mutation t@sting

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

known variant

Reference ID: rs2227983

database	homozygous (A/A)	heterozygous	allele carriers
1000G	278	907	1185
ExAC	5607	21553	27160

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

	PhyloP	PhastCons
(flanking)	-0.275	0
	-1.137	0
(flanking)	-0.053	0.011

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor gained	142537	0.91	mu: CCGGAGCCCAAGGAC	GGAG\|ccca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

521

mutated

all conserved

521

Ptroglodytes

all identical

ENSPTRG00000019196

521

Mmulatta

no alignment

ENSMMUG00000022394

n/a

Fcatus

all conserved

ENSFCAG00000015468

521

Mmusculus

all identical

ENSMUSG00000020122

521

Ggallus

not conserved

ENSGALG00000012363

493

Trubripes

not conserved

ENSTRUG00000011834

491

Drerio

not conserved

ENSDARG00000056909

525

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
25	645	TOPO_DOM	Extracellular (Potential).	lost
390	600	REPEAT	Approximate.	lost
515	519	STRAND		might get lost (downstream of altered splice site)
520	522	HELIX		lost
523	523	DISULFID		might get lost (downstream of altered splice site)
523	526	STRAND		might get lost (downstream of altered splice site)
526	526	DISULFID		might get lost (downstream of altered splice site)
528	528	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
535	535	DISULFID		might get lost (downstream of altered splice site)
535	537	STRAND		might get lost (downstream of altered splice site)
539	539	DISULFID		might get lost (downstream of altered splice site)
540	540	CONFLICT	N -> K (in Ref. 1; CAA25240).	might get lost (downstream of altered splice site)
541	546	STRAND		might get lost (downstream of altered splice site)
548	551	STRAND		might get lost (downstream of altered splice site)
554	557	STRAND		might get lost (downstream of altered splice site)
555	555	DISULFID		might get lost (downstream of altered splice site)
558	558	DISULFID		might get lost (downstream of altered splice site)
562	562	DISULFID		might get lost (downstream of altered splice site)
566	568	STRAND		might get lost (downstream of altered splice site)
568	568	CARBOHYD	N-linked (GlcNAc...); partial.	might get lost (downstream of altered splice site)
570	575	STRAND		might get lost (downstream of altered splice site)
571	571	DISULFID		might get lost (downstream of altered splice site)
578	587	STRAND		might get lost (downstream of altered splice site)
579	579	DISULFID		might get lost (downstream of altered splice site)
582	582	DISULFID		might get lost (downstream of altered splice site)
587	590	MUTAGEN	DGPH->AGPA: Decreases intramolecular interactions and facilitates EGF binding.	might get lost (downstream of altered splice site)
590	594	STRAND		might get lost (downstream of altered splice site)
591	591	DISULFID		might get lost (downstream of altered splice site)
595	595	DISULFID		might get lost (downstream of altered splice site)
597	599	STRAND		might get lost (downstream of altered splice site)
602	604	HELIX		might get lost (downstream of altered splice site)
603	603	CARBOHYD	N-linked (GlcNAc...); partial.	might get lost (downstream of altered splice site)
607	611	STRAND		might get lost (downstream of altered splice site)
609	609	MUTAGEN	K->A: Decreases intramolecular interactions and facilitates EGF binding.	might get lost (downstream of altered splice site)
615	619	STRAND		might get lost (downstream of altered splice site)
617	617	DISULFID		might get lost (downstream of altered splice site)
620	620	DISULFID		might get lost (downstream of altered splice site)
624	624	DISULFID		might get lost (downstream of altered splice site)
628	628	DISULFID		might get lost (downstream of altered splice site)
629	632	STRAND		might get lost (downstream of altered splice site)
633	635	HELIX		might get lost (downstream of altered splice site)
636	636	DISULFID		might get lost (downstream of altered splice site)
643	646	STRAND		might get lost (downstream of altered splice site)
646	668	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
648	669	HELIX		might get lost (downstream of altered splice site)
669	1210	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
671	673	STRAND		might get lost (downstream of altered splice site)
678	678	MOD_RES	Phosphothreonine; by PKC and PKD/PRKD1.	might get lost (downstream of altered splice site)
679	684	HELIX		might get lost (downstream of altered splice site)
685	687	HELIX		might get lost (downstream of altered splice site)
688	688	MUTAGEN	L->A: Strongly reduced phosphorylation.	might get lost (downstream of altered splice site)
688	692	STRAND		might get lost (downstream of altered splice site)
688	704	REGION	Important for dimerization, phosphorylation and activation.	might get lost (downstream of altered splice site)
689	689	MUTAGEN	V->A: Reduced autophosphorylation.	might get lost (downstream of altered splice site)
689	689	MUTAGEN	V->M: Constitutively activated kinase.	might get lost (downstream of altered splice site)
690	690	MUTAGEN	E->A: Reduced phosphorylation.	might get lost (downstream of altered splice site)
692	692	MUTAGEN	L->A,P: Strongly reduced phosphorylation.	might get lost (downstream of altered splice site)
693	693	MOD_RES	Phosphothreonine; by PKD/PRKD1.	might get lost (downstream of altered splice site)
693	693	MUTAGEN	T->D: Strongly reduced phosphorylation.	might get lost (downstream of altered splice site)
693	693	MUTAGEN	T->A: Increased phosphorylation.	might get lost (downstream of altered splice site)
694	694	MUTAGEN	P->A: Strongly reduced phosphorylation.	might get lost (downstream of altered splice site)
694	697	STRAND		might get lost (downstream of altered splice site)
695	695	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
699	699	MUTAGEN	P->A: Reduced phosphorylation.	might get lost (downstream of altered splice site)
700	700	MUTAGEN	N->A: Abolishes phosphorylation.	might get lost (downstream of altered splice site)
703	706	STRAND		might get lost (downstream of altered splice site)
704	704	MUTAGEN	L->A: Abolishes phosphorylation.	might get lost (downstream of altered splice site)
705	705	MUTAGEN	R->A: Abolishes phosphorylation.	might get lost (downstream of altered splice site)
706	706	MUTAGEN	I->A: Abolishes phosphorylation.	might get lost (downstream of altered splice site)
709	711	HELIX		might get lost (downstream of altered splice site)
712	721	STRAND		might get lost (downstream of altered splice site)
712	979	DOMAIN	Protein kinase.	might get lost (downstream of altered splice site)
716	716	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).	might get lost (downstream of altered splice site)
718	726	NP_BIND	ATP.	might get lost (downstream of altered splice site)
724	731	STRAND		might get lost (downstream of altered splice site)
725	725	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
734	736	TURN		might get lost (downstream of altered splice site)
737	737	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).	might get lost (downstream of altered splice site)
740	746	STRAND		might get lost (downstream of altered splice site)
745	745	MUTAGEN	K->A,M: Abolishes kinase activity.	might get lost (downstream of altered splice site)
745	745	BINDING	ATP.	might get lost (downstream of altered splice site)
748	750	STRAND		might get lost (downstream of altered splice site)
754	754	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).	might get lost (downstream of altered splice site)
756	768	HELIX		might get lost (downstream of altered splice site)
777	791	STRAND		might get lost (downstream of altered splice site)
790	791	NP_BIND	ATP.	might get lost (downstream of altered splice site)
798	804	HELIX		might get lost (downstream of altered splice site)
805	808	TURN		might get lost (downstream of altered splice site)
811	830	HELIX		might get lost (downstream of altered splice site)
837	837	ACT_SITE	Proton acceptor (By similarity).	might get lost (downstream of altered splice site)
840	842	HELIX		might get lost (downstream of altered splice site)
843	847	STRAND		might get lost (downstream of altered splice site)
850	853	STRAND		might get lost (downstream of altered splice site)
855	855	BINDING	ATP.	might get lost (downstream of altered splice site)
858	862	HELIX		might get lost (downstream of altered splice site)
863	865	TURN		might get lost (downstream of altered splice site)
867	867	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).	might get lost (downstream of altered splice site)
868	870	STRAND		might get lost (downstream of altered splice site)
869	869	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
878	880	HELIX		might get lost (downstream of altered splice site)
883	888	HELIX		might get lost (downstream of altered splice site)
893	908	HELIX		might get lost (downstream of altered splice site)
909	911	TURN		might get lost (downstream of altered splice site)
914	917	TURN		might get lost (downstream of altered splice site)
920	922	HELIX		might get lost (downstream of altered splice site)
923	928	HELIX		might get lost (downstream of altered splice site)
929	929	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).	might get lost (downstream of altered splice site)
937	939	STRAND		might get lost (downstream of altered splice site)
941	950	HELIX		might get lost (downstream of altered splice site)
955	957	HELIX		might get lost (downstream of altered splice site)
961	972	HELIX		might get lost (downstream of altered splice site)
970	970	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).	might get lost (downstream of altered splice site)
974	974	MUTAGEN	D->A: Strongly reduced phosphorylation.	might get lost (downstream of altered splice site)
975	978	HELIX		might get lost (downstream of altered splice site)
977	977	MUTAGEN	R->A: Reduced phosphorylation.	might get lost (downstream of altered splice site)
978	978	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
984	986	HELIX		might get lost (downstream of altered splice site)
991	991	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
992	994	TURN		might get lost (downstream of altered splice site)
993	993	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
995	995	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
996	1002	HELIX		might get lost (downstream of altered splice site)
998	998	MOD_RES	Phosphotyrosine; by autocatalysis.	might get lost (downstream of altered splice site)
1004	1006	TURN		might get lost (downstream of altered splice site)
1005	1006	MUTAGEN	ED->RK: Constitutively activated kinase.	might get lost (downstream of altered splice site)
1007	1009	HELIX		might get lost (downstream of altered splice site)
1013	1016	HELIX		might get lost (downstream of altered splice site)
1016	1016	MOD_RES	Phosphotyrosine; by autocatalysis.	might get lost (downstream of altered splice site)
1016	1016	MUTAGEN	Y->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)
1016	1016	SITE	Important for interaction with PIK3C2B.	might get lost (downstream of altered splice site)
1025	1025	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1025	1071	COMPBIAS	Ser-rich.	might get lost (downstream of altered splice site)
1026	1026	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1037	1037	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1039	1039	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1041	1041	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1042	1042	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1045	1045	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1064	1064	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1068	1070	STRAND		might get lost (downstream of altered splice site)
1069	1069	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
1070	1070	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1071	1071	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1081	1081	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1092	1092	MOD_RES	Phosphotyrosine; by autocatalysis.	might get lost (downstream of altered splice site)
1092	1092	MUTAGEN	Y->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)
1110	1110	MUTAGEN	Y->F: No change in interaction with PIK3C2B.	might get lost (downstream of altered splice site)
1110	1110	MOD_RES	Phosphotyrosine; by autocatalysis.	might get lost (downstream of altered splice site)
1138	1138	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
1166	1166	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1172	1172	MOD_RES	Phosphotyrosine; by autocatalysis.	might get lost (downstream of altered splice site)
1172	1172	MUTAGEN	Y->F: No change in interaction with PIK3C2B.	might get lost (downstream of altered splice site)
1197	1197	MUTAGEN	Y->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)
1197	1197	MOD_RES	Phosphotyrosine; by autocatalysis.	might get lost (downstream of altered splice site)
1199	1199	MOD_RES	Omega-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

strand

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

0.95 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