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: ENST00000374736
Querying Taster for transcript #2: ENST00000678995
MT speed 0.12 s - this script 2.547759 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
ENST00000374736(MANE Select)	ABCA1	Deleterious	87\|13	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected
ENST00000678995	ABCA1	Deleterious	92\|8	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Heterozygous in gnomAD

MutationT@ster 2025

Variant:

9:104822664C>A_1_ENST00000374736

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

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

Model: simple_aae
Tree vote: 87|13 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr9:104822664C>A (GRCh38)

Gene symbol

ABCA1

Gene constraints

LOEUF: 0.56, LOF (oe): 0.49, misssense (oe): 0.84, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000374736.8

Genbank transcript ID

NM_005502 (exact from MANE)

UniProt / AlphaMissense peptide

ABCA1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2660G>T
g.105492G>T

AA changes

AAE:	C887F	?
Score:	205

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs187652566
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	2	638	640

Protein conservation

Species	Match	AA	Alignment
Human		887	P	G	S	N	Q	K	R	I	S	E	I	C	M	E	E	E	P	T	H	L	K	L	G	V
mutated	not conserved	887	P	G	S	N	Q	K	R	I	S	E	I	F	M	E	E	E	P	T	H	L	K	L	G
Ptroglodytes	all identical	887	P	G	S	S	Q	K	R	M	S	E	I	C	M	E	E	E	P	T	H	L	K	L	G
Mmulatta	all identical	887	P	G	S	N	Q	K	R	M	S	E	I	C	M	E	E	E	P	T	H	L	K	L	G
Fcatus	all identical	887	P	G	S	S	Q	K	G	I	S	E	I	C	M	E	E	E	P	T	H	L	K	L	G
Mmusculus	all identical	887	P	G	S	S	Q	K	G	V	S	E	I	C	M	E	E	E	P	T	H	L	R	L	G
Ggallus	all identical	895	L	H	P	D	Q	K	G	P	S	E	V	C	K	E	E	E	P	M	H	L	S	L	G
Trubripes	all identical	891	L	S	K	G	N	A	E	G	T	N	L	C	I	E	E
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	891	P	H	T	V	Q	K	G	S	S	E	V	C	M	E	E	E	P	S	H	L	P

Protein features

Start (aa)	End (aa)	Feature	Details
1	2261	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.072	1
	6.17	1
(flanking)	7.515	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

4

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

9

Strand

-1

Original gDNA sequence snippet

CTTCTCTCCTGTCACAGTCTGCATGGAGGAGGAACCCACCC

Altered gDNA sequence snippet

CTTCTCTCCTGTCACAGTCTTCATGGAGGAGGAACCCACCC

Original cDNA sequence snippet

GAAGAGAATATCAGAAATCTGCATGGAGGAGGAACCCACCC

Altered cDNA sequence snippet

GAAGAGAATATCAGAAATCTTCATGGAGGAGGAACCCACCC

Wildtype AA sequence

MACWPQLRLL LWKNLTFRRR QTCQLLLEVA WPLFIFLILI SVRLSYPPYE QHECHFPNKA
MPSAGTLPWV QGIICNANNP CFRYPTPGEA PGVVGNFNKS IVARLFSDAR RLLLYSQKDT
SMKDMRKVLR TLQQIKKSSS NLKLQDFLVD NETFSGFLYH NLSLPKSTVD KMLRADVILH
KVFLQGYQLH LTSLCNGSKS EEMIQLGDQE VSELCGLPRE KLAAAERVLR SNMDILKPIL
RTLNSTSPFP SKELAEATKT LLHSLGTLAQ ELFSMRSWSD MRQEVMFLTN VNSSSSSTQI
YQAVSRIVCG HPEGGGLKIK SLNWYEDNNY KALFGGNGTE EDAETFYDNS TTPYCNDLMK
NLESSPLSRI IWKALKPLLV GKILYTPDTP ATRQVMAEVN KTFQELAVFH DLEGMWEELS
PKIWTFMENS QEMDLVRMLL DSRDNDHFWE QQLDGLDWTA QDIVAFLAKH PEDVQSSNGS
VYTWREAFNE TNQAIRTISR FMECVNLNKL EPIATEVWLI NKSMELLDER KFWAGIVFTG
ITPGSIELPH HVKYKIRMDI DNVERTNKIK DGYWDPGPRA DPFEDMRYVW GGFAYLQDVV
EQAIIRVLTG TEKKTGVYMQ QMPYPCYVDD IFLRVMSRSM PLFMTLAWIY SVAVIIKGIV
YEKEARLKET MRIMGLDNSI LWFSWFISSL IPLLVSAGLL VVILKLGNLL PYSDPSVVFV
FLSVFAVVTI LQCFLISTLF SRANLAAACG GIIYFTLYLP YVLCVAWQDY VGFTLKIFAS
LLSPVAFGFG CEYFALFEEQ GIGVQWDNLF ESPVEEDGFN LTTSVSMMLF DTFLYGVMTW
YIEAVFPGQY GIPRPWYFPC TKSYWFGEES DEKSHPGSNQ KRISEICMEE EPTHLKLGVS
IQNLVKVYRD GMKVAVDGLA LNFYEGQITS FLGHNGAGKT TTMSILTGLF PPTSGTAYIL
GKDIRSEMST IRQNLGVCPQ HNVLFDMLTV EEHIWFYARL KGLSEKHVKA EMEQMALDVG
LPSSKLKSKT SQLSGGMQRK LSVALAFVGG SKVVILDEPT AGVDPYSRRG IWELLLKYRQ
GRTIILSTHH MDEADVLGDR IAIISHGKLC CVGSSLFLKN QLGTGYYLTL VKKDVESSLS
SCRNSSSTVS YLKKEDSVSQ SSSDAGLGSD HESDTLTIDV SAISNLIRKH VSEARLVEDI
GHELTYVLPY EAAKEGAFVE LFHEIDDRLS DLGISSYGIS ETTLEEIFLK VAEESGVDAE
TSDGTLPARR NRRAFGDKQS CLRPFTEDDA ADPNDSDIDP ESRETDLLSG MDGKGSYQVK
GWKLTQQQFV ALLWKRLLIA RRSRKGFFAQ IVLPAVFVCI ALVFSLIVPP FGKYPSLELQ
PWMYNEQYTF VSNDAPEDTG TLELLNALTK DPGFGTRCME GNPIPDTPCQ AGEEEWTTAP
VPQTIMDLFQ NGNWTMQNPS PACQCSSDKI KKMLPVCPPG AGGLPPPQRK QNTADILQDL
TGRNISDYLV KTYVQIIAKS LKNKIWVNEF RYGGFSLGVS NTQALPPSQE VNDAIKQMKK
HLKLAKDSSA DRFLNSLGRF MTGLDTKNNV KVWFNNKGWH AISSFLNVIN NAILRANLQK
GENPSHYGIT AFNHPLNLTK QQLSEVALMT TSVDVLVSIC VIFAMSFVPA SFVVFLIQER
VSKAKHLQFI SGVKPVIYWL SNFVWDMCNY VVPATLVIII FICFQQKSYV SSTNLPVLAL
LLLLYGWSIT PLMYPASFVF KIPSTAYVVL TSVNLFIGIN GSVATFVLEL FTDNKLNNIN
DILKSVFLIF PHFCLGRGLI DMVKNQAMAD ALERFGENRF VSPLSWDLVG RNLFAMAVEG
VVFFLITVLI QYRFFIRPRP VNAKLSPLND EDEDVRRERQ RILDGGGQND ILEIKELTKI
YRRKRKPAVD RICVGIPPGE CFGLLGVNGA GKSSTFKMLT GDTTVTRGDA FLNKNSILSN
IHEVHQNMGY CPQFDAITEL LTGREHVEFF ALLRGVPEKE VGKVGEWAIR KLGLVKYGEK
YAGNYSGGNK RKLSTAMALI GGPPVVFLDE PTTGMDPKAR RFLWNCALSV VKEGRSVVLT
SHSMEECEAL CTRMAIMVNG RFRCLGSVQH LKNRFGDGYT IVVRIAGSNP DLKPVQDFFG
LAFPGSVLKE KHRNMLQYQL PSSLSSLARI FSILSQSKKR LHIEDYSVSQ TTLDQVFVNF
AKDQSDDDHL KDLSLHKNQT VVDVAVLTSF LQDEKVKESY V*

Mutated AA sequence

MACWPQLRLL LWKNLTFRRR QTCQLLLEVA WPLFIFLILI SVRLSYPPYE QHECHFPNKA
MPSAGTLPWV QGIICNANNP CFRYPTPGEA PGVVGNFNKS IVARLFSDAR RLLLYSQKDT
SMKDMRKVLR TLQQIKKSSS NLKLQDFLVD NETFSGFLYH NLSLPKSTVD KMLRADVILH
KVFLQGYQLH LTSLCNGSKS EEMIQLGDQE VSELCGLPRE KLAAAERVLR SNMDILKPIL
RTLNSTSPFP SKELAEATKT LLHSLGTLAQ ELFSMRSWSD MRQEVMFLTN VNSSSSSTQI
YQAVSRIVCG HPEGGGLKIK SLNWYEDNNY KALFGGNGTE EDAETFYDNS TTPYCNDLMK
NLESSPLSRI IWKALKPLLV GKILYTPDTP ATRQVMAEVN KTFQELAVFH DLEGMWEELS
PKIWTFMENS QEMDLVRMLL DSRDNDHFWE QQLDGLDWTA QDIVAFLAKH PEDVQSSNGS
VYTWREAFNE TNQAIRTISR FMECVNLNKL EPIATEVWLI NKSMELLDER KFWAGIVFTG
ITPGSIELPH HVKYKIRMDI DNVERTNKIK DGYWDPGPRA DPFEDMRYVW GGFAYLQDVV
EQAIIRVLTG TEKKTGVYMQ QMPYPCYVDD IFLRVMSRSM PLFMTLAWIY SVAVIIKGIV
YEKEARLKET MRIMGLDNSI LWFSWFISSL IPLLVSAGLL VVILKLGNLL PYSDPSVVFV
FLSVFAVVTI LQCFLISTLF SRANLAAACG GIIYFTLYLP YVLCVAWQDY VGFTLKIFAS
LLSPVAFGFG CEYFALFEEQ GIGVQWDNLF ESPVEEDGFN LTTSVSMMLF DTFLYGVMTW
YIEAVFPGQY GIPRPWYFPC TKSYWFGEES DEKSHPGSNQ KRISEIFMEE EPTHLKLGVS
IQNLVKVYRD GMKVAVDGLA LNFYEGQITS FLGHNGAGKT TTMSILTGLF PPTSGTAYIL
GKDIRSEMST IRQNLGVCPQ HNVLFDMLTV EEHIWFYARL KGLSEKHVKA EMEQMALDVG
LPSSKLKSKT SQLSGGMQRK LSVALAFVGG SKVVILDEPT AGVDPYSRRG IWELLLKYRQ
GRTIILSTHH MDEADVLGDR IAIISHGKLC CVGSSLFLKN QLGTGYYLTL VKKDVESSLS
SCRNSSSTVS YLKKEDSVSQ SSSDAGLGSD HESDTLTIDV SAISNLIRKH VSEARLVEDI
GHELTYVLPY EAAKEGAFVE LFHEIDDRLS DLGISSYGIS ETTLEEIFLK VAEESGVDAE
TSDGTLPARR NRRAFGDKQS CLRPFTEDDA ADPNDSDIDP ESRETDLLSG MDGKGSYQVK
GWKLTQQQFV ALLWKRLLIA RRSRKGFFAQ IVLPAVFVCI ALVFSLIVPP FGKYPSLELQ
PWMYNEQYTF VSNDAPEDTG TLELLNALTK DPGFGTRCME GNPIPDTPCQ AGEEEWTTAP
VPQTIMDLFQ NGNWTMQNPS PACQCSSDKI KKMLPVCPPG AGGLPPPQRK QNTADILQDL
TGRNISDYLV KTYVQIIAKS LKNKIWVNEF RYGGFSLGVS NTQALPPSQE VNDAIKQMKK
HLKLAKDSSA DRFLNSLGRF MTGLDTKNNV KVWFNNKGWH AISSFLNVIN NAILRANLQK
GENPSHYGIT AFNHPLNLTK QQLSEVALMT TSVDVLVSIC VIFAMSFVPA SFVVFLIQER
VSKAKHLQFI SGVKPVIYWL SNFVWDMCNY VVPATLVIII FICFQQKSYV SSTNLPVLAL
LLLLYGWSIT PLMYPASFVF KIPSTAYVVL TSVNLFIGIN GSVATFVLEL FTDNKLNNIN
DILKSVFLIF PHFCLGRGLI DMVKNQAMAD ALERFGENRF VSPLSWDLVG RNLFAMAVEG
VVFFLITVLI QYRFFIRPRP VNAKLSPLND EDEDVRRERQ RILDGGGQND ILEIKELTKI
YRRKRKPAVD RICVGIPPGE CFGLLGVNGA GKSSTFKMLT GDTTVTRGDA FLNKNSILSN
IHEVHQNMGY CPQFDAITEL LTGREHVEFF ALLRGVPEKE VGKVGEWAIR KLGLVKYGEK
YAGNYSGGNK RKLSTAMALI GGPPVVFLDE PTTGMDPKAR RFLWNCALSV VKEGRSVVLT
SHSMEECEAL CTRMAIMVNG RFRCLGSVQH LKNRFGDGYT IVVRIAGSNP DLKPVQDFFG
LAFPGSVLKE KHRNMLQYQL PSSLSSLARI FSILSQSKKR LHIEDYSVSQ TTLDQVFVNF
AKDQSDDDHL KDLSLHKNQT VVDVAVLTSF LQDEKVKESY V*

Position of stopcodon in wt / mu CDS

6786 / 6786

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

2262 / 2262

Position of stopcodon in wt / mu cDNA

7099 / 7099

Position of start ATG in wt / mu cDNA

314 / 314

Last intron/exon boundary

6958

Theoretical NMD boundary in CDS

6594

Length of CDS

6786

Coding sequence (CDS) position

2660

cDNA position

2973

gDNA position

105492

Chromosomal position

104822664

Speed

0.06 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:

9:104822664C>A_2_ENST00000678995

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD

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

Analysed issue

Analysis result

Variant

Chr9:104822664C>A (GRCh38)

Gene symbol

ABCA1

Gene constraints

LOEUF: 0.58, LOF (oe): 0.50, misssense (oe): 0.85, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000678995.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2660G>T
g.105492G>T

AA changes

AAE:	C887F	?
Score:	205

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs187652566
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	2	638	640

Protein conservation

Species	Match	AA	Alignment
Human		887	P	G	S	N	Q	K	R	I	S	E	I	C	M	E	E	E	P	T	H	L	K	L	G	V
mutated	not conserved	887	P	G	S	N	Q	K	R	I	S	E	I	F	M	E	E	E	P	T	H	L	K	L	G
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)	3.072	1
	6.17	1
(flanking)	7.515	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

4

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

9

Strand

-1

Original gDNA sequence snippet

CTTCTCTCCTGTCACAGTCTGCATGGAGGAGGAACCCACCC

Altered gDNA sequence snippet

CTTCTCTCCTGTCACAGTCTTCATGGAGGAGGAACCCACCC

Original cDNA sequence snippet

GAAGAGAATATCAGAAATCTGCATGGAGGAGGAACCCACCC

Altered cDNA sequence snippet

GAAGAGAATATCAGAAATCTTCATGGAGGAGGAACCCACCC

Wildtype AA sequence

MACWPQLRLL LWKNLTFRRR QTCQLLLEVA WPLFIFLILI SVRLSYPPYE QHECHFPNKA
MPSAGTLPWV QGIICNANNP CFRYPTPGEA PGVVGNFNKS IVARLFSDAR RLLLYSQKDT
SMKDMRKVLR TLQQIKKSSS NLKLQDFLVD NETFSGFLYH NLSLPKSTVD KMLRADVILH
KVFLQGYQLH LTSLCNGSKS EEMIQLGDQE VSELCGLPRE KLAAAERVLR SNMDILKPIL
RTLNSTSPFP SKELAEATKT LLHSLGTLAQ ELFSMRSWSD MRQEVMFLTN VNSSSSSTQI
YQAVSRIVCG HPEGGGLKIK SLNWYEDNNY KALFGGNGTE EDAETFYDNS TTPYCNDLMK
NLESSPLSRI IWKALKPLLV GKILYTPDTP ATRQVMAEVN KTFQELAVFH DLEGMWEELS
PKIWTFMENS QEMDLVRMLL DSRDNDHFWE QQLDGLDWTA QDIVAFLAKH PEDVQSSNGS
VYTWREAFNE TNQAIRTISR FMECVNLNKL EPIATEVWLI NKSMELLDER KFWAGIVFTG
ITPGSIELPH HVKYKIRMDI DNVERTNKIK DGYWDPGPRA DPFEDMRYVW GGFAYLQDVV
EQAIIRVLTG TEKKTGVYMQ QMPYPCYVDD IFLRVMSRSM PLFMTLAWIY SVAVIIKGIV
YEKEARLKET MRIMGLDNSI LWFSWFISSL IPLLVSAGLL VVILKLGNLL PYSDPSVVFV
FLSVFAVVTI LQCFLISTLF SRANLAAACG GIIYFTLYLP YVLCVAWQDY VGFTLKIFAS
LLSPVAFGFG CEYFALFEEQ GIGVQWDNLF ESPVEEDGFN LTTSVSMMLF DTFLYGVMTW
YIEAVFPGQY GIPRPWYFPC TKSYWFGEES DEKSHPGSNQ KRISEICMEE EPTHLKLGVS
IQNLVKVYRD GMKVAVDGLA LNFYEGQITS FLGHNGAGKT TTMSILTGLF PPTSGTAYIL
GKDIRSEMST IRQNLGVCPQ HNVLFDMLTV EEHIWFYARL KGLSEKHVKA EMEQMALDVG
LPSSKLKSKT SQLSGGMQRK LSVALAFVGG SKVVILDEPT AGVDPYSRRG IWELLLKYRQ
GRTIILSTHH MDEADVLGDR IAIISHGKLC CVGSSLFLKN QLGTGYYLTL VKKDVESSLS
SCRNSSSTVS YLKKVVPELP PAGQSGGRGG EVQRLVALTQ DVSAISNLIR KHVSEARLVE
DIGHELTYVL PYEAAKEGAF VELFHEIDDR LSDLGISSYG ISETTLEEIF LKVAEESGVD
AETSDGTLPA RRNRRAFGDK QSCLRPFTED DAADPNDSDI DPESRETDLL SGMDGKGSYQ
VKGWKLTQQQ FVALLWKRLL IARRSRKGFF AQIVLPAVFV CIALVFSLIV PPFGKYPSLE
LQPWMYNEQY TFVSNDAPED TGTLELLNAL TKDPGFGTRC MEGNPIPDTP CQAGEEEWTT
APVPQTIMDL FQNGNWTMQN PSPACQCSSD KIKKMLPVCP PGAGGLPPPQ RKQNTADILQ
DLTGRNISDY LVKTYVQIIA KSLKNKIWVN EFRYGGFSLG VSNTQALPPS QEVNDAIKQM
KKHLKLAKDS SADRFLNSLG RFMTGLDTKN NVKVWFNNKG WHAISSFLNV INNAILRANL
QKGENPSHYG ITAFNHPLNL TKQQLSEVAL MTTSVDVLVS ICVIFAMSFV PASFVVFLIQ
ERVSKAKHLQ FISGVKPVIY WLSNFVWDMC NYVVPATLVI IIFICFQQKS YVSSTNLPVL
ALLLLLYGWS ITPLMYPASF VFKIPSTAYV VLTSVNLFIG INGSVATFVL ELFTDNKLNN
INDILKSVFL IFPHFCLGRG LIDMVKNQAM ADALERFGEN RFVSPLSWDL VGRNLFAMAV
EGVVFFLITV LIQYRFFIRP RPVNAKLSPL NDEDEDVRRE RQRILDGGGQ NDILEIKELT
KIYRRKRKPA VDRICVGIPP GECFGLLGVN GAGKSSTFKM LTGDTTVTRG DAFLNKNSIL
SNIHEVHQNM GYCPQFDAIT ELLTGREHVE FFALLRGVPE KEVGKVGEWA IRKLGLVKYG
EKYAGNYSGG NKRKLSTAMA LIGGPPVVFL DEPTTGMDPK ARRFLWNCAL SVVKEGRSVV
LTSHSMEECE ALCTRMAIMV NGRFRCLGSV QHLKNRFGDG YTIVVRIAGS NPDLKPVQDF
FGLAFPGSVL KEKHRNMLQY QLPSSLSSLA RIFSILSQSK KRLHIEDYSV SQTTLDQVFV
NFAKDQSDDD HLKDLSLHKN QTVVDVAVLT SFLQDEKVKE SYV*

Mutated AA sequence

MACWPQLRLL LWKNLTFRRR QTCQLLLEVA WPLFIFLILI SVRLSYPPYE QHECHFPNKA
MPSAGTLPWV QGIICNANNP CFRYPTPGEA PGVVGNFNKS IVARLFSDAR RLLLYSQKDT
SMKDMRKVLR TLQQIKKSSS NLKLQDFLVD NETFSGFLYH NLSLPKSTVD KMLRADVILH
KVFLQGYQLH LTSLCNGSKS EEMIQLGDQE VSELCGLPRE KLAAAERVLR SNMDILKPIL
RTLNSTSPFP SKELAEATKT LLHSLGTLAQ ELFSMRSWSD MRQEVMFLTN VNSSSSSTQI
YQAVSRIVCG HPEGGGLKIK SLNWYEDNNY KALFGGNGTE EDAETFYDNS TTPYCNDLMK
NLESSPLSRI IWKALKPLLV GKILYTPDTP ATRQVMAEVN KTFQELAVFH DLEGMWEELS
PKIWTFMENS QEMDLVRMLL DSRDNDHFWE QQLDGLDWTA QDIVAFLAKH PEDVQSSNGS
VYTWREAFNE TNQAIRTISR FMECVNLNKL EPIATEVWLI NKSMELLDER KFWAGIVFTG
ITPGSIELPH HVKYKIRMDI DNVERTNKIK DGYWDPGPRA DPFEDMRYVW GGFAYLQDVV
EQAIIRVLTG TEKKTGVYMQ QMPYPCYVDD IFLRVMSRSM PLFMTLAWIY SVAVIIKGIV
YEKEARLKET MRIMGLDNSI LWFSWFISSL IPLLVSAGLL VVILKLGNLL PYSDPSVVFV
FLSVFAVVTI LQCFLISTLF SRANLAAACG GIIYFTLYLP YVLCVAWQDY VGFTLKIFAS
LLSPVAFGFG CEYFALFEEQ GIGVQWDNLF ESPVEEDGFN LTTSVSMMLF DTFLYGVMTW
YIEAVFPGQY GIPRPWYFPC TKSYWFGEES DEKSHPGSNQ KRISEIFMEE EPTHLKLGVS
IQNLVKVYRD GMKVAVDGLA LNFYEGQITS FLGHNGAGKT TTMSILTGLF PPTSGTAYIL
GKDIRSEMST IRQNLGVCPQ HNVLFDMLTV EEHIWFYARL KGLSEKHVKA EMEQMALDVG
LPSSKLKSKT SQLSGGMQRK LSVALAFVGG SKVVILDEPT AGVDPYSRRG IWELLLKYRQ
GRTIILSTHH MDEADVLGDR IAIISHGKLC CVGSSLFLKN QLGTGYYLTL VKKDVESSLS
SCRNSSSTVS YLKKVVPELP PAGQSGGRGG EVQRLVALTQ DVSAISNLIR KHVSEARLVE
DIGHELTYVL PYEAAKEGAF VELFHEIDDR LSDLGISSYG ISETTLEEIF LKVAEESGVD
AETSDGTLPA RRNRRAFGDK QSCLRPFTED DAADPNDSDI DPESRETDLL SGMDGKGSYQ
VKGWKLTQQQ FVALLWKRLL IARRSRKGFF AQIVLPAVFV CIALVFSLIV PPFGKYPSLE
LQPWMYNEQY TFVSNDAPED TGTLELLNAL TKDPGFGTRC MEGNPIPDTP CQAGEEEWTT
APVPQTIMDL FQNGNWTMQN PSPACQCSSD KIKKMLPVCP PGAGGLPPPQ RKQNTADILQ
DLTGRNISDY LVKTYVQIIA KSLKNKIWVN EFRYGGFSLG VSNTQALPPS QEVNDAIKQM
KKHLKLAKDS SADRFLNSLG RFMTGLDTKN NVKVWFNNKG WHAISSFLNV INNAILRANL
QKGENPSHYG ITAFNHPLNL TKQQLSEVAL MTTSVDVLVS ICVIFAMSFV PASFVVFLIQ
ERVSKAKHLQ FISGVKPVIY WLSNFVWDMC NYVVPATLVI IIFICFQQKS YVSSTNLPVL
ALLLLLYGWS ITPLMYPASF VFKIPSTAYV VLTSVNLFIG INGSVATFVL ELFTDNKLNN
INDILKSVFL IFPHFCLGRG LIDMVKNQAM ADALERFGEN RFVSPLSWDL VGRNLFAMAV
EGVVFFLITV LIQYRFFIRP RPVNAKLSPL NDEDEDVRRE RQRILDGGGQ NDILEIKELT
KIYRRKRKPA VDRICVGIPP GECFGLLGVN GAGKSSTFKM LTGDTTVTRG DAFLNKNSIL
SNIHEVHQNM GYCPQFDAIT ELLTGREHVE FFALLRGVPE KEVGKVGEWA IRKLGLVKYG
EKYAGNYSGG NKRKLSTAMA LIGGPPVVFL DEPTTGMDPK ARRFLWNCAL SVVKEGRSVV
LTSHSMEECE ALCTRMAIMV NGRFRCLGSV QHLKNRFGDG YTIVVRIAGS NPDLKPVQDF
FGLAFPGSVL KEKHRNMLQY QLPSSLSSLA RIFSILSQSK KRLHIEDYSV SQTTLDQVFV
NFAKDQSDDD HLKDLSLHKN QTVVDVAVLT SFLQDEKVKE SYV*

Position of stopcodon in wt / mu CDS

6792 / 6792

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

2264 / 2264

Position of stopcodon in wt / mu cDNA

7105 / 7105

Position of start ATG in wt / mu cDNA

314 / 314

Last intron/exon boundary

6964

Theoretical NMD boundary in CDS

6600

Length of CDS

6792

Coding sequence (CDS) position

2660

cDNA position

2973

gDNA position

105492

Chromosomal position

104822664

Speed

0.06 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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