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: ENST00000306749
Querying Taster for transcript #2: ENST00000634990
MT speed 0.18 s - this script 2.622561 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Prediction problem	Splice site change	Known ClinVar disease mutation	Potential ClinVar disease mutation	Amino acid changes	Variant type	dbSNP ID	Protein length	Features at a glance
ENST00000306749(MANE Select)	FASN	Deleterious	61\|39	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected
ENST00000634990	FASN	Deleterious	65\|35	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Heterozygous in gnomAD

MutationT@ster 2025

Variant:

17:82090395G>A_1_ENST00000306749

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 61|39 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:82090395G>A (GRCh38)

Gene symbol

FASN

Gene constraints

LOEUF: 0.28, LOF (oe): 0.22, misssense (oe): 0.91, synonymous (oe): 1.25 ? (gnomAD)

Ensembl transcript ID

ENST00000306749.4

Genbank transcript ID

NM_004104 (exact from MANE)

UniProt / AlphaMissense peptide

FAS_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1850C>T
g.7900C>T

AA changes

AAE:	P617L	?
Score:	98

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs45444391
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	6	2196	2202

Protein conservation

Species	Match	AA	Alignment
Human		617	R	G	Q	C	I	K	E	A	H	L	P	P	G	A	M	A	A	V	G	L	S	W	E	E
mutated	not conserved	617	R	G	Q	C	I	K	E	A	H	L	P	L	G	A	M	A	A	V	G	L	S	W	E
Ptroglodytes	all identical	617	R	G	Q	C	I	K	E	A	H	L	P	P	G	A	M	A	A	V	G	L	S	W	E
Mmulatta	all identical	683	R	G	Q	C	I	K	E	A	H	L	P	P	G	A	M	A	A	V	G	L	S	W	E
Fcatus	all identical	757	R	G	Q	C	I	K	E	T	N	I	P	P	G	T	M	A	A	V	G	L	S	W	E
Mmusculus	all identical	617	R	G	Q	C	I	K	D	A	H	L	P	P	G	S	M	A	A	V	G	L	S	W	E
Ggallus	all identical	679	R	G	R	C	V	K	E	A	K	L	P	P	G	G	M	A	A	V	G	L	T	W	E
Trubripes	not conserved	617	R	G	R	C	I	K	E	A	S	L	P	L	G	G	M	A	A	I	G	M	T	W	E
Drerio	no homologue
Dmelanogaster	not conserved	757	R	G	K	S	I	L	D	T	Q	L	A	K	G	K	M	A	A	V	G	L	S	W	E
Celegans	not conserved	657	R	G	T	T	I	M	K	H	T	E	I	K	G	A	M	A	A	V	G	L	T	W	E
Xtropicalis	all identical	632	R	G	R	C	I	K	E	A	H	L	P	P	G	G	M	A	A	V	G	L	T	W	A

Protein features

Start (aa)	End (aa)	Feature	Details
1	2511	CHAIN		lost
429	817	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-5.582	0
	3.893	0.916
(flanking)	1.152	0.752

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

21

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

CAAAGAAGCCCATCTCCCGCCGGGCGCCATGGCAGCCGTGG

Altered gDNA sequence snippet

CAAAGAAGCCCATCTCCCGCTGGGCGCCATGGCAGCCGTGG

Original cDNA sequence snippet

CAAAGAAGCCCATCTCCCGCCGGGCGCCATGGCAGCCGTGG

Altered cDNA sequence snippet

CAAAGAAGCCCATCTCCCGCTGGGCGCCATGGCAGCCGTGG

Wildtype AA sequence

MEEVVIAGMS GKLPESENLQ EFWDNLIGGV DMVTDDDRRW KAGLYGLPRR SGKLKDLSRF
DASFFGVHPK QAHTMDPQLR LLLEVTYEAI VDGGINPDSL RGTHTGVWVG VSGSETSEAL
SRDPETLVGY SMVGCQRAMM ANRLSFFFDF RGPSIALDTA CSSSLMALQN AYQAIHSGQC
PAAIVGGINV LLKPNTSVQF LRLGMLSPEG TCKAFDTAGN GYCRSEGVVA VLLTKKSLAR
RVYATILNAG TNTDGFKEQG VTFPSGDIQE QLIRSLYQSA GVAPESFEYI EAHGTGTKVG
DPQELNGITR ALCATRQEPL LIGSTKSNMG HPEPASGLAA LAKVLLSLEH GLWAPNLHFH
SPNPEIPALL DGRLQVVDQP LPVRGGNVGI NSFGFGGSNV HIILRPNTQP PPAPAPHATL
PRLLRASGRT PEAVQKLLEQ GLRHSQDLAF LSMLNDIAAV PATAMPFRGY AVLGGERGGP
EVQQVPAGER PLWFICSGMG TQWRGMGLSL MRLDRFRDSI LRSDEAVKPF GLKVSQLLLS
TDESTFDDIV HSFVSLTAIQ IGLIDLLSCM GLRPDGIVGH SLGEVACGYA DGCLSQEEAV
LAAYWRGQCI KEAHLPPGAM AAVGLSWEEC KQRCPPGVVP ACHNSKDTVT ISGPQAPVFE
FVEQLRKEGV FAKEVRTGGM AFHSYFMEAI APPLLQELKK VIREPKPRSA RWLSTSIPEA
QWHSSLARTS SAEYNVNNLV SPVLFQEALW HVPEHAVVLE IAPHALLQAV LKRGLKPSCT
IIPLMKKDHR DNLEFFLAGI GRLHLSGIDA NPNALFPPVE FPAPRGTPLI SPLIKWDHSL
AWDVPAAEDF PNGSGSPSAA IYNIDTSSES PDHYLVDHTL DGRVLFPATG YLSIVWKTLA
RALGLGVEQL PVVFEDVVLH QATILPKTGT VSLEVRLLEA SRAFEVSENG NLVVSGKVYQ
WDDPDPRLFD HPESPTPNPT EPLFLAQAEV YKELRLRGYD YGPHFQGILE ASLEGDSGRL
LWKDNWVSFM DTMLQMSILG SAKHGLYLPT RVTAIHIDPA THRQKLYTLQ DKAQVADVVV
SRWLRVTVAG GVHISGLHTE SAPRRQQEQQ VPILEKFCFT PHTEEGCLSE RAALQEELQL
CKGLVQALQT KVTQQGLKMV VPGLDGAQIP RDPSQQELPR LLSAACRLQL NGNLQLELAQ
VLAQERPKLP EDPLLSGLLD SPALKACLDT AVENMPSLKM KVVEVLAGHG HLYSRIPGLL
SPHPLLQLSY TATDRHPQAL EAAQAELQQH DVAQGQWDPA DPAPSALGSA DLLVCNCAVA
ALGDPASALS NMVAALREGG FLLLHTLLRG HPLGDIVAFL TSTEPQYGQG ILSQDAWESL
FSRVSLRLVG LKKSFYGSTL FLCRRPTPQD SPIFLPVDDT SFRWVESLKG ILADEDSSRP
VWLKAINCAT SGVVGLVNCL RREPGGNRLR CVLLSNLSST SHVPEVDPGS AELQKVLQGD
LVMNVYRDGA WGAFRHFLLE EDKPEEPTAH AFVSTLTRGD LSSIRWVCSS LRHAQPTCPG
AQLCTVYYAS LNFRDIMLAT GKLSPDAIPG KWTSQDSLLG MEFSGRDASG KRVMGLVPAK
GLATSVLLSP DFLWDVPSNW TLEEAASVPV VYSTAYYALV VRGRVRPGET LLIHSGSGGV
GQAAIAIALS LGCRVFTTVG SAEKRAYLQA RFPQLDSTSF ANSRDTSFEQ HVLWHTGGKG
VDLVLNSLAE EKLQASVRCL ATHGRFLEIG KFDLSQNHPL GMAIFLKNVT FHGVLLDAFF
NESSADWREV WALVQAGIRD GVVRPLKCTV FHGAQVEDAF RYMAQGKHIG KVVVQVLAEE
PEAVLKGAKP KLMSAISKTF CPAHKSYIIA GGLGGFGLEL AQWLIQRGVQ KLVLTSRSGI
RTGYQAKQVR RWRRQGVQVQ VSTSNISSLE GARGLIAEAA QLGPVGGVFN LAVVLRDGLL
ENQTPEFFQD VCKPKYSGTL NLDRVTREAC PELDYFVVFS SVSCGRGNAG QSNYGFANSA
MERICEKRRH EGLPGLAVQW GAIGDVGILV ETMSTNDTIV SGTLPQRMAS CLEVLDLFLN
QPHMVLSSFV LAEKAAAYRD RDSQRDLVEA VAHILGIRDL AAVNLDSSLA DLGLDSLMSV
EVRQTLEREL NLVLSVREVR QLTLRKLQEL SSKADEASEL ACPTPKEDGL AQQQTQLNLR
SLLVNPEGPT LMRLNSVQSS ERPLFLVHPI EGSTTVFHSL ASRLSIPTYG LQCTRAAPLD
SIHSLAAYYI DCIRQVQPEG PYRVAGYSYG ACVAFEMCSQ LQAQQSPAPT HNSLFLFDGS
PTYVLAYTQS YRAKLTPGCE AEAETEAICF FVQQFTDMEH NRVLEALLPL KGLEERVAAA
VDLIIKSHQG LDRQELSFAA RSFYYKLRAA EQYTPKAKYH GNVMLLRAKT GGAYGEDLGA
DYNLSQVCDG KVSVHVIEGD HRTLLEGSGL ESIISIIHSS LAEPRVSVRE G*

Mutated AA sequence

MEEVVIAGMS GKLPESENLQ EFWDNLIGGV DMVTDDDRRW KAGLYGLPRR SGKLKDLSRF
DASFFGVHPK QAHTMDPQLR LLLEVTYEAI VDGGINPDSL RGTHTGVWVG VSGSETSEAL
SRDPETLVGY SMVGCQRAMM ANRLSFFFDF RGPSIALDTA CSSSLMALQN AYQAIHSGQC
PAAIVGGINV LLKPNTSVQF LRLGMLSPEG TCKAFDTAGN GYCRSEGVVA VLLTKKSLAR
RVYATILNAG TNTDGFKEQG VTFPSGDIQE QLIRSLYQSA GVAPESFEYI EAHGTGTKVG
DPQELNGITR ALCATRQEPL LIGSTKSNMG HPEPASGLAA LAKVLLSLEH GLWAPNLHFH
SPNPEIPALL DGRLQVVDQP LPVRGGNVGI NSFGFGGSNV HIILRPNTQP PPAPAPHATL
PRLLRASGRT PEAVQKLLEQ GLRHSQDLAF LSMLNDIAAV PATAMPFRGY AVLGGERGGP
EVQQVPAGER PLWFICSGMG TQWRGMGLSL MRLDRFRDSI LRSDEAVKPF GLKVSQLLLS
TDESTFDDIV HSFVSLTAIQ IGLIDLLSCM GLRPDGIVGH SLGEVACGYA DGCLSQEEAV
LAAYWRGQCI KEAHLPLGAM AAVGLSWEEC KQRCPPGVVP ACHNSKDTVT ISGPQAPVFE
FVEQLRKEGV FAKEVRTGGM AFHSYFMEAI APPLLQELKK VIREPKPRSA RWLSTSIPEA
QWHSSLARTS SAEYNVNNLV SPVLFQEALW HVPEHAVVLE IAPHALLQAV LKRGLKPSCT
IIPLMKKDHR DNLEFFLAGI GRLHLSGIDA NPNALFPPVE FPAPRGTPLI SPLIKWDHSL
AWDVPAAEDF PNGSGSPSAA IYNIDTSSES PDHYLVDHTL DGRVLFPATG YLSIVWKTLA
RALGLGVEQL PVVFEDVVLH QATILPKTGT VSLEVRLLEA SRAFEVSENG NLVVSGKVYQ
WDDPDPRLFD HPESPTPNPT EPLFLAQAEV YKELRLRGYD YGPHFQGILE ASLEGDSGRL
LWKDNWVSFM DTMLQMSILG SAKHGLYLPT RVTAIHIDPA THRQKLYTLQ DKAQVADVVV
SRWLRVTVAG GVHISGLHTE SAPRRQQEQQ VPILEKFCFT PHTEEGCLSE RAALQEELQL
CKGLVQALQT KVTQQGLKMV VPGLDGAQIP RDPSQQELPR LLSAACRLQL NGNLQLELAQ
VLAQERPKLP EDPLLSGLLD SPALKACLDT AVENMPSLKM KVVEVLAGHG HLYSRIPGLL
SPHPLLQLSY TATDRHPQAL EAAQAELQQH DVAQGQWDPA DPAPSALGSA DLLVCNCAVA
ALGDPASALS NMVAALREGG FLLLHTLLRG HPLGDIVAFL TSTEPQYGQG ILSQDAWESL
FSRVSLRLVG LKKSFYGSTL FLCRRPTPQD SPIFLPVDDT SFRWVESLKG ILADEDSSRP
VWLKAINCAT SGVVGLVNCL RREPGGNRLR CVLLSNLSST SHVPEVDPGS AELQKVLQGD
LVMNVYRDGA WGAFRHFLLE EDKPEEPTAH AFVSTLTRGD LSSIRWVCSS LRHAQPTCPG
AQLCTVYYAS LNFRDIMLAT GKLSPDAIPG KWTSQDSLLG MEFSGRDASG KRVMGLVPAK
GLATSVLLSP DFLWDVPSNW TLEEAASVPV VYSTAYYALV VRGRVRPGET LLIHSGSGGV
GQAAIAIALS LGCRVFTTVG SAEKRAYLQA RFPQLDSTSF ANSRDTSFEQ HVLWHTGGKG
VDLVLNSLAE EKLQASVRCL ATHGRFLEIG KFDLSQNHPL GMAIFLKNVT FHGVLLDAFF
NESSADWREV WALVQAGIRD GVVRPLKCTV FHGAQVEDAF RYMAQGKHIG KVVVQVLAEE
PEAVLKGAKP KLMSAISKTF CPAHKSYIIA GGLGGFGLEL AQWLIQRGVQ KLVLTSRSGI
RTGYQAKQVR RWRRQGVQVQ VSTSNISSLE GARGLIAEAA QLGPVGGVFN LAVVLRDGLL
ENQTPEFFQD VCKPKYSGTL NLDRVTREAC PELDYFVVFS SVSCGRGNAG QSNYGFANSA
MERICEKRRH EGLPGLAVQW GAIGDVGILV ETMSTNDTIV SGTLPQRMAS CLEVLDLFLN
QPHMVLSSFV LAEKAAAYRD RDSQRDLVEA VAHILGIRDL AAVNLDSSLA DLGLDSLMSV
EVRQTLEREL NLVLSVREVR QLTLRKLQEL SSKADEASEL ACPTPKEDGL AQQQTQLNLR
SLLVNPEGPT LMRLNSVQSS ERPLFLVHPI EGSTTVFHSL ASRLSIPTYG LQCTRAAPLD
SIHSLAAYYI DCIRQVQPEG PYRVAGYSYG ACVAFEMCSQ LQAQQSPAPT HNSLFLFDGS
PTYVLAYTQS YRAKLTPGCE AEAETEAICF FVQQFTDMEH NRVLEALLPL KGLEERVAAA
VDLIIKSHQG LDRQELSFAA RSFYYKLRAA EQYTPKAKYH GNVMLLRAKT GGAYGEDLGA
DYNLSQVCDG KVSVHVIEGD HRTLLEGSGL ESIISIIHSS LAEPRVSVRE G*

Position of stopcodon in wt / mu CDS

7536 / 7536

Position (AA) of stopcodon in wt / mu AA sequence

2512 / 2512

Position of stopcodon in wt / mu cDNA

7659 / 7659

Position of start ATG in wt / mu cDNA

124 / 124

Last intron/exon boundary

7521

Theoretical NMD boundary in CDS

7347

Length of CDS

7536

Coding sequence (CDS) position

1850

cDNA position

1973

gDNA position

7900

Chromosomal position

82090395

Speed

0.08 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:

17:82090395G>A_2_ENST00000634990

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD

Model: simple_aae
Tree vote: 65|35 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:82090395G>A (GRCh38)

Gene symbol

FASN

Gene constraints

LOEUF: 0.28, LOF (oe): 0.22, misssense (oe): 0.91, synonymous (oe): 1.25 ? (gnomAD)

Ensembl transcript ID

ENST00000634990.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1850C>T
g.7900C>T

AA changes

AAE:	P617L	?
Score:	98

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs45444391
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	6	2196	2202

Protein conservation

Species	Match	AA	Alignment
Human		617	R	G	Q	C	I	K	E	A	H	L	P	P	G	A	M	A	A	V	G	L	S	W	E	E
mutated	not conserved	617	R	G	Q	C	I	K	E	A	H	L	P	L	G	A	M	A	A	V	G	L	S	W	E
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)	-5.582	0
	3.893	0.916
(flanking)	1.152	0.752

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

21

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

CAAAGAAGCCCATCTCCCGCCGGGCGCCATGGCAGCCGTGG

Altered gDNA sequence snippet

CAAAGAAGCCCATCTCCCGCTGGGCGCCATGGCAGCCGTGG

Original cDNA sequence snippet

CAAAGAAGCCCATCTCCCGCCGGGCGCCATGGCAGCCGTGG

Altered cDNA sequence snippet

CAAAGAAGCCCATCTCCCGCTGGGCGCCATGGCAGCCGTGG

Wildtype AA sequence

MEEVVIAGMS GKLPESENLQ EFWDNLIGGV DMVTDDDRRW KAGLYGLPRR SGKLKDLSRF
DASFFGVHPK QAHTMDPQLR LLLEVTYEAI VDGGINPDSL RGTHTGVWVG VSGSETSEAL
SRDPETLVGY SMVGCQRAMM ANRLSFFFDF RGPSIALDTA CSSSLMALQN AYQAIHSGQC
PAAIVGGINV LLKPNTSVQF LRLGMLSPEG TCKAFDTAGN GYCRSEGVVA VLLTKKSLAR
RVYATILNAG TNTDGFKEQG VTFPSGDIQE QLIRSLYQSA GVAPESFEYI EAHGTGTKVG
DPQELNGITR ALCATRQEPL LIGSTKSNMG HPEPASGLAA LAKVLLSLEH GLWAPNLHFH
SPNPEIPALL DGRLQVVDQP LPVRGGNVGI NSFGFGGSNV HIILRPNTQP PPAPAPHATL
PRLLRASGRT PEAVQKLLEQ GLRHSQDLAF LSMLNDIAAV PATAMPFRGY AVLGGERGGP
EVQQVPAGER PLWFICSGMG TQWRGMGLSL MRLDRFRDSI LRSDEAVKPF GLKVSQLLLS
TDESTFDDIV HSFVSLTAIQ IGLIDLLSCM GLRPDGIVGH SLGEVACGYA DGCLSQEEAV
LAAYWRGQCI KEAHLPPGAM AAVGLSWEEC KQRCPPGVVP ACHNSKDTVT ISGPQAPVFE
FVEQLRKEGV FAKEVRTGGM AFHSYFMEAI APPLLQELKK VIREPKPRSA RWLSTSIPEA
QWHSSLARTS SAEYNVNNLV SPVLFQEALW HVPEHAVVLE IAPHALLQAV LKRGLKPSCT
IIPLMKKDHR DNLEFFLAGI GRLHLSGIDA NPNALFPPVE FPAPRGTPLI SPLIKWDHSL
AWDVPAAEDF PNGSGSPSAA IYNIDTSSES PDHYLVDHTL DGRVLFPATG YLSIVWKTLA
RALGLGVEQL PVVFEDVVLH QATILPKTGT VSLEVRLLEA SRAFEVSENG NLVVSGKVYQ
WDDPDPRLFD HPESPTPNPT EPLFLAQAEV YKELRLRGYD YGPHFQGILE ASLEGDSGRL
LWKDNWVSFM DTMLQMSILG SAKHGLYLPT RVTAIHIDPA THRQKLYTLQ DKAQVADVVV
SRWLRVTVAG GVHISGLHTE SAPRRQQEQQ VPILEKFCFT PHTEEGCLSE RAALQEELQL
CKGLVQALQT KVTQQGLKMV VPGLDGAQIP RDPSQQELPR LLSAACRLQL NGNLQLELAQ
VLAQERPKLP EDPLLSGLLD SPALKACLDT AVENMPSLKM KVVLAGHGHL YSRIPGLLSP
HPLLQLSYTA TDRHPQALEA AQAELQQHDV AQGQWDPADP APSALGSADL LVCNCAVAAL
GDPASALSNM VAALREGGFL LLHTLLRGHP LGDIVAFLTS TEPQYGQGIL SQDAWESLFS
RVSLRLVGLK KSFYGSTLFL CRRPTPQDSP IFLPVDDTSF RWVESLKGIL ADEDSSRPVW
LKAINCATSG VVGLVNCLRR EPGGNRLRCV LLSNLSSTSH VPEVDPGSAE LQKVLQGDLV
MNVYRDGAWG AFRHFLLEED KPEEPTAHAF VSTLTRGDLS SIRWVCSSLR HAQPTCPGAQ
LCTVYYASLN FRDIMLATGK LSPDAIPGKW TSQDSLLGME FSGRDASGKR VMGLVPAKGL
ATSVLLSPDF LWDVPSNWTL EEAASVPVVY STAYYALVVR GRVRPGETLL IHSGSGGVGQ
AAIAIALSLG CRVFTTVGSA EKRAYLQARF PQLDSTSFAN SRDTSFEQHV LWHTGGKGVD
LVLNSLAEEK LQASVRCLAT HGRFLEIGKF DLSQNHPLGM AIFLKNVTFH GVLLDAFFNE
SSADWREVWA LVQAGIRDGV VRPLKCTVFH GAQVEDAFRY MAQGKHIGKV VVQVLAEEPE
AVLKGAKPKL MSAISKTFCP AHKSYIIAGG LGGFGLELAQ WLIQRGVQKL VLTSRSGIRT
GYQAKQVRRW RRQGVQVQVS TSNISSLEGA RGLIAEAAQL GPVGGVFNLA VVLRDGLLEN
QTPEFFQDVC KPKYSGTLNL DRVTREACPE LDYFVVFSSV SCGRGNAGQS NYGFANSAME
RICEKRRHEG LPGLAVQWGA IGDVGILVET MSTNDTIVSG TLPQRMASCL EVLDLFLNQP
HMVLSSFVLA EKAAAYRDRD SQRDLVEAVA HILGIRDLAA VNLDSSLADL GLDSLMSVEV
RQTLERELNL VLSVREVRQL TLRKLQELSS KADEASELAC PTPKEDGLAQ QQTQLNLRSL
LVNPEGPTLM RLNSVQSSER PLFLVHPIEG STTVFHSLAS RLSIPTYGLQ CTRAAPLDSI
HSLAAYYIDC IRQVQPEGPY RVAGYSYGAC VAFEMCSQLQ AQQSPAPTHN SLFLFDGSPT
YVLAYTQSYR AKLTPGCEAE AETEAICFFV QQFTDMEHNR VLEALLPLKG LEERVAAAVD
LIIKSHQGLD RQELSFAARS FYYKLRAAEQ YTPKAKYHGN VMLLRAKTGG AYGEDLGADY
NLSQVCDGKV SVHVIEGDHR TLLEGSGLES IISIIHSSLA EPRVSVREG*

Mutated AA sequence

MEEVVIAGMS GKLPESENLQ EFWDNLIGGV DMVTDDDRRW KAGLYGLPRR SGKLKDLSRF
DASFFGVHPK QAHTMDPQLR LLLEVTYEAI VDGGINPDSL RGTHTGVWVG VSGSETSEAL
SRDPETLVGY SMVGCQRAMM ANRLSFFFDF RGPSIALDTA CSSSLMALQN AYQAIHSGQC
PAAIVGGINV LLKPNTSVQF LRLGMLSPEG TCKAFDTAGN GYCRSEGVVA VLLTKKSLAR
RVYATILNAG TNTDGFKEQG VTFPSGDIQE QLIRSLYQSA GVAPESFEYI EAHGTGTKVG
DPQELNGITR ALCATRQEPL LIGSTKSNMG HPEPASGLAA LAKVLLSLEH GLWAPNLHFH
SPNPEIPALL DGRLQVVDQP LPVRGGNVGI NSFGFGGSNV HIILRPNTQP PPAPAPHATL
PRLLRASGRT PEAVQKLLEQ GLRHSQDLAF LSMLNDIAAV PATAMPFRGY AVLGGERGGP
EVQQVPAGER PLWFICSGMG TQWRGMGLSL MRLDRFRDSI LRSDEAVKPF GLKVSQLLLS
TDESTFDDIV HSFVSLTAIQ IGLIDLLSCM GLRPDGIVGH SLGEVACGYA DGCLSQEEAV
LAAYWRGQCI KEAHLPLGAM AAVGLSWEEC KQRCPPGVVP ACHNSKDTVT ISGPQAPVFE
FVEQLRKEGV FAKEVRTGGM AFHSYFMEAI APPLLQELKK VIREPKPRSA RWLSTSIPEA
QWHSSLARTS SAEYNVNNLV SPVLFQEALW HVPEHAVVLE IAPHALLQAV LKRGLKPSCT
IIPLMKKDHR DNLEFFLAGI GRLHLSGIDA NPNALFPPVE FPAPRGTPLI SPLIKWDHSL
AWDVPAAEDF PNGSGSPSAA IYNIDTSSES PDHYLVDHTL DGRVLFPATG YLSIVWKTLA
RALGLGVEQL PVVFEDVVLH QATILPKTGT VSLEVRLLEA SRAFEVSENG NLVVSGKVYQ
WDDPDPRLFD HPESPTPNPT EPLFLAQAEV YKELRLRGYD YGPHFQGILE ASLEGDSGRL
LWKDNWVSFM DTMLQMSILG SAKHGLYLPT RVTAIHIDPA THRQKLYTLQ DKAQVADVVV
SRWLRVTVAG GVHISGLHTE SAPRRQQEQQ VPILEKFCFT PHTEEGCLSE RAALQEELQL
CKGLVQALQT KVTQQGLKMV VPGLDGAQIP RDPSQQELPR LLSAACRLQL NGNLQLELAQ
VLAQERPKLP EDPLLSGLLD SPALKACLDT AVENMPSLKM KVVLAGHGHL YSRIPGLLSP
HPLLQLSYTA TDRHPQALEA AQAELQQHDV AQGQWDPADP APSALGSADL LVCNCAVAAL
GDPASALSNM VAALREGGFL LLHTLLRGHP LGDIVAFLTS TEPQYGQGIL SQDAWESLFS
RVSLRLVGLK KSFYGSTLFL CRRPTPQDSP IFLPVDDTSF RWVESLKGIL ADEDSSRPVW
LKAINCATSG VVGLVNCLRR EPGGNRLRCV LLSNLSSTSH VPEVDPGSAE LQKVLQGDLV
MNVYRDGAWG AFRHFLLEED KPEEPTAHAF VSTLTRGDLS SIRWVCSSLR HAQPTCPGAQ
LCTVYYASLN FRDIMLATGK LSPDAIPGKW TSQDSLLGME FSGRDASGKR VMGLVPAKGL
ATSVLLSPDF LWDVPSNWTL EEAASVPVVY STAYYALVVR GRVRPGETLL IHSGSGGVGQ
AAIAIALSLG CRVFTTVGSA EKRAYLQARF PQLDSTSFAN SRDTSFEQHV LWHTGGKGVD
LVLNSLAEEK LQASVRCLAT HGRFLEIGKF DLSQNHPLGM AIFLKNVTFH GVLLDAFFNE
SSADWREVWA LVQAGIRDGV VRPLKCTVFH GAQVEDAFRY MAQGKHIGKV VVQVLAEEPE
AVLKGAKPKL MSAISKTFCP AHKSYIIAGG LGGFGLELAQ WLIQRGVQKL VLTSRSGIRT
GYQAKQVRRW RRQGVQVQVS TSNISSLEGA RGLIAEAAQL GPVGGVFNLA VVLRDGLLEN
QTPEFFQDVC KPKYSGTLNL DRVTREACPE LDYFVVFSSV SCGRGNAGQS NYGFANSAME
RICEKRRHEG LPGLAVQWGA IGDVGILVET MSTNDTIVSG TLPQRMASCL EVLDLFLNQP
HMVLSSFVLA EKAAAYRDRD SQRDLVEAVA HILGIRDLAA VNLDSSLADL GLDSLMSVEV
RQTLERELNL VLSVREVRQL TLRKLQELSS KADEASELAC PTPKEDGLAQ QQTQLNLRSL
LVNPEGPTLM RLNSVQSSER PLFLVHPIEG STTVFHSLAS RLSIPTYGLQ CTRAAPLDSI
HSLAAYYIDC IRQVQPEGPY RVAGYSYGAC VAFEMCSQLQ AQQSPAPTHN SLFLFDGSPT
YVLAYTQSYR AKLTPGCEAE AETEAICFFV QQFTDMEHNR VLEALLPLKG LEERVAAAVD
LIIKSHQGLD RQELSFAARS FYYKLRAAEQ YTPKAKYHGN VMLLRAKTGG AYGEDLGADY
NLSQVCDGKV SVHVIEGDHR TLLEGSGLES IISIIHSSLA EPRVSVREG*

Position of stopcodon in wt / mu CDS

7530 / 7530

Position (AA) of stopcodon in wt / mu AA sequence

2510 / 2510

Position of stopcodon in wt / mu cDNA

7604 / 7604

Position of start ATG in wt / mu cDNA

75 / 75

Last intron/exon boundary

7466

Theoretical NMD boundary in CDS

7341

Length of CDS

7530

Coding sequence (CDS) position

1850

cDNA position

1924

gDNA position

7900

Chromosomal position

82090395

Speed

0.10 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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