altered splice site)
745745BINDINGATP.might get lost (downstream of altered splice site)
748750STRANDmight get lost (downstream of altered splice site)
754754CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
756768HELIXmight get lost (downstream of altered splice site)
777791STRANDmight get lost (downstream of altered splice site)
790791NP_BINDATP.might get lost (downstream of altered splice site)
798804HELIXmight get lost (downstream of altered splice site)
805808TURNmight get lost (downstream of altered splice site)
811830HELIXmight get lost (downstream of altered splice site)
837837ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
840842HELIXmight get lost (downstream of altered splice site)
843847STRANDmight get lost (downstream of altered splice site)
850853STRANDmight get lost (downstream of altered splice site)
855855BINDINGATP.might get lost (downstream of altered splice site)
858862HELIXmight get lost (downstream of altered splice site)
863865TURNmight get lost (downstream of altered splice site)
867867CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
868870STRANDmight get lost (downstream of altered splice site)
869869MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
878880HELIXmight get lost (downstream of altered splice site)
883888HELIXmight get lost (downstream of altered splice site)
893908HELIXmight get lost (downstream of altered splice site)
909911TURNmight get lost (downstream of altered splice site)
914917TURNmight get lost (downstream of altered splice site)
920922HELIXmight get lost (downstream of altered splice site)
923928HELIXmight get lost (downstream of altered splice site)
929929CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
937939STRANDmight get lost (downstream of altered splice site)
941950HELIXmight get lost (downstream of altered splice site)
955957HELIXmight get lost (downstream of altered splice site)
961972HELIXmight get lost (downstream of altered splice site)
970970CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
974974MUTAGEND->A: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
975978HELIXmight get lost (downstream of altered splice site)
977977MUTAGENR->A: Reduced phosphorylation.might get lost (downstream of altered splice site)
978978MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
984986HELIXmight get lost (downstream of altered splice site)
991991MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
992994TURNmight get lost (downstream of altered splice site)
993993MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
995995MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
9961002HELIXmight get lost (downstream of altered splice site)
998998MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
10041006TURNmight get lost (downstream of altered splice site)
10051006MUTAGENED->RK: Constitutively activated kinase.might get lost (downstream of altered splice site)
10071009HELIXmight get lost (downstream of altered splice site)
10131016HELIXmight get lost (downstream of altered splice site)
10161016MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
10161016SITEImportant for interaction with PIK3C2B.might get lost (downstream of altered splice site)
10161016MUTAGENY->F: 50% decrease in interaction with PIK3C2B. 65% decrease in interaction with PIK3C2B; when associated with F-1197. Abolishes interaction with PIK3C2B; when associated with F-1197 and F-1092.might get lost (downstream of altered splice site)
10251025MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10251071COMPBIASSer-rich.might get lost (downstream of altered splice site)
10261026MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10371037MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10391039MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10411041MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
10421042MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10451045MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10641064MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10681070STRANDmight get lost (downstream of altered splice site)
10691069MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
10701070MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10711071MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10811081MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10921092MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
10921092MUTAGENY->F: No change in interaction with PIK3C2B. Abolishes interaction with PIK3C2B; when associated with F-1197 and F-1016.might get lost (downstream of altered splice site)
11101110MUTAGENY->F: No change in interaction with PIK3C2B.might get lost (downstream of altered splice site)
11101110MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
11381138MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
11661166MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11721172MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
11721172MUTAGENY->F: No change in interaction with PIK3C2B.might get lost (downstream of altered splice site)
11971197MUTAGENY->F: No change in interaction with PIK3C2B. 65% decrease in interaction with PIK3C2B; when associated with F-1016. Abolishes interaction with PIK3C2B; when associated with F-1092 and F-1016.might get lost (downstream of altered splice site)
11971197MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
11991199MOD_RESOmega-N-methylated arginine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3474 / 3474
position (AA) of stopcodon in wt / mu AA sequence 1158 / 1158
position of stopcodon in wt / mu cDNA 3657 / 3657
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 184 / 184
chromosome 7
strand 1
last intron/exon boundary 3296
theoretical NMD boundary in CDS 3062
length of CDS 3474
coding sequence (CDS) position 1403
cDNA position
(for ins/del: last normal base / first normal base)		 1586
gDNA position
(for ins/del: last normal base / first normal base)		 142542
chromosomal position
(for ins/del: last normal base / first normal base)		 55229255
original gDNA sequence snippet CTGCTGGGGCCCGGAGCCCAGGGACTGCGTCTCTTGCCGGA
altered gDNA sequence snippet CTGCTGGGGCCCGGAGCCCAAGGACTGCGTCTCTTGCCGGA
original cDNA sequence snippet CTGCTGGGGCCCGGAGCCCAGGGACTGCGTCTCTTGCCGGA
altered cDNA sequence snippet CTGCTGGGGCCCGGAGCCCAAGGACTGCGTCTCTTGCCGGA
wildtype AA sequence MFNNCEVVLG NLEITYVQRN YDLSFLKTIQ EVAGYVLIAL NTVERIPLEN LQIIRGNMYY
ENSYALAVLS NYDANKTGLK ELPMRNLQEI LHGAVRFSNN PALCNVESIQ WRDIVSSDFL
SNMSMDFQNH LGSCQKCDPS CPNGSCWGAG EENCQKLTKI ICAQQCSGRC RGKSPSDCCH
NQCAAGCTGP RESDCLVCRK FRDEATCKDT CPPLMLYNPT TYQMDVNPEG KYSFGATCVK
KCPRNYVVTD HGSCVRACGA DSYEMEEDGV RKCKKCEGPC RKVCNGIGIG EFKDSLSINA
TNIKHFKNCT SISGDLHILP VAFRGDSFTH TPPLDPQELD ILKTVKEITG FLLIQAWPEN
RTDLHAFENL EIIRGRTKQH GQFSLAVVSL NITSLGLRSL KEISDGDVII SGNKNLCYAN
TINWKKLFGT SGQKTKIISN RGENSCKATG QVCHALCSPE GCWGPEPRDC VSCRNVSRGR
ECVDKCNLLE GEPREFVENS ECIQCHPECL PQAMNITCTG RGPDNCIQCA HYIDGPHCVK
TCPAGVMGEN NTLVWKYADA GHVCHLCHPN CTYGCTGPGL EGCPTNGPKI PSIATGMVGA
LLLLLVVALG IGLFMRRRHI VRKRTLRRLL QERELVEPLT PSGEAPNQAL LRILKETEFK
KIKVLGSGAF GTVYKGLWIP EGEKVKIPVA IKELREATSP KANKEILDEA YVMASVDNPH
VCRLLGICLT STVQLITQLM PFGCLLDYVR EHKDNIGSQY LLNWCVQIAK GMNYLEDRRL
VHRDLAARNV LVKTPQHVKI TDFGLAKLLG AEEKEYHAEG GKVPIKWMAL ESILHRIYTH
QSDVWSYGVT VWELMTFGSK PYDGIPASEI SSILEKGERL PQPPICTIDV YMIMVKCWMI
DADSRPKFRE LIIEFSKMAR DPQRYLVIQG DERMHLPSPT DSNFYRALMD EEDMDDVVDA
DEYLIPQQGF FSSPSTSRTP LLSSLSATSN NSTVACIDRN GLQSCPIKED SFLQRYSSDP
TGALTEDSID DTFLPVPEYI NQSVPKRPAG SVQNPVYHNQ PLNPAPSRDP HYQDPHSTAV
GNPEYLNTVQ PTCVNSTFDS PAHWAQKGSH QISLDNPDYQ QDFFPKEAKP NGIFKGSTAE
NAEYLRVAPQ SSEFIGA*
mutated AA sequence MFNNCEVVLG NLEITYVQRN YDLSFLKTIQ EVAGYVLIAL NTVERIPLEN LQIIRGNMYY
ENSYALAVLS NYDANKTGLK ELPMRNLQEI LHGAVRFSNN PALCNVESIQ WRDIVSSDFL
SNMSMDFQNH LGSCQKCDPS CPNGSCWGAG EENCQKLTKI ICAQQCSGRC RGKSPSDCCH
NQCAAGCTGP RESDCLVCRK FRDEATCKDT CPPLMLYNPT TYQMDVNPEG KYSFGATCVK
KCPRNYVVTD HGSCVRACGA DSYEMEEDGV RKCKKCEGPC RKVCNGIGIG EFKDSLSINA
TNIKHFKNCT SISGDLHILP VAFRGDSFTH TPPLDPQELD ILKTVKEITG FLLIQAWPEN
RTDLHAFENL EIIRGRTKQH GQFSLAVVSL NITSLGLRSL KEISDGDVII SGNKNLCYAN
TINWKKLFGT SGQKTKIISN RGENSCKATG QVCHALCSPE GCWGPEPKDC VSCRNVSRGR
ECVDKCNLLE GEPREFVENS ECIQCHPECL PQAMNITCTG RGPDNCIQCA HYIDGPHCVK
TCPAGVMGEN NTLVWKYADA GHVCHLCHPN CTYGCTGPGL EGCPTNGPKI PSIATGMVGA
LLLLLVVALG IGLFMRRRHI VRKRTLRRLL QERELVEPLT PSGEAPNQAL LRILKETEFK
KIKVLGSGAF GTVYKGLWIP EGEKVKIPVA IKELREATSP KANKEILDEA YVMASVDNPH
VCRLLGICLT STVQLITQLM PFGCLLDYVR EHKDNIGSQY LLNWCVQIAK GMNYLEDRRL
VHRDLAARNV LVKTPQHVKI TDFGLAKLLG AEEKEYHAEG GKVPIKWMAL ESILHRIYTH
QSDVWSYGVT VWELMTFGSK PYDGIPASEI SSILEKGERL PQPPICTIDV YMIMVKCWMI
DADSRPKFRE LIIEFSKMAR DPQRYLVIQG DERMHLPSPT DSNFYRALMD EEDMDDVVDA
DEYLIPQQGF FSSPSTSRTP LLSSLSATSN NSTVACIDRN GLQSCPIKED SFLQRYSSDP
TGALTEDSID DTFLPVPEYI NQSVPKRPAG SVQNPVYHNQ PLNPAPSRDP HYQDPHSTAV
GNPEYLNTVQ PTCVNSTFDS PAHWAQKGSH QISLDNPDYQ QDFFPKEAKP NGIFKGSTAE
NAEYLRVAPQ SSEFIGA*
speed 0.15 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999997942 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM942312)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:55229255G>AN/A show variant in all transcripts   IGV
HGNC symbol EGFR
Ensembl transcript ID ENST00000342916
Genbank transcript ID NM_201282
UniProt peptide P00533
alteration type single base exchange
alteration region CDS
DNA changes c.1562G>A
cDNA.1808G>A
g.142542G>A
AA changes R521K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 521
frameshift no
known variant Reference ID: rs2227983
databasehomozygous (A/A)heterozygousallele carriers
1000G2789071185
ExAC56072155327160

known disease mutation at this position, please check HGMD for details (HGMD ID CM942312)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2750
-1.1370
(flanking)-0.0530.011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained1425370.91mu: CCGGAGCCCAAGGAC GGAG|ccca
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      521CSPEGCWGPEPRDCVSCRNVSRGR
mutated  all conserved    521CSPEGCWGPEPKDCVSCRNVSRG
Ptroglodytes  all identical  ENSPTRG00000019196  521CSPEGCWGPEPRDCVSCRNVSRG
Mmulatta  no alignment  ENSMMUG00000022394  n/a
Fcatus  all conserved  ENSFCAG00000015468  521CSSEGCWGPEPKDCVSCQNVTRG
Mmusculus  all identical  ENSMUSG00000020122  521CSSEGCWGPEPRDCVSCQNVSRG
Ggallus  not conserved  ENSGALG00000012363  493CSDVGCWGPGPFHCFSCRFFSRQ
Trubripes  not conserved  ENSTRUG00000011834  491CTAEGCWGSGPDMCFACSNYSRG
Drerio  not conserved  ENSDARG00000056909  525CGDEGCWGPGPSMCVFCQHVSRR
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
25645TOPO_DOMExtracellular (Potential).lost
390600REPEATApproximate.lost
515519STRANDmight get lost (downstream of altered splice site)
520522HELIXlost
523523DISULFIDmight get lost (downstream of altered splice site)
523526STRANDmight get lost (downstream of altered splice site)
526526DISULFIDmight get lost (downstream of altered splice site)
528528CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
535535DISULFIDmight get lost (downstream of altered splice site)
535537STRANDmight get lost (downstream of altered splice site)
539539DISULFIDmight get lost (downstream of altered splice site)
540540CONFLICTN -> K (in Ref. 1; CAA25240).might get lost (downstream of altered splice site)
541546STRANDmight get lost (downstream of altered splice site)
548551STRANDmight get lost (downstream of altered splice site)
554557STRANDmight get lost (downstream of altered splice site)
555555DISULFIDmight get lost (downstream of altered splice site)
558558DISULFIDmight get lost (downstream of altered splice site)
562562DISULFIDmight get lost (downstream of altered splice site)
566568STRANDmight get lost (downstream of altered splice site)
568568CARBOHYDN-linked (GlcNAc...); partial.might get lost (downstream of altered splice site)
570575STRANDmight get lost (downstream of altered splice site)
571571DISULFIDmight get lost (downstream of altered splice site)
578587STRANDmight get lost (downstream of altered splice site)
579579DISULFIDmight get lost (downstream of altered splice site)
582582DISULFIDmight get lost (downstream of altered splice site)
587590MUTAGENDGPH->AGPA: Decreases intramolecular interactions and facilitates EGF binding.might get lost (downstream of altered splice site)
590594STRANDmight get lost (downstream of altered splice site)
591591DISULFIDmight get lost (downstream of altered splice site)
595595DISULFIDmight get lost (downstream of altered splice site)
597599STRANDmight get lost (downstream of altered splice site)
602604HELIXmight get lost (downstream of altered splice site)
603603CARBOHYDN-linked (GlcNAc...); partial.might get lost (downstream of altered splice site)
607611STRANDmight get lost (downstream of altered splice site)
609609MUTAGENK->A: Decreases intramolecular interactions and facilitates EGF binding.might get lost (downstream of altered splice site)
615619STRANDmight get lost (downstream of altered splice site)
617617DISULFIDmight get lost (downstream of altered splice site)
620620DISULFIDmight get lost (downstream of altered splice site)
624624DISULFIDmight get lost (downstream of altered splice site)
628628DISULFIDmight get lost (downstream of altered splice site)
629632STRANDmight get lost (downstream of altered splice site)
633635HELIXmight get lost (downstream of altered splice site)
636636DISULFIDmight get lost (downstream of altered splice site)
643646STRANDmight get lost (downstream of altered splice site)
646668TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
648669HELIXmight get lost (downstream of altered splice site)
6691210TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
671673STRANDmight get lost (downstream of altered splice site)
678678MOD_RESPhosphothreonine; by PKC and PKD/PRKD1.might get lost (downstream of altered splice site)
679684HELIXmight get lost (downstream of altered splice site)
685687HELIXmight get lost (downstream of altered splice site)
688688MUTAGENL->A: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
688692STRANDmight get lost (downstream of altered splice site)
688704REGIONImportant for dimerization, phosphorylation and activation.might get lost (downstream of altered splice site)
689689MUTAGENV->A: Reduced autophosphorylation.might get lost (downstream of altered splice site)
689689MUTAGENV->M: Constitutively activated kinase.might get lost (downstream of altered splice site)
690690MUTAGENE->A: Reduced phosphorylation.might get lost (downstream of altered splice site)
692692MUTAGENL->A,P: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
693693MOD_RESPhosphothreonine; by PKD/PRKD1.might get lost (downstream of altered splice site)
693693MUTAGENT->D: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
693693MUTAGENT->A: Increased phosphorylation.might get lost (downstream of altered splice site)
694694MUTAGENP->A: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
694697STRANDmight get lost (downstream of altered splice site)
695695MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
699699MUTAGENP->A: Reduced phosphorylation.might get lost (downstream of altered splice site)
700700MUTAGENN->A: Abolishes phosphorylation.might get lost (downstream of altered splice site)
703706STRANDmight get lost (downstream of altered splice site)
704704MUTAGENL->A: Abolishes phosphorylation.might get lost (downstream of altered splice site)
705705MUTAGENR->A: Abolishes phosphorylation.might get lost (downstream of altered splice site)
706706MUTAGENI->A: Abolishes phosphorylation.might get lost (downstream of altered splice site)
709711HELIXmight get lost (downstream of altered splice site)
712721STRANDmight get lost (downstream of altered splice site)
712979DOMAINProtein kinase.might get lost (downstream of altered splice site)
716716CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
718726NP_BINDATP.might get lost (downstream of altered splice site)
724731STRANDmight get lost (downstream of altered splice site)
725725MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
734736TURNmight get lost (downstream of altered splice site)
737737CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
740746STRANDmight get lost (downstream of altered splice site)
745745MUTAGENK->A,M: Abolishes kinase activity.might get lost (downstream of altered splice site)
745745BINDINGATP.might get lost (downstream of altered splice site)
748750STRANDmight get lost (downstream of altered splice site)
754754CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
756768HELIXmight get lost (downstream of altered splice site)
777791STRANDmight get lost (downstream of altered splice site)
790791NP_BINDATP.might get lost (downstream of altered splice site)
798804HELIXmight get lost (downstream of altered splice site)
805808TURNmight get lost (downstream of altered splice site)
811830HELIXmight get lost (downstream of altered splice site)
837837ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
840842HELIXmight get lost (downstream of altered splice site)
843847STRANDmight get lost (downstream of altered splice site)
850853STRANDmight get lost (downstream of altered splice site)
855855BINDINGATP.might get lost (downstream of altered splice site)
858862HELIXmight get lost (downstream of altered splice site)
863865TURNmight get lost (downstream of altered splice site)
867867CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
868870STRANDmight get lost (downstream of altered splice site)
869869MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
878880HELIXmight get lost (downstream of altered splice site)
883888HELIXmight get lost (downstream of altered splice site)
893908HELIXmight get lost (downstream of altered splice site)
909911TURNmight get lost (downstream of altered splice site)
914917TURNmight get lost (downstream of altered splice site)
920922HELIXmight get lost (downstream of altered splice site)
923928HELIXmight get lost (downstream of altered splice site)
929929CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
937939STRANDmight get lost (downstream of altered splice site)
941950HELIXmight get lost (downstream of altered splice site)
955957HELIXmight get lost (downstream of altered splice site)
961972HELIXmight get lost (downstream of altered splice site)
970970CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
974974MUTAGEND->A: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
975978HELIXmight get lost (downstream of altered splice site)
977977MUTAGENR->A: Reduced phosphorylation.might get lost (downstream of altered splice site)
978978MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
984986HELIXmight get lost (downstream of altered splice site)
991991MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
992994TURNmight get lost (downstream of altered splice site)
993993MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
995995MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
9961002HELIXmight get lost (downstream of altered splice site)
998998MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
10041006TURNmight get lost (downstream of altered splice site)
10051006MUTAGENED->RK: Constitutively activated kinase.might get lost (downstream of altered splice site)
10071009HELIXmight get lost (downstream of altered splice site)
10131016HELIXmight get lost (downstream of altered splice site)
10161016MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
10161016MUTAGENY->F: 50% decrease in interaction with PIK3C2B. 65% decrease in interaction with PIK3C2B; when associated with F-1197. Abolishes interaction with PIK3C2B; when associated with F-1197 and F-1092.might get lost (downstream of altered splice site)
10161016SITEImportant for interaction with PIK3C2B.might get lost (downstream of altered splice site)
10251025MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10251071COMPBIASSer-rich.might get lost (downstream of altered splice site)
10261026MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10371037MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10391039MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10411041MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
10421042MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10451045MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10641064MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10681070STRANDmight get lost (downstream of altered splice site)
10691069MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
10701070MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10711071MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10811081MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10921092MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
10921092MUTAGENY->F: No change in interaction with PIK3C2B. Abolishes interaction with PIK3C2B; when associated with F-1197 and F-1016.might get lost (downstream of altered splice site)
11101110MUTAGENY->F: No change in interaction with PIK3C2B.might get lost (downstream of altered splice site)
11101110MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
11381138MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
11661166MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11721172MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
11721172MUTAGENY->F: No change in interaction with PIK3C2B.might get lost (downstream of altered splice site)
11971197MUTAGENY->F: No change in interaction with PIK3C2B. 65% decrease in interaction with PIK3C2B; when associated with F-1016. Abolishes interaction with PIK3C2B; when associated with F-1092 and F-1016.might get lost (downstream of altered splice site)
11971197MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
11991199MOD_RESOmega-N-methylated arginine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1887 / 1887
position (AA) of stopcodon in wt / mu AA sequence 629 / 629
position of stopcodon in wt / mu cDNA 2133 / 2133
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 247 / 247
chromosome 7
strand 1
last intron/exon boundary 2127
theoretical NMD boundary in CDS 1830
length of CDS 1887
coding sequence (CDS) position 1562
cDNA position
(for ins/del: last normal base / first normal base)		 1808
gDNA position
(for ins/del: last normal base / first normal base)		 142542
chromosomal position
(for ins/del: last normal base / first normal base)		 55229255
original gDNA sequence snippet CTGCTGGGGCCCGGAGCCCAGGGACTGCGTCTCTTGCCGGA
altered gDNA sequence snippet CTGCTGGGGCCCGGAGCCCAAGGACTGCGTCTCTTGCCGGA
original cDNA sequence snippet CTGCTGGGGCCCGGAGCCCAGGGACTGCGTCTCTTGCCGGA
altered cDNA sequence snippet CTGCTGGGGCCCGGAGCCCAAGGACTGCGTCTCTTGCCGGA
wildtype AA sequence MRPSGTAGAA LLALLAALCP ASRALEEKKV CQGTSNKLTQ LGTFEDHFLS LQRMFNNCEV
VLGNLEITYV QRNYDLSFLK TIQEVAGYVL IALNTVERIP LENLQIIRGN MYYENSYALA
VLSNYDANKT GLKELPMRNL QEILHGAVRF SNNPALCNVE SIQWRDIVSS DFLSNMSMDF
QNHLGSCQKC DPSCPNGSCW GAGEENCQKL TKIICAQQCS GRCRGKSPSD CCHNQCAAGC
TGPRESDCLV CRKFRDEATC KDTCPPLMLY NPTTYQMDVN PEGKYSFGAT CVKKCPRNYV
VTDHGSCVRA CGADSYEMEE DGVRKCKKCE GPCRKVCNGI GIGEFKDSLS INATNIKHFK
NCTSISGDLH ILPVAFRGDS FTHTPPLDPQ ELDILKTVKE ITGFLLIQAW PENRTDLHAF
ENLEIIRGRT KQHGQFSLAV VSLNITSLGL RSLKEISDGD VIISGNKNLC YANTINWKKL
FGTSGQKTKI ISNRGENSCK ATGQVCHALC SPEGCWGPEP RDCVSCRNVS RGRECVDKCN
LLEGEPREFV ENSECIQCHP ECLPQAMNIT CTGRGPDNCI QCAHYIDGPH CVKTCPAGVM
GENNTLVWKY ADAGHVCHLC HPNCTYGS*
mutated AA sequence MRPSGTAGAA LLALLAALCP ASRALEEKKV CQGTSNKLTQ LGTFEDHFLS LQRMFNNCEV
VLGNLEITYV QRNYDLSFLK TIQEVAGYVL IALNTVERIP LENLQIIRGN MYYENSYALA
VLSNYDANKT GLKELPMRNL QEILHGAVRF SNNPALCNVE SIQWRDIVSS DFLSNMSMDF
QNHLGSCQKC DPSCPNGSCW GAGEENCQKL TKIICAQQCS GRCRGKSPSD CCHNQCAAGC
TGPRESDCLV CRKFRDEATC KDTCPPLMLY NPTTYQMDVN PEGKYSFGAT CVKKCPRNYV
VTDHGSCVRA CGADSYEMEE DGVRKCKKCE GPCRKVCNGI GIGEFKDSLS INATNIKHFK
NCTSISGDLH ILPVAFRGDS FTHTPPLDPQ ELDILKTVKE ITGFLLIQAW PENRTDLHAF
ENLEIIRGRT KQHGQFSLAV VSLNITSLGL RSLKEISDGD VIISGNKNLC YANTINWKKL
FGTSGQKTKI ISNRGENSCK ATGQVCHALC SPEGCWGPEP KDCVSCRNVS RGRECVDKCN
LLEGEPREFV ENSECIQCHP ECLPQAMNIT CTGRGPDNCI QCAHYIDGPH CVKTCPAGVM
GENNTLVWKY ADAGHVCHLC HPNCTYGS*
speed 0.13 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999997942 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM942312)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:55229255G>AN/A show variant in all transcripts   IGV
HGNC symbol EGFR
Ensembl transcript ID ENST00000344576
Genbank transcript ID NM_201284
UniProt peptide P00533
alteration type single base exchange
alteration region CDS
DNA changes c.1562G>A
cDNA.1807G>A
g.142542G>A
AA changes R521K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 521
frameshift no
known variant Reference ID: rs2227983
databasehomozygous (A/A)heterozygousallele carriers
1000G2789071185
ExAC56072155327160

known disease mutation at this position, please check HGMD for details (HGMD ID CM942312)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2750
-1.1370
(flanking)-0.0530.011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained1425370.91mu: CCGGAGCCCAAGGAC GGAG|ccca
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      521CSPEGCWGPEPRDCVSCRNVSRGR
mutated  all conserved    521CSPEGCWGPEPKDCVSCRNVSRG
Ptroglodytes  all identical  ENSPTRG00000019196  521CSPEGCWGPEPRDCVSCRNVSRG
Mmulatta  no alignment  ENSMMUG00000022394  n/a
Fcatus  all conserved  ENSFCAG00000015468  521CSSEGCWGPEPKDCVSCQNVTRG
Mmusculus  all identical  ENSMUSG00000020122  521CSSEGCWGPEPRDCVSCQNVSRG
Ggallus  not conserved  ENSGALG00000012363  493CSDVGCWGPGPFHCFSCRFFSRQ
Trubripes  not conserved  ENSTRUG00000011834  491CTAEGCWGSGPDMCFACSNYSRG
Drerio  not conserved  ENSDARG00000056909  525CGDEGCWGPGPSMCVFCQHVSRR
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
25645TOPO_DOMExtracellular (Potential).lost
390600REPEATApproximate.lost
515519STRANDmight get lost (downstream of altered splice site)
520522HELIXlost
523523DISULFIDmight get lost (downstream of altered splice site)
523526STRANDmight get lost (downstream of altered splice site)
526526DISULFIDmight get lost (downstream of altered splice site)
528528CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
535535DISULFIDmight get lost (downstream of altered splice site)
535537STRANDmight get lost (downstream of altered splice site)
539539DISULFIDmight get lost (downstream of altered splice site)
540540CONFLICTN -> K (in Ref. 1; CAA25240).might get lost (downstream of altered splice site)
541546STRANDmight get lost (downstream of altered splice site)
548551STRANDmight get lost (downstream of altered splice site)
554557STRANDmight get lost (downstream of altered splice site)
555555DISULFIDmight get lost (downstream of altered splice site)
558558DISULFIDmight get lost (downstream of altered splice site)
562562DISULFIDmight get lost (downstream of altered splice site)
566568STRANDmight get lost (downstream of altered splice site)
568568CARBOHYDN-linked (GlcNAc...); partial.might get lost (downstream of altered splice site)
570575STRANDmight get lost (downstream of altered splice site)
571571DISULFIDmight get lost (downstream of altered splice site)
578587STRANDmight get lost (downstream of altered splice site)
579579DISULFIDmight get lost (downstream of altered splice site)
582582DISULFIDmight get lost (downstream of altered splice site)
587590MUTAGENDGPH->AGPA: Decreases intramolecular interactions and facilitates EGF binding.might get lost (downstream of altered splice site)
590594STRANDmight get lost (downstream of altered splice site)
591591DISULFIDmight get lost (downstream of altered splice site)
595595DISULFIDmight get lost (downstream of altered splice site)
597599STRANDmight get lost (downstream of altered splice site)
602604HELIXmight get lost (downstream of altered splice site)
603603CARBOHYDN-linked (GlcNAc...); partial.might get lost (downstream of altered splice site)
607611STRANDmight get lost (downstream of altered splice site)
609609MUTAGENK->A: Decreases intramolecular interactions and facilitates EGF binding.might get lost (downstream of altered splice site)
615619STRANDmight get lost (downstream of altered splice site)
617617DISULFIDmight get lost (downstream of altered splice site)
620620DISULFIDmight get lost (downstream of altered splice site)
624624DISULFIDmight get lost (downstream of altered splice site)
628628DISULFIDmight get lost (downstream of altered splice site)
629632STRANDmight get lost (downstream of altered splice site)
633635HELIXmight get lost (downstream of altered splice site)
636636DISULFIDmight get lost (downstream of altered splice site)
643646STRANDmight get lost (downstream of altered splice site)
646668TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
648669HELIXmight get lost (downstream of altered splice site)
6691210TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
671673STRANDmight get lost (downstream of altered splice site)
678678MOD_RESPhosphothreonine; by PKC and PKD/PRKD1.might get lost (downstream of altered splice site)
679684HELIXmight get lost (downstream of altered splice site)
685687HELIXmight get lost (downstream of altered splice site)
688688MUTAGENL->A: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
688692STRANDmight get lost (downstream of altered splice site)
688704REGIONImportant for dimerization, phosphorylation and activation.might get lost (downstream of altered splice site)
689689MUTAGENV->A: Reduced autophosphorylation.might get lost (downstream of altered splice site)
689689MUTAGENV->M: Constitutively activated kinase.might get lost (downstream of altered splice site)
690690MUTAGENE->A: Reduced phosphorylation.might get lost (downstream of altered splice site)
692692MUTAGENL->A,P: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
693693MOD_RESPhosphothreonine; by PKD/PRKD1.might get lost (downstream of altered splice site)
693693MUTAGENT->D: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
693693MUTAGENT->A: Increased phosphorylation.might get lost (downstream of altered splice site)
694694MUTAGENP->A: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
694697STRANDmight get lost (downstream of altered splice site)
695695MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
699699MUTAGENP->A: Reduced phosphorylation.might get lost (downstream of altered splice site)
700700MUTAGENN->A: Abolishes phosphorylation.might get lost (downstream of altered splice site)
703706STRANDmight get lost (downstream of altered splice site)
704704MUTAGENL->A: Abolishes phosphorylation.might get lost (downstream of altered splice site)
705705MUTAGENR->A: Abolishes phosphorylation.might get lost (downstream of altered splice site)
706706MUTAGENI->A: Abolishes phosphorylation.might get lost (downstream of altered splice site)
709711HELIXmight get lost (downstream of altered splice site)
712721STRANDmight get lost (downstream of altered splice site)
712979DOMAINProtein kinase.might get lost (downstream of altered splice site)
716716CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
718726NP_BINDATP.might get lost (downstream of altered splice site)
724731STRANDmight get lost (downstream of altered splice site)
725725MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
734736TURNmight get lost (downstream of altered splice site)
737737CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
740746STRANDmight get lost (downstream of altered splice site)
745745MUTAGENK->A,M: Abolishes kinase activity.might get lost (downstream of altered splice site)
745745BINDINGATP.might get lost (downstream of altered splice site)
748750STRANDmight get lost (downstream of altered splice site)
754754CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
756768HELIXmight get lost (downstream of altered splice site)
777791STRANDmight get lost (downstream of altered splice site)
790791NP_BINDATP.might get lost (downstream of altered splice site)
798804HELIXmight get lost (downstream of altered splice site)
805808TURNmight get lost (downstream of altered splice site)
811830HELIXmight get lost (downstream of altered splice site)
837837ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
840842HELIXmight get lost (downstream of altered splice site)
843847STRANDmight get lost (downstream of altered splice site)
850853STRANDmight get lost (downstream of altered splice site)
855855BINDINGATP.might get lost (downstream of altered splice site)
858862HELIXmight get lost (downstream of altered splice site)
863865TURNmight get lost (downstream of altered splice site)
867867CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
868870STRANDmight get lost (downstream of altered splice site)
869869MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
878880HELIXmight get lost (downstream of altered splice site)
883888HELIXmight get lost (downstream of altered splice site)
893908HELIXmight get lost (downstream of altered splice site)
909911TURNmight get lost (downstream of altered splice site)
914917TURNmight get lost (downstream of altered splice site)
920922HELIXmight get lost (downstream of altered splice site)
923928HELIXmight get lost (downstream of altered splice site)
929929CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
937939STRANDmight get lost (downstream of altered splice site)
941950HELIXmight get lost (downstream of altered splice site)
955957HELIXmight get lost (downstream of altered splice site)
961972HELIXmight get lost (downstream of altered splice site)
970970CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
974974MUTAGEND->A: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
975978HELIXmight get lost (downstream of altered splice site)
977977MUTAGENR->A: Reduced phosphorylation.might get lost (downstream of altered splice site)
978978MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
984986HELIXmight get lost (downstream of altered splice site)
991991MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
992994TURNmight get lost (downstream of altered splice site)
993993MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
995995MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
9961002HELIXmight get lost (downstream of altered splice site)
998998MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
10041006TURNmight get lost (downstream of altered splice site)
10051006MUTAGENED->RK: Constitutively activated kinase.might get lost (downstream of altered splice site)
10071009HELIXmight get lost (downstream of altered splice site)
10131016HELIXmight get lost (downstream of altered splice site)
10161016MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
10161016MUTAGENY->F: 50% decrease in interaction with PIK3C2B. 65% decrease in interaction with PIK3C2B; when associated with F-1197. Abolishes interaction with PIK3C2B; when associated with F-1197 and F-1092.might get lost (downstream of altered splice site)
10161016SITEImportant for interaction with PIK3C2B.might get lost (downstream of altered splice site)
10251025MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10251071COMPBIASSer-rich.might get lost (downstream of altered splice site)
10261026MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10371037MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10391039MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10411041MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
10421042MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10451045MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10641064MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10681070STRANDmight get lost (downstream of altered splice site)
10691069MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
10701070MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10711071MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10811081MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10921092MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
10921092MUTAGENY->F: No change in interaction with PIK3C2B. Abolishes interaction with PIK3C2B; when associated with F-1197 and F-1016.might get lost (downstream of altered splice site)
11101110MUTAGENY->F: No change in interaction with PIK3C2B.might get lost (downstream of altered splice site)
11101110MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
11381138MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
11661166MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11721172MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
11721172MUTAGENY->F: No change in interaction with PIK3C2B.might get lost (downstream of altered splice site)
11971197MUTAGENY->F: No change in interaction with PIK3C2B. 65% decrease in interaction with PIK3C2B; when associated with F-1016. Abolishes interaction with PIK3C2B; when associated with F-1092 and F-1016.might get lost (downstream of altered splice site)
11971197MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
11991199MOD_RESOmega-N-methylated arginine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2118 / 2118
position (AA) of stopcodon in wt / mu AA sequence 706 / 706
position of stopcodon in wt / mu cDNA 2363 / 2363
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 246 / 246
chromosome 7
strand 1
last intron/exon boundary 2126
theoretical NMD boundary in CDS 1830
length of CDS 2118
coding sequence (CDS) position 1562
cDNA position
(for ins/del: last normal base / first normal base)		 1807
gDNA position
(for ins/del: last normal base / first normal base)		 142542
chromosomal position
(for ins/del: last normal base / first normal base)		 55229255
original gDNA sequence snippet CTGCTGGGGCCCGGAGCCCAGGGACTGCGTCTCTTGCCGGA
altered gDNA sequence snippet CTGCTGGGGCCCGGAGCCCAAGGACTGCGTCTCTTGCCGGA
original cDNA sequence snippet CTGCTGGGGCCCGGAGCCCAGGGACTGCGTCTCTTGCCGGA
altered cDNA sequence snippet CTGCTGGGGCCCGGAGCCCAAGGACTGCGTCTCTTGCCGGA
wildtype AA sequence MRPSGTAGAA LLALLAALCP ASRALEEKKV CQGTSNKLTQ LGTFEDHFLS LQRMFNNCEV
VLGNLEITYV QRNYDLSFLK TIQEVAGYVL IALNTVERIP LENLQIIRGN MYYENSYALA
VLSNYDANKT GLKELPMRNL QEILHGAVRF SNNPALCNVE SIQWRDIVSS DFLSNMSMDF
QNHLGSCQKC DPSCPNGSCW GAGEENCQKL TKIICAQQCS GRCRGKSPSD CCHNQCAAGC
TGPRESDCLV CRKFRDEATC KDTCPPLMLY NPTTYQMDVN PEGKYSFGAT CVKKCPRNYV
VTDHGSCVRA CGADSYEMEE DGVRKCKKCE GPCRKVCNGI GIGEFKDSLS INATNIKHFK
NCTSISGDLH ILPVAFRGDS FTHTPPLDPQ ELDILKTVKE ITGFLLIQAW PENRTDLHAF
ENLEIIRGRT KQHGQFSLAV VSLNITSLGL RSLKEISDGD VIISGNKNLC YANTINWKKL
FGTSGQKTKI ISNRGENSCK ATGQVCHALC SPEGCWGPEP RDCVSCRNVS RGRECVDKCN
LLEGEPREFV ENSECIQCHP ECLPQAMNIT CTGRGPDNCI QCAHYIDGPH CVKTCPAGVM
GENNTLVWKY ADAGHVCHLC HPNCTYGPGN ESLKAMLFCL FKLSSCNQSN DGSVSHQSGS
PAAQESCLGW IPSLLPSEFQ LGWGGCSHLH AWPSASVIIT ASSCH*
mutated AA sequence MRPSGTAGAA LLALLAALCP ASRALEEKKV CQGTSNKLTQ LGTFEDHFLS LQRMFNNCEV
VLGNLEITYV QRNYDLSFLK TIQEVAGYVL IALNTVERIP LENLQIIRGN MYYENSYALA
VLSNYDANKT GLKELPMRNL QEILHGAVRF SNNPALCNVE SIQWRDIVSS DFLSNMSMDF
QNHLGSCQKC DPSCPNGSCW GAGEENCQKL TKIICAQQCS GRCRGKSPSD CCHNQCAAGC
TGPRESDCLV CRKFRDEATC KDTCPPLMLY NPTTYQMDVN PEGKYSFGAT CVKKCPRNYV
VTDHGSCVRA CGADSYEMEE DGVRKCKKCE GPCRKVCNGI GIGEFKDSLS INATNIKHFK
NCTSISGDLH ILPVAFRGDS FTHTPPLDPQ ELDILKTVKE ITGFLLIQAW PENRTDLHAF
ENLEIIRGRT KQHGQFSLAV VSLNITSLGL RSLKEISDGD VIISGNKNLC YANTINWKKL
FGTSGQKTKI ISNRGENSCK ATGQVCHALC SPEGCWGPEP KDCVSCRNVS RGRECVDKCN
LLEGEPREFV ENSECIQCHP ECLPQAMNIT CTGRGPDNCI QCAHYIDGPH CVKTCPAGVM
GENNTLVWKY ADAGHVCHLC HPNCTYGPGN ESLKAMLFCL FKLSSCNQSN DGSVSHQSGS
PAAQESCLGW IPSLLPSEFQ LGWGGCSHLH AWPSASVIIT ASSCH*
speed 1.21 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999997942 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM942312)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:55229255G>AN/A show variant in all transcripts   IGV
HGNC symbol EGFR
Ensembl transcript ID ENST00000275493
Genbank transcript ID NM_005228
UniProt peptide P00533
alteration type single base exchange
alteration region CDS
DNA changes c.1562G>A
cDNA.1739G>A
g.142542G>A
AA changes R521K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 521
frameshift no
known variant Reference ID: rs2227983
databasehomozygous (A/A)heterozygousallele carriers
1000G2789071185
ExAC56072155327160

known disease mutation at this position, please check HGMD for details (HGMD ID CM942312)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2750
-1.1370
(flanking)-0.0530.011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained1425370.91mu: CCGGAGCCCAAGGAC GGAG|ccca
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      521CSPEGCWGPEPRDCVSCRNVSRGR
mutated  all conserved    521CSPEGCWGPEPKDCVSCRNVSRG
Ptroglodytes  all identical  ENSPTRG00000019196  521CSPEGCWGPEPRDCVSCRNVSRG
Mmulatta  no alignment  ENSMMUG00000022394  n/a
Fcatus  all conserved  ENSFCAG00000015468  521CSSEGCWGPEPKDCVSCQNVTRG
Mmusculus  all identical  ENSMUSG00000020122  521CSSEGCWGPEPRDCVSCQNVSRG
Ggallus  not conserved  ENSGALG00000012363  493CSDVGCWGPGPFHCFSCRFFSRQ
Trubripes  not conserved  ENSTRUG00000011834  491CTAEGCWGSGPDMCFACSNYSRG
Drerio  not conserved  ENSDARG00000056909  525CGDEGCWGPGPSMCVFCQHVSRR
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
25645TOPO_DOMExtracellular (Potential).lost
390600REPEATApproximate.lost
515519STRANDmight get lost (downstream of altered splice site)
520522HELIXlost
523523DISULFIDmight get lost (downstream of altered splice site)
523526STRANDmight get lost (downstream of altered splice site)
526526DISULFIDmight get lost (downstream of altered splice site)
528528CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
535535DISULFIDmight get lost (downstream of altered splice site)
535537STRANDmight get lost (downstream of altered splice site)
539539DISULFIDmight get lost (downstream of altered splice site)
540540CONFLICTN -> K (in Ref. 1; CAA25240).might get lost (downstream of altered splice site)
541546STRANDmight get lost (downstream of altered splice site)
548551STRANDmight get lost (downstream of altered splice site)
554557STRANDmight get lost (downstream of altered splice site)
555555DISULFIDmight get lost (downstream of altered splice site)
558558DISULFIDmight get lost (downstream of altered splice site)
562562DISULFIDmight get lost (downstream of altered splice site)
566568STRANDmight get lost (downstream of altered splice site)
568568CARBOHYDN-linked (GlcNAc...); partial.might get lost (downstream of altered splice site)
570575STRANDmight get lost (downstream of altered splice site)
571571DISULFIDmight get lost (downstream of altered splice site)
578587STRANDmight get lost (downstream of altered splice site)
579579DISULFIDmight get lost (downstream of altered splice site)
582582DISULFIDmight get lost (downstream of altered splice site)
587590MUTAGENDGPH->AGPA: Decreases intramolecular interactions and facilitates EGF binding.might get lost (downstream of altered splice site)
590594STRANDmight get lost (downstream of altered splice site)
591591DISULFIDmight get lost (downstream of altered splice site)
595595DISULFIDmight get lost (downstream of altered splice site)
597599STRANDmight get lost (downstream of altered splice site)
602604HELIXmight get lost (downstream of altered splice site)
603603CARBOHYDN-linked (GlcNAc...); partial.might get lost (downstream of altered splice site)
607611STRANDmight get lost (downstream of altered splice site)
609609MUTAGENK->A: Decreases intramolecular interactions and facilitates EGF binding.might get lost (downstream of altered splice site)
615619STRANDmight get lost (downstream of altered splice site)
617617DISULFIDmight get lost (downstream of altered splice site)
620620DISULFIDmight get lost (downstream of altered splice site)
624624DISULFIDmight get lost (downstream of altered splice site)
628628DISULFIDmight get lost (downstream of altered splice site)
629632STRANDmight get lost (downstream of altered splice site)
633635HELIXmight get lost (downstream of altered splice site)
636636DISULFIDmight get lost (downstream of altered splice site)
643646STRANDmight get lost (downstream of altered splice site)
646668TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
648669HELIXmight get lost (downstream of altered splice site)
6691210TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
671673STRANDmight get lost (downstream of altered splice site)
678678MOD_RESPhosphothreonine; by PKC and PKD/PRKD1.might get lost (downstream of altered splice site)
679684HELIXmight get lost (downstream of altered splice site)
685687HELIXmight get lost (downstream of altered splice site)
688688MUTAGENL->A: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
688692STRANDmight get lost (downstream of altered splice site)
688704REGIONImportant for dimerization, phosphorylation and activation.might get lost (downstream of altered splice site)
689689MUTAGENV->A: Reduced autophosphorylation.might get lost (downstream of altered splice site)
689689MUTAGENV->M: Constitutively activated kinase.might get lost (downstream of altered splice site)
690690MUTAGENE->A: Reduced phosphorylation.might get lost (downstream of altered splice site)
692692MUTAGENL->A,P: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
693693MOD_RESPhosphothreonine; by PKD/PRKD1.might get lost (downstream of altered splice site)
693693MUTAGENT->D: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
693693MUTAGENT->A: Increased phosphorylation.might get lost (downstream of altered splice site)
694694MUTAGENP->A: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
694697STRANDmight get lost (downstream of altered splice site)
695695MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
699699MUTAGENP->A: Reduced phosphorylation.might get lost (downstream of altered splice site)
700700MUTAGENN->A: Abolishes phosphorylation.might get lost (downstream of altered splice site)
703706STRANDmight get lost (downstream of altered splice site)
704704MUTAGENL->A: Abolishes phosphorylation.might get lost (downstream of altered splice site)
705705MUTAGENR->A: Abolishes phosphorylation.might get lost (downstream of altered splice site)
706706MUTAGENI->A: Abolishes phosphorylation.might get lost (downstream of altered splice site)
709711HELIXmight get lost (downstream of altered splice site)
712721STRANDmight get lost (downstream of altered splice site)
712979DOMAINProtein kinase.might get lost (downstream of altered splice site)
716716CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
718726NP_BINDATP.might get lost (downstream of altered splice site)
724731STRANDmight get lost (downstream of altered splice site)
725725MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
734736TURNmight get lost (downstream of altered splice site)
737737CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
740746STRANDmight get lost (downstream of altered splice site)
745745MUTAGENK->A,M: Abolishes kinase activity.might get lost (downstream of altered splice site)
745745BINDINGATP.might get lost (downstream of altered splice site)
748750STRANDmight get lost (downstream of altered splice site)
754754CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
756768HELIXmight get lost (downstream of altered splice site)
777791STRANDmight get lost (downstream of altered splice site)
790791NP_BINDATP.might get lost (downstream of altered splice site)
798804HELIXmight get lost (downstream of altered splice site)
805808TURNmight get lost (downstream of altered splice site)
811830HELIXmight get lost (downstream of altered splice site)
837837ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
840842HELIXmight get lost (downstream of altered splice site)
843847STRANDmight get lost (downstream of altered splice site)
850853STRANDmight get lost (downstream of altered splice site)
855855BINDINGATP.might get lost (downstream of altered splice site)
858862HELIXmight get lost (downstream of altered splice site)
863865TURNmight get lost (downstream of altered splice site)
867867CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
868870STRANDmight get lost (downstream of altered splice site)
869869MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
878880HELIXmight get lost (downstream of altered splice site)
883888HELIXmight get lost (downstream of altered splice site)
893908HELIXmight get lost (downstream of altered splice site)
909911TURNmight get lost (downstream of altered splice site)
914917TURNmight get lost (downstream of altered splice site)
920922HELIXmight get lost (downstream of altered splice site)
923928HELIXmight get lost (downstream of altered splice site)
929929CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
937939STRANDmight get lost (downstream of altered splice site)
941950HELIXmight get lost (downstream of altered splice site)
955957HELIXmight get lost (downstream of altered splice site)
961972HELIXmight get lost (downstream of altered splice site)
970970CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
974974MUTAGEND->A: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
975978HELIXmight get lost (downstream of altered splice site)
977977MUTAGENR->A: Reduced phosphorylation.might get lost (downstream of altered splice site)
978978MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
984986HELIXmight get lost (downstream of altered splice site)
991991MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
992994TURNmight get lost (downstream of altered splice site)
993993MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
995995MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
9961002HELIXmight get lost (downstream of altered splice site)
998998MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
10041006TURNmight get lost (downstream of altered splice site)
10051006MUTAGENED->RK: Constitutively activated kinase.might get lost (downstream of altered splice site)
10071009HELIXmight get lost (downstream of altered splice site)
10131016HELIXmight get lost (downstream of altered splice site)
10161016MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
10161016MUTAGENY->F: 50% decrease in interaction with PIK3C2B. 65% decrease in interaction with PIK3C2B; when associated with F-1197. Abolishes interaction with PIK3C2B; when associated with F-1197 and F-1092.might get lost (downstream of altered splice site)
10161016SITEImportant for interaction with PIK3C2B.might get lost (downstream of altered splice site)
10251025MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10251071COMPBIASSer-rich.might get lost (downstream of altered splice site)
10261026MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10371037MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10391039MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10411041MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
10421042MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10451045MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10641064MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10681070STRANDmight get lost (downstream of altered splice site)
10691069MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
10701070MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10711071MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10811081MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10921092MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
10921092MUTAGENY->F: No change in interaction with PIK3C2B. Abolishes interaction with PIK3C2B; when associated with F-1197 and F-1016.might get lost (downstream of altered splice site)
11101110MUTAGENY->F: No change in interaction with PIK3C2B.might get lost (downstream of altered splice site)
11101110MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
11381138MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
11661166MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11721172MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
11721172MUTAGENY->F: No change in interaction with PIK3C2B.might get lost (downstream of altered splice site)
11971197MUTAGENY->F: No change in interaction with PIK3C2B. 65% decrease in interaction with PIK3C2B; when associated with F-1016. Abolishes interaction with PIK3C2B; when associated with F-1092 and F-1016.might get lost (downstream of altered splice site)
11971197MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
11991199MOD_RESOmega-N-methylated arginine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3633 / 3633
position (AA) of stopcodon in wt / mu AA sequence 1211 / 1211
position of stopcodon in wt / mu cDNA 3810 / 3810
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 178 / 178
chromosome 7
strand 1
last intron/exon boundary 3449
theoretical NMD boundary in CDS 3221
length of CDS 3633
coding sequence (CDS) position 1562
cDNA position
(for ins/del: last normal base / first normal base)		 1739
gDNA position
(for ins/del: last normal base / first normal base)		 142542
chromosomal position
(for ins/del: last normal base / first normal base)		 55229255
original gDNA sequence snippet CTGCTGGGGCCCGGAGCCCAGGGACTGCGTCTCTTGCCGGA
altered gDNA sequence snippet CTGCTGGGGCCCGGAGCCCAAGGACTGCGTCTCTTGCCGGA
original cDNA sequence snippet CTGCTGGGGCCCGGAGCCCAGGGACTGCGTCTCTTGCCGGA
altered cDNA sequence snippet CTGCTGGGGCCCGGAGCCCAAGGACTGCGTCTCTTGCCGGA
wildtype AA sequence MRPSGTAGAA LLALLAALCP ASRALEEKKV CQGTSNKLTQ LGTFEDHFLS LQRMFNNCEV
VLGNLEITYV QRNYDLSFLK TIQEVAGYVL IALNTVERIP LENLQIIRGN MYYENSYALA
VLSNYDANKT GLKELPMRNL QEILHGAVRF SNNPALCNVE SIQWRDIVSS DFLSNMSMDF
QNHLGSCQKC DPSCPNGSCW GAGEENCQKL TKIICAQQCS GRCRGKSPSD CCHNQCAAGC
TGPRESDCLV CRKFRDEATC KDTCPPLMLY NPTTYQMDVN PEGKYSFGAT CVKKCPRNYV
VTDHGSCVRA CGADSYEMEE DGVRKCKKCE GPCRKVCNGI GIGEFKDSLS INATNIKHFK
NCTSISGDLH ILPVAFRGDS FTHTPPLDPQ ELDILKTVKE ITGFLLIQAW PENRTDLHAF
ENLEIIRGRT KQHGQFSLAV VSLNITSLGL RSLKEISDGD VIISGNKNLC YANTINWKKL
FGTSGQKTKI ISNRGENSCK ATGQVCHALC SPEGCWGPEP RDCVSCRNVS RGRECVDKCN
LLEGEPREFV ENSECIQCHP ECLPQAMNIT CTGRGPDNCI QCAHYIDGPH CVKTCPAGVM
GENNTLVWKY ADAGHVCHLC HPNCTYGCTG PGLEGCPTNG PKIPSIATGM VGALLLLLVV
ALGIGLFMRR RHIVRKRTLR RLLQERELVE PLTPSGEAPN QALLRILKET EFKKIKVLGS
GAFGTVYKGL WIPEGEKVKI PVAIKELREA TSPKANKEIL DEAYVMASVD NPHVCRLLGI
CLTSTVQLIT QLMPFGCLLD YVREHKDNIG SQYLLNWCVQ IAKGMNYLED RRLVHRDLAA
RNVLVKTPQH VKITDFGLAK LLGAEEKEYH AEGGKVPIKW MALESILHRI YTHQSDVWSY
GVTVWELMTF GSKPYDGIPA SEISSILEKG ERLPQPPICT IDVYMIMVKC WMIDADSRPK
FRELIIEFSK MARDPQRYLV IQGDERMHLP SPTDSNFYRA LMDEEDMDDV VDADEYLIPQ
QGFFSSPSTS RTPLLSSLSA TSNNSTVACI DRNGLQSCPI KEDSFLQRYS SDPTGALTED
SIDDTFLPVP EYINQSVPKR PAGSVQNPVY HNQPLNPAPS RDPHYQDPHS TAVGNPEYLN
TVQPTCVNST FDSPAHWAQK GSHQISLDNP DYQQDFFPKE AKPNGIFKGS TAENAEYLRV
APQSSEFIGA *
mutated AA sequence MRPSGTAGAA LLALLAALCP ASRALEEKKV CQGTSNKLTQ LGTFEDHFLS LQRMFNNCEV
VLGNLEITYV QRNYDLSFLK TIQEVAGYVL IALNTVERIP LENLQIIRGN MYYENSYALA
VLSNYDANKT GLKELPMRNL QEILHGAVRF SNNPALCNVE SIQWRDIVSS DFLSNMSMDF
QNHLGSCQKC DPSCPNGSCW GAGEENCQKL TKIICAQQCS GRCRGKSPSD CCHNQCAAGC
TGPRESDCLV CRKFRDEATC KDTCPPLMLY NPTTYQMDVN PEGKYSFGAT CVKKCPRNYV
VTDHGSCVRA CGADSYEMEE DGVRKCKKCE GPCRKVCNGI GIGEFKDSLS INATNIKHFK
NCTSISGDLH ILPVAFRGDS FTHTPPLDPQ ELDILKTVKE ITGFLLIQAW PENRTDLHAF
ENLEIIRGRT KQHGQFSLAV VSLNITSLGL RSLKEISDGD VIISGNKNLC YANTINWKKL
FGTSGQKTKI ISNRGENSCK ATGQVCHALC SPEGCWGPEP KDCVSCRNVS RGRECVDKCN
LLEGEPREFV ENSECIQCHP ECLPQAMNIT CTGRGPDNCI QCAHYIDGPH CVKTCPAGVM
GENNTLVWKY ADAGHVCHLC HPNCTYGCTG PGLEGCPTNG PKIPSIATGM VGALLLLLVV
ALGIGLFMRR RHIVRKRTLR RLLQERELVE PLTPSGEAPN QALLRILKET EFKKIKVLGS
GAFGTVYKGL WIPEGEKVKI PVAIKELREA TSPKANKEIL DEAYVMASVD NPHVCRLLGI
CLTSTVQLIT QLMPFGCLLD YVREHKDNIG SQYLLNWCVQ IAKGMNYLED RRLVHRDLAA
RNVLVKTPQH VKITDFGLAK LLGAEEKEYH AEGGKVPIKW MALESILHRI YTHQSDVWSY
GVTVWELMTF GSKPYDGIPA SEISSILEKG ERLPQPPICT IDVYMIMVKC WMIDADSRPK
FRELIIEFSK MARDPQRYLV IQGDERMHLP SPTDSNFYRA LMDEEDMDDV VDADEYLIPQ
QGFFSSPSTS RTPLLSSLSA TSNNSTVACI DRNGLQSCPI KEDSFLQRYS SDPTGALTED
SIDDTFLPVP EYINQSVPKR PAGSVQNPVY HNQPLNPAPS RDPHYQDPHS TAVGNPEYLN
TVQPTCVNST FDSPAHWAQK GSHQISLDNP DYQQDFFPKE AKPNGIFKGS TAENAEYLRV
APQSSEFIGA *
speed 0.13 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999997942 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM942312)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:55229255G>AN/A show variant in all transcripts   IGV
HGNC symbol EGFR
Ensembl transcript ID ENST00000442591
Genbank transcript ID N/A
UniProt peptide P00533
alteration type single base exchange
alteration region CDS
DNA changes c.1562G>A
cDNA.1722G>A
g.142542G>A
AA changes R521K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 521
frameshift no
known variant Reference ID: rs2227983
databasehomozygous (A/A)heterozygousallele carriers
1000G2789071185
ExAC56072155327160

known disease mutation at this position, please check HGMD for details (HGMD ID CM942312)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2750
-1.1370
(flanking)-0.0530.011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained1425370.91mu: CCGGAGCCCAAGGAC GGAG|ccca
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      521CSPEGCWGPEPRDCVSCRNVSRGR
mutated  all conserved    521CSPEGCWGPEPKDCVSCRNVSRG
Ptroglodytes  all identical  ENSPTRG00000019196  521CSPEGCWGPEPRDCVSCRNVSRG
Mmulatta  no alignment  ENSMMUG00000022394  n/a
Fcatus  all conserved  ENSFCAG00000015468  521CSSEGCWGPEPKDCVSCQNVTRG
Mmusculus  all identical  ENSMUSG00000020122  521CSSEGCWGPEPRDCVSCQNVSRG
Ggallus  not conserved  ENSGALG00000012363  493CSDVGCWGPGPFHCFSCRFFSRQ
Trubripes  not conserved  ENSTRUG00000011834  491CTAEGCWGSGPDMCFACSNYSRG
Drerio  not conserved  ENSDARG00000056909  525CGDEGCWGPGPSMCVFCQHVSRR
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
25645TOPO_DOMExtracellular (Potential).lost
390600REPEATApproximate.lost
515519STRANDmight get lost (downstream of altered splice site)
520522HELIXlost
523523DISULFIDmight get lost (downstream of altered splice site)
523526STRANDmight get lost (downstream of altered splice site)
526526DISULFIDmight get lost (downstream of altered splice site)
528528CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
535535DISULFIDmight get lost (downstream of altered splice site)
535537STRANDmight get lost (downstream of altered splice site)
539539DISULFIDmight get lost (downstream of altered splice site)
540540CONFLICTN -> K (in Ref. 1; CAA25240).might get lost (downstream of altered splice site)
541546STRANDmight get lost (downstream of altered splice site)
548551STRANDmight get lost (downstream of altered splice site)
554557STRANDmight get lost (downstream of altered splice site)
555555DISULFIDmight get lost (downstream of altered splice site)
558558DISULFIDmight get lost (downstream of altered splice site)
562562DISULFIDmight get lost (downstream of altered splice site)
566568STRANDmight get lost (downstream of altered splice site)
568568CARBOHYDN-linked (GlcNAc...); partial.might get lost (downstream of altered splice site)
570575STRANDmight get lost (downstream of altered splice site)
571571DISULFIDmight get lost (downstream of altered splice site)
578587STRANDmight get lost (downstream of altered splice site)
579579DISULFIDmight get lost (downstream of altered splice site)
582582DISULFIDmight get lost (downstream of altered splice site)
587590MUTAGENDGPH->AGPA: Decreases intramolecular interactions and facilitates EGF binding.might get lost (downstream of altered splice site)
590594STRANDmight get lost (downstream of altered splice site)
591591DISULFIDmight get lost (downstream of altered splice site)
595595DISULFIDmight get lost (downstream of altered splice site)
597599STRANDmight get lost (downstream of altered splice site)
602604HELIXmight get lost (downstream of altered splice site)
603603CARBOHYDN-linked (GlcNAc...); partial.might get lost (downstream of altered splice site)
607611STRANDmight get lost (downstream of altered splice site)
609609MUTAGENK->A: Decreases intramolecular interactions and facilitates EGF binding.might get lost (downstream of altered splice site)
615619STRANDmight get lost (downstream of altered splice site)
617617DISULFIDmight get lost (downstream of altered splice site)
620620DISULFIDmight get lost (downstream of altered splice site)
624624DISULFIDmight get lost (downstream of altered splice site)
628628DISULFIDmight get lost (downstream of altered splice site)
629632STRANDmight get lost (downstream of altered splice site)
633635HELIXmight get lost (downstream of altered splice site)
636636DISULFIDmight get lost (downstream of altered splice site)
643646STRANDmight get lost (downstream of altered splice site)
646668TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
648669HELIXmight get lost (downstream of altered splice site)
6691210TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
671673STRANDmight get lost (downstream of altered splice site)
678678MOD_RESPhosphothreonine; by PKC and PKD/PRKD1.might get lost (downstream of altered splice site)
679684HELIXmight get lost (downstream of altered splice site)
685687HELIXmight get lost (downstream of altered splice site)
688688MUTAGENL->A: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
688692STRANDmight get lost (downstream of altered splice site)
688704REGIONImportant for dimerization, phosphorylation and activation.might get lost (downstream of altered splice site)
689689MUTAGENV->A: Reduced autophosphorylation.might get lost (downstream of altered splice site)
689689MUTAGENV->M: Constitutively activated kinase.might get lost (downstream of altered splice site)
690690MUTAGENE->A: Reduced phosphorylation.might get lost (downstream of altered splice site)
692692MUTAGENL->A,P: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
693693MOD_RESPhosphothreonine; by PKD/PRKD1.might get lost (downstream of altered splice site)
693693MUTAGENT->D: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
693693MUTAGENT->A: Increased phosphorylation.might get lost (downstream of altered splice site)
694694MUTAGENP->A: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
694697STRANDmight get lost (downstream of altered splice site)
695695MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
699699MUTAGENP->A: Reduced phosphorylation.might get lost (downstream of altered splice site)
700700MUTAGENN->A: Abolishes phosphorylation.might get lost (downstream of altered splice site)
703706STRANDmight get lost (downstream of altered splice site)
704704MUTAGENL->A: Abolishes phosphorylation.might get lost (downstream of altered splice site)
705705MUTAGENR->A: Abolishes phosphorylation.might get lost (downstream of altered splice site)
706706MUTAGENI->A: Abolishes phosphorylation.might get lost (downstream of altered splice site)
709711HELIXmight get lost (downstream of altered splice site)
712721STRANDmight get lost (downstream of altered splice site)
712979DOMAINProtein kinase.might get lost (downstream of altered splice site)
716716CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
718726NP_BINDATP.might get lost (downstream of altered splice site)
724731STRANDmight get lost (downstream of altered splice site)
725725MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
734736TURNmight get lost (downstream of altered splice site)
737737CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
740746STRANDmight get lost (downstream of altered splice site)
745745MUTAGENK->A,M: Abolishes kinase activity.might get lost (downstream of altered splice site)
745745BINDINGATP.might get lost (downstream of altered splice site)
748750STRANDmight get lost (downstream of altered splice site)
754754CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
756768HELIXmight get lost (downstream of altered splice site)
777791STRANDmight get lost (downstream of altered splice site)
790791NP_BINDATP.might get lost (downstream of altered splice site)
798804HELIXmight get lost (downstream of altered splice site)
805808TURNmight get lost (downstream of altered splice site)
811830HELIXmight get lost (downstream of altered splice site)
837837ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
840842HELIXmight get lost (downstream of altered splice site)
843847STRANDmight get lost (downstream of altered splice site)
850853STRANDmight get lost (downstream of altered splice site)
855855BINDINGATP.might get lost (downstream of altered splice site)
858862HELIXmight get lost (downstream of altered splice site)
863865TURNmight get lost (downstream of altered splice site)
867867CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
868870STRANDmight get lost (downstream of altered splice site)
869869MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
878880HELIXmight get lost (downstream of altered splice site)
883888HELIXmight get lost (downstream of altered splice site)
893908HELIXmight get lost (downstream of altered splice site)
909911TURNmight get lost (downstream of altered splice site)
914917TURNmight get lost (downstream of altered splice site)
920922HELIXmight get lost (downstream of altered splice site)
923928HELIXmight get lost (downstream of altered splice site)
929929CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
937939STRANDmight get lost (downstream of altered splice site)
941950HELIXmight get lost (downstream of altered splice site)
955957HELIXmight get lost (downstream of altered splice site)
961972HELIXmight get lost (downstream of altered splice site)
970970CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
974974MUTAGEND->A: Strongly reduced phosphorylation.might get lost (downstream of altered splice site)
975978HELIXmight get lost (downstream of altered splice site)
977977MUTAGENR->A: Reduced phosphorylation.might get lost (downstream of altered splice site)
978978MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
984986HELIXmight get lost (downstream of altered splice site)
991991MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
992994TURNmight get lost (downstream of altered splice site)
993993MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
995995MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
9961002HELIXmight get lost (downstream of altered splice site)
998998MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
10041006TURNmight get lost (downstream of altered splice site)
10051006MUTAGENED->RK: Constitutively activated kinase.might get lost (downstream of altered splice site)
10071009HELIXmight get lost (downstream of altered splice site)
10131016HELIXmight get lost (downstream of altered splice site)
10161016MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
10161016MUTAGENY->F: 50% decrease in interaction with PIK3C2B. 65% decrease in interaction with PIK3C2B; when associated with F-1197. Abolishes interaction with PIK3C2B; when associated with F-1197 and F-1092.might get lost (downstream of altered splice site)
10161016SITEImportant for interaction with PIK3C2B.might get lost (downstream of altered splice site)
10251025MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10251071COMPBIASSer-rich.might get lost (downstream of altered splice site)
10261026MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10371037MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10391039MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10411041MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
10421042MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10451045MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10641064MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10681070STRANDmight get lost (downstream of altered splice site)
10691069MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
10701070MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10711071MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10811081MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10921092MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
10921092MUTAGENY->F: No change in interaction with PIK3C2B. Abolishes interaction with PIK3C2B; when associated with F-1197 and F-1016.might get lost (downstream of altered splice site)
11101110MUTAGENY->F: No change in interaction with PIK3C2B.might get lost (downstream of altered splice site)
11101110MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
11381138MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
11661166MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11721172MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
11721172MUTAGENY->F: No change in interaction with PIK3C2B.might get lost (downstream of altered splice site)
11971197MUTAGENY->F: No change in interaction with PIK3C2B. 65% decrease in interaction with PIK3C2B; when associated with F-1016. Abolishes interaction with PIK3C2B; when associated with F-1092 and F-1016.might get lost (downstream of altered splice site)
11971197MOD_RESPhosphotyrosine; by autocatalysis.might get lost (downstream of altered splice site)
11991199MOD_RESOmega-N-methylated arginine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1974 / 1974
position (AA) of stopcodon in wt / mu AA sequence 658 / 658
position of stopcodon in wt / mu cDNA 2134 / 2134
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 161 / 161
chromosome 7
strand 1
last intron/exon boundary 2163
theoretical NMD boundary in CDS 1952
length of CDS 1974
coding sequence (CDS) position 1562
cDNA position
(for ins/del: last normal base / first normal base)		 1722
gDNA position
(for ins/del: last normal base / first normal base)		 142542
chromosomal position
(for ins/del: last normal base / first normal base)		 55229255
original gDNA sequence snippet CTGCTGGGGCCCGGAGCCCAGGGACTGCGTCTCTTGCCGGA
altered gDNA sequence snippet CTGCTGGGGCCCGGAGCCCAAGGACTGCGTCTCTTGCCGGA
original cDNA sequence snippet CTGCTGGGGCCCGGAGCCCAGGGACTGCGTCTCTTGCCGGA
altered cDNA sequence snippet CTGCTGGGGCCCGGAGCCCAAGGACTGCGTCTCTTGCCGGA
wildtype AA sequence MRPSGTAGAA LLALLAALCP ASRALEEKKV CQGTSNKLTQ LGTFEDHFLS LQRMFNNCEV
VLGNLEITYV QRNYDLSFLK TIQEVAGYVL IALNTVERIP LENLQIIRGN MYYENSYALA
VLSNYDANKT GLKELPMRNL QEILHGAVRF SNNPALCNVE SIQWRDIVSS DFLSNMSMDF
QNHLGSCQKC DPSCPNGSCW GAGEENCQKL TKIICAQQCS GRCRGKSPSD CCHNQCAAGC
TGPRESDCLV CRKFRDEATC KDTCPPLMLY NPTTYQMDVN PEGKYSFGAT CVKKCPRNYV
VTDHGSCVRA CGADSYEMEE DGVRKCKKCE GPCRKVCNGI GIGEFKDSLS INATNIKHFK
NCTSISGDLH ILPVAFRGDS FTHTPPLDPQ ELDILKTVKE ITGFLLIQAW PENRTDLHAF
ENLEIIRGRT KQHGQFSLAV VSLNITSLGL RSLKEISDGD VIISGNKNLC YANTINWKKL
FGTSGQKTKI ISNRGENSCK ATGQVCHALC SPEGCWGPEP RDCVSCRNVS RGRECVDKCN
LLEGEPREFV ENSECIQCHP ECLPQAMNIT CTGRGPDNCI QCAHYIDGPH CVKTCPAGVM
GENNTLVWKY ADAGHVCHLC HPNCTYGCTG PGLEGCPTNG SYIVSHFPRS FYKMSVH*
mutated AA sequence MRPSGTAGAA LLALLAALCP ASRALEEKKV CQGTSNKLTQ LGTFEDHFLS LQRMFNNCEV
VLGNLEITYV QRNYDLSFLK TIQEVAGYVL IALNTVERIP LENLQIIRGN MYYENSYALA
VLSNYDANKT GLKELPMRNL QEILHGAVRF SNNPALCNVE SIQWRDIVSS DFLSNMSMDF
QNHLGSCQKC DPSCPNGSCW GAGEENCQKL TKIICAQQCS GRCRGKSPSD CCHNQCAAGC
TGPRESDCLV CRKFRDEATC KDTCPPLMLY NPTTYQMDVN PEGKYSFGAT CVKKCPRNYV
VTDHGSCVRA CGADSYEMEE DGVRKCKKCE GPCRKVCNGI GIGEFKDSLS INATNIKHFK
NCTSISGDLH ILPVAFRGDS FTHTPPLDPQ ELDILKTVKE ITGFLLIQAW PENRTDLHAF
ENLEIIRGRT KQHGQFSLAV VSLNITSLGL RSLKEISDGD VIISGNKNLC YANTINWKKL
FGTSGQKTKI ISNRGENSCK ATGQVCHALC SPEGCWGPEP KDCVSCRNVS RGRECVDKCN
LLEGEPREFV ENSECIQCHP ECLPQAMNIT CTGRGPDNCI QCAHYIDGPH CVKTCPAGVM
GENNTLVWKY ADAGHVCHLC HPNCTYGCTG PGLEGCPTNG SYIVSHFPRS FYKMSVH*
speed 1.38 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Problems