MutationT@ster 2025

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Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000450046
Querying Taster for transcript #2: ENST00000455089
Querying Taster for transcript #3: ENST00000275493
MT speed 0.22 s - this script 2.632436 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000275493(MANE Select)	EGFR	Deleterious	84\|16	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000455089	EGFR	Deleterious	92\|8	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000450046	EGFR	Deleterious	96\|4	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed

MutationT@ster 2025

Variant:

7:55181378C>A_3_ENST00000275493

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 84|16 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:55181378C>A (GRCh38)

Gene symbol

EGFR

Gene constraints

LOEUF: 0.47, LOF (oe): 0.38, misssense (oe): 0.79, synonymous (oe): 0.99 ? (gnomAD)

Ensembl transcript ID

ENST00000275493.7

Genbank transcript ID

NM_005228 (exact from MANE), NM_001346899 (by similarity), NM_001346941 (by similarity)

UniProt / AlphaMissense peptide

EGFR_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2369C>A
g.162362C>A

AA changes

AAE:	T790K	?
Score:	78

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		790	G	I	C	L	T	S	T	V	Q	L	I	T	Q	L	M	P	F	G	C	L	L	D	Y	V
mutated	not conserved	790			C	L	T	S	T	V	Q	L	I	K	Q	L	M	P	F	G	C	L	L	D	Y
Ptroglodytes	all identical	790			C	L	T	S	T	V	Q	L	I	T	Q	L	M	P	F	G	C	L	L	D	Y
Mmulatta	all identical	790			C	L	T	S	T	V	Q	L	I	T	Q	L	M	P	F	G	C	L	L	D	Y
Fcatus	all identical	790			C	L	T	S	T	V	Q	L	I	T	Q	L	M	P	F	G	C	L	L	D	Y
Mmusculus	all identical	792	G	I	C	L	T	S	T	V	Q	L	I	T	Q	L	M	P	Y	G	C	L	L	D	Y
Ggallus	all identical	824	G	I	C	L	T	S	T	V	Q	L	I	T	Q	L	M	P	Y	G	C	L	L	D	Y
Trubripes	all identical	1969	G	I	C	L	T	S	T	V	Q	L	I	T	Q	L	M	P	Y	G	C	L	L	D	Y
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	791	G	I	C	L	T	S	T	V	Q	L	I	T	Q	L	M	P	F	G	C	L	L	D

Protein features

Start (aa)	End (aa)	Feature	Details
25	1210	CHAIN		lost
669	1210	TOPO_DOM	Cytoplasmic	lost
712	979	DOMAIN	Protein kinase	lost
787	791	STRAND		lost
790	791	BINDING	ATP	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.289	1
	4.946	1
(flanking)	-2.19	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

1

Original gDNA sequence snippet

CTCCACCGTGCAGCTCATCACGCAGCTCATGCCCTTCGGCT

Altered gDNA sequence snippet

CTCCACCGTGCAGCTCATCAAGCAGCTCATGCCCTTCGGCT

Original cDNA sequence snippet

CTCCACCGTGCAGCTCATCACGCAGCTCATGCCCTTCGGCT

Altered cDNA sequence snippet

CTCCACCGTGCAGCTCATCAAGCAGCTCATGCCCTTCGGCT

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 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
CLTSTVQLIK 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 *

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

3894 / 3894

Position of start ATG in wt / mu cDNA

262 / 262

Last intron/exon boundary

3532

Theoretical NMD boundary in CDS

3220

Length of CDS

3633

Coding sequence (CDS) position

2369

cDNA position

2630

gDNA position

162362

Chromosomal position

55181378

Speed

0.04 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:55181378C>A_2_ENST00000455089

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 92|8 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:55181378C>A (GRCh38)

Gene symbol

EGFR

Gene constraints

LOEUF: 0.50, LOF (oe): 0.40, misssense (oe): 0.78, synonymous (oe): 1.01 ? (gnomAD)

Ensembl transcript ID

ENST00000455089.5

Genbank transcript ID

NM_001346898 (by similarity), NM_001346897 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2234C>A
g.162362C>A

AA changes

AAE:	T745K	?
Score:	78

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		745	G	I	C	L	T	S	T	V	Q	L	I	T	Q	L	M	P	F	G	C	L	L	D	Y	V
mutated	not conserved	745	G	I	C	L	T	S	T	V	Q	L	I	K	Q	L	M	P	F	G	C	L	L	D	Y
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.289	1
	4.946	1
(flanking)	-2.19	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

1

Original gDNA sequence snippet

CTCCACCGTGCAGCTCATCACGCAGCTCATGCCCTTCGGCT

Altered gDNA sequence snippet

CTCCACCGTGCAGCTCATCAAGCAGCTCATGCCCTTCGGCT

Original cDNA sequence snippet

CTCCACCGTGCAGCTCATCACGCAGCTCATGCCCTTCGGCT

Altered cDNA sequence snippet

CTCCACCGTGCAGCTCATCAAGCAGCTCATGCCCTTCGGCT

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 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 VQLIKQLMPF 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*

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

Position of start ATG in wt / mu cDNA

258 / 258

Last intron/exon boundary

3284

Theoretical NMD boundary in CDS

2976

Length of CDS

3276

Coding sequence (CDS) position

2234

cDNA position

2491

gDNA position

162362

Chromosomal position

55181378

Speed

0.05 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:55181378C>A_1_ENST00000450046

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 96|4 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:55181378C>A (GRCh38)

Gene symbol

EGFR

Gene constraints

LOEUF: 0.87, LOF (oe): 0.46, misssense (oe): 0.74, synonymous (oe): 1.07 ? (gnomAD)

Ensembl transcript ID

ENST00000450046.2

Genbank transcript ID

NM_001346900 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2210C>A
g.162362C>A

AA changes

AAE:	T737K	?
Score:	78

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		737	G	I	C	L	T	S	T	V	Q	L	I	T	Q	L	M	P	F	G	C	L	L	D	Y	V
mutated	not conserved	737	G	I	C	L	T	S	T	V	Q	L	I	K	Q	L	M	P	F	G	C	L	L	D	Y
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	9.289	1
	4.946	1
(flanking)	-2.19	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

1

Original gDNA sequence snippet

CTCCACCGTGCAGCTCATCACGCAGCTCATGCCCTTCGGCT

Altered gDNA sequence snippet

CTCCACCGTGCAGCTCATCAAGCAGCTCATGCCCTTCGGCT

Original cDNA sequence snippet

CTCCACCGTGCAGCTCATCACGCAGCTCATGCCCTTCGGCT

Altered cDNA sequence snippet

CTCCACCGTGCAGCTCATCAAGCAGCTCATGCCCTTCGGCT

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 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 STVQLIKQLM 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*

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

3781 / 3781

Position of start ATG in wt / mu cDNA

308 / 308

Last intron/exon boundary

3419

Theoretical NMD boundary in CDS

3061

Length of CDS

3474

Coding sequence (CDS) position

2210

cDNA position

2517

gDNA position

162362

Chromosomal position

55181378

Speed

0.13 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
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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