MutationT@ster 2025

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...
Querying Taster for transcript #1: ENST00000394299
Querying Taster for transcript #2: ENST00000689310
Querying Taster for transcript #3: ENST00000631057
Querying Taster for transcript #4: ENST00000370818
MT speed 0.21 s - this script 2.690225 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000370818(MANE Select)	GPC3	Benign	60\|40	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000394299	GPC3	Benign	66\|34	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000689310	GPC3	Benign	66\|34	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD
ENST00000631057	GPC3	Benign	66\|34	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected

MutationT@ster 2025

Variant:

23:133692376C>T_4_ENST00000370818

Back to summary table

Prediction:

BenignPermalink

Summary:

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

Model: simple_aae
Tree vote: 60|40 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:133692376C>T (GRCh38)

Gene symbol

GPC3

Gene constraints

no data

Ensembl transcript ID

ENST00000370818.8

Genbank transcript ID

NM_004484 (exact from MANE)

UniProt / AlphaMissense peptide

GPC3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1285G>A
g.294725G>A

AA changes

AAE:	V429M	?
Score:	21

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs11539789
gnomAD	homo-/hemizygous (T/T)	heterozygous	allele carriers
	1873	3644	5517

Protein conservation

Species	Match	AA	Alignment
Human		429	N	D	T	L	C	W	N	G	Q	E	L	V	E	R	Y	S	Q	K	A	A	R	N	G	M
mutated	all conserved	429				L	C	W	N	G	Q	E	L	M	E	R	Y	S	Q	K	A	A	R	N	G
Ptroglodytes	all identical	924				L	C	W	N	G	Q	E	L	V	E	R	Y	S	Q	K	A	A	R	N	G
Mmulatta	all identical	452	N	D	T	L	C	W	N	G	Q	E	L	V	E	R	Y	S	Q	K	A	A	R	N	G
Fcatus	all identical	429				L	C	W	N	G	Q	E	L	V	E	R	Y	S	Q	K	A	A	R	N	G
Mmusculus	all identical	428				L	C	W	N	G	Q	E	L	V	E	R	Y	S	Q	K	A	A	R	N	G
Ggallus	all identical	426				V	C	W	N	G	Q	E	V	V	E	R	Y	S	P	H	I	P	R	N	G
Trubripes	not conserved	427	N	H	S	L	C	W	N	G	Q	E	M	T	D	R	FPGP	G	L	K	R	L	H	P	G
Drerio	no homologue
Dmelanogaster	not conserved	481				S	C	W	S	G	D	R	F	G	D	-	Y	T	Q	L	L	I	N	P	G
Celegans	no alignment	n/a
Xtropicalis	all identical	418	N	D	T	F	C	W	N	G	H	E	I	V	E	R	F	S	P	H	T	V	K	N	G

Protein features

Start (aa)	End (aa)	Feature	Details
359	554	CHAIN		lost
425	431	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

8

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

23

Strand

-1

Original gDNA sequence snippet

GCTGGAATGGACAAGAACTCGTGGAGAGGTGATCTTTTTTG

Altered gDNA sequence snippet

GCTGGAATGGACAAGAACTCATGGAGAGGTGATCTTTTTTG

Original cDNA sequence snippet

GCTGGAATGGACAAGAACTCGTGGAGAGATACAGCCAAAAG

Altered cDNA sequence snippet

GCTGGAATGGACAAGAACTCATGGAGAGATACAGCCAAAAG

Wildtype AA sequence

MAGTVRTACL VVAMLLSLDF PGQAQPPPPP PDATCHQVRS FFQRLQPGLK WVPETPVPGS
DLQVCLPKGP TCCSRKMEEK YQLTARLNME QLLQSASMEL KFLIIQNAAV FQEAFEIVVR
HAKNYTNAMF KNNYPSLTPQ AFEFVGEFFT DVSLYILGSD INVDDMVNEL FDSLFPVIYT
QLMNPGLPDS ALDINECLRG ARRDLKVFGN FPKLIMTQVS KSLQVTRIFL QALNLGIEVI
NTTDHLKFSK DCGRMLTRMW YCSYCQGLMM VKPCGGYCNV VMQGCMAGVV EIDKYWREYI
LSLEELVNGM YRIYDMENVL LGLFSTIHDS IQYVQKNAGK LTTTIGKLCA HSQQRQYRSA
YYPEDLFIDK KVLKVAHVEH EETLSSRRRE LIQKLKSFIS FYSALPGYIC SHSPVAENDT
LCWNGQELVE RYSQKAARNG MKNQFNLHEL KMKGPEPVVS QIIDKLKHIN QLLRTMSMPK
GRVLDKNLDE EGFESGDCGD DEDECIGGSG DGMIKVKNQL RFLAELAYDL DVDDAPGNSQ
QATPKDNEIS TFHNLGNVHS PLKLLTSMAI SVVCFFFLVH *

Mutated AA sequence

MAGTVRTACL VVAMLLSLDF PGQAQPPPPP PDATCHQVRS FFQRLQPGLK WVPETPVPGS
DLQVCLPKGP TCCSRKMEEK YQLTARLNME QLLQSASMEL KFLIIQNAAV FQEAFEIVVR
HAKNYTNAMF KNNYPSLTPQ AFEFVGEFFT DVSLYILGSD INVDDMVNEL FDSLFPVIYT
QLMNPGLPDS ALDINECLRG ARRDLKVFGN FPKLIMTQVS KSLQVTRIFL QALNLGIEVI
NTTDHLKFSK DCGRMLTRMW YCSYCQGLMM VKPCGGYCNV VMQGCMAGVV EIDKYWREYI
LSLEELVNGM YRIYDMENVL LGLFSTIHDS IQYVQKNAGK LTTTIGKLCA HSQQRQYRSA
YYPEDLFIDK KVLKVAHVEH EETLSSRRRE LIQKLKSFIS FYSALPGYIC SHSPVAENDT
LCWNGQELME RYSQKAARNG MKNQFNLHEL KMKGPEPVVS QIIDKLKHIN QLLRTMSMPK
GRVLDKNLDE EGFESGDCGD DEDECIGGSG DGMIKVKNQL RFLAELAYDL DVDDAPGNSQ
QATPKDNEIS TFHNLGNVHS PLKLLTSMAI SVVCFFFLVH *

Position of stopcodon in wt / mu CDS

1743 / 1743

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

581 / 581

Position of stopcodon in wt / mu cDNA

1888 / 1888

Position of start ATG in wt / mu cDNA

146 / 146

Last intron/exon boundary

1718

Theoretical NMD boundary in CDS

1522

Length of CDS

1743

Coding sequence (CDS) position

1285

cDNA position

1430

gDNA position

294725

Chromosomal position

133692376

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:

23:133692376C>T_1_ENST00000394299

Back to summary table

Prediction:

BenignPermalink

Summary:

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

Model: simple_aae
Tree vote: 66|34 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:133692376C>T (GRCh38)

Gene symbol

GPC3

Gene constraints

no data

Ensembl transcript ID

ENST00000394299.7

Genbank transcript ID

NM_001164617 (by similarity)

UniProt / AlphaMissense peptide

GPC3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1354G>A
g.294725G>A

AA changes

AAE:	V452M	?
Score:	21

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs11539789
gnomAD	homo-/hemizygous (T/T)	heterozygous	allele carriers
	1873	3644	5517

Protein conservation

Species	Match	AA	Alignment
Human		452	N	D	T	L	C	W	N	G	Q	E	L	V	E	R	Y	S	Q	K	A	A	R	N	G	M
mutated	all conserved	452	N	D	T	L	C	W	N	G	Q	E	L	M	E	R	Y	S	Q	K	A	A	R	N	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

Start (aa)	End (aa)	Feature	Details
359	554	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

8

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

23

Strand

-1

Original gDNA sequence snippet

GCTGGAATGGACAAGAACTCGTGGAGAGGTGATCTTTTTTG

Altered gDNA sequence snippet

GCTGGAATGGACAAGAACTCATGGAGAGGTGATCTTTTTTG

Original cDNA sequence snippet

GCTGGAATGGACAAGAACTCGTGGAGAGATACAGCCAAAAG

Altered cDNA sequence snippet

GCTGGAATGGACAAGAACTCATGGAGAGATACAGCCAAAAG

Wildtype AA sequence

MAGTVRTACL VVAMLLSLDF PGQAQPPPPP PDATCHQVRS FFQRLQPGLK WVPETPVPGS
DLQVCLPKGP TCCSRKMEEK YQLTARLNME QLLQSASMEL KFLIIQNAAV FQEAFEIVVR
HAKNYTNAMF KNNYPSLTPQ AFEFVGEFFT DVSLYILGSD INVDDMVNEL FDSLFPVIYT
QLMNPGLPDS ALDINECLRG ARRDLKVFGN FPKLIMTQVS KSLQVTRIFL QALNLGIEVI
NTTDHLKFSK DCGRMLTRMW YCSYCQGLMM VKPCGGYCNV VMQGCMAGVV EIDKYWREYI
LSLEELVNGM YRIYDMENVL LGLFSTIHDS IQYVQKNAGK LTTTETEKKI WHFKYPIFFL
CIGLDLQIGK LCAHSQQRQY RSAYYPEDLF IDKKVLKVAH VEHEETLSSR RRELIQKLKS
FISFYSALPG YICSHSPVAE NDTLCWNGQE LVERYSQKAA RNGMKNQFNL HELKMKGPEP
VVSQIIDKLK HINQLLRTMS MPKGRVLDKN LDEEGFESGD CGDDEDECIG GSGDGMIKVK
NQLRFLAELA YDLDVDDAPG NSQQATPKDN EISTFHNLGN VHSPLKLLTS MAISVVCFFF
LVH*

Mutated AA sequence

MAGTVRTACL VVAMLLSLDF PGQAQPPPPP PDATCHQVRS FFQRLQPGLK WVPETPVPGS
DLQVCLPKGP TCCSRKMEEK YQLTARLNME QLLQSASMEL KFLIIQNAAV FQEAFEIVVR
HAKNYTNAMF KNNYPSLTPQ AFEFVGEFFT DVSLYILGSD INVDDMVNEL FDSLFPVIYT
QLMNPGLPDS ALDINECLRG ARRDLKVFGN FPKLIMTQVS KSLQVTRIFL QALNLGIEVI
NTTDHLKFSK DCGRMLTRMW YCSYCQGLMM VKPCGGYCNV VMQGCMAGVV EIDKYWREYI
LSLEELVNGM YRIYDMENVL LGLFSTIHDS IQYVQKNAGK LTTTETEKKI WHFKYPIFFL
CIGLDLQIGK LCAHSQQRQY RSAYYPEDLF IDKKVLKVAH VEHEETLSSR RRELIQKLKS
FISFYSALPG YICSHSPVAE NDTLCWNGQE LMERYSQKAA RNGMKNQFNL HELKMKGPEP
VVSQIIDKLK HINQLLRTMS MPKGRVLDKN LDEEGFESGD CGDDEDECIG GSGDGMIKVK
NQLRFLAELA YDLDVDDAPG NSQQATPKDN EISTFHNLGN VHSPLKLLTS MAISVVCFFF
LVH*

Position of stopcodon in wt / mu CDS

1812 / 1812

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

604 / 604

Position of stopcodon in wt / mu cDNA

1957 / 1957

Position of start ATG in wt / mu cDNA

146 / 146

Last intron/exon boundary

1787

Theoretical NMD boundary in CDS

1591

Length of CDS

1812

Coding sequence (CDS) position

1354

cDNA position

1499

gDNA position

294725

Chromosomal position

133692376

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:

23:133692376C>T_2_ENST00000689310

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 66|34 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:133692376C>T (GRCh38)

Gene symbol

GPC3

Gene constraints

no data

Ensembl transcript ID

ENST00000689310.1

Genbank transcript ID

NM_001164618 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1237G>A
g.294725G>A

AA changes

AAE:	V413M	?
Score:	21

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs11539789
gnomAD	homo-/hemizygous (T/T)	heterozygous	allele carriers
	1873	3644	5517

Protein conservation

Species	Match	AA	Alignment
Human		413	N	D	T	L	C	W	N	G	Q	E	L	V	E	R	Y	S	Q	K	A	A	R	N	G	M
mutated	all conserved	413	N	D	T	L	C	W	N	G	Q	E	L	M	E	R	Y	S	Q	K	A
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

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

8

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

23

Strand

-1

Original gDNA sequence snippet

GCTGGAATGGACAAGAACTCGTGGAGAGGTGATCTTTTTTG

Altered gDNA sequence snippet

GCTGGAATGGACAAGAACTCATGGAGAGGTGATCTTTTTTG

Original cDNA sequence snippet

GCTGGAATGGACAAGAACTCGTGGAGAGATACAGCCAAAAG

Altered cDNA sequence snippet

GCTGGAATGGACAAGAACTCATGGAGAGATACAGCCAAAAG

Wildtype AA sequence

MAGTVRTACL VVAMLLSLDF PGQAQPPPPP PDATCHQVRS FFQRLQPGLK WVPETPVPGS
DLQVCLPKGP TCCSRKMEEK YQLTARLNME QLLQSAKAFE IVVRHAKNYT NAMFKNNYPS
LTPQAFEFVG EFFTDVSLYI LGSDINVDDM VNELFDSLFP VIYTQLMNPG LPDSALDINE
CLRGARRDLK VFGNFPKLIM TQVSKSLQVT RIFLQALNLG IEVINTTDHL KFSKDCGRML
TRMWYCSYCQ GLMMVKPCGG YCNVVMQGCM AGVVEIDKYW REYILSLEEL VNGMYRIYDM
ENVLLGLFST IHDSIQYVQK NAGKLTTTIG KLCAHSQQRQ YRSAYYPEDL FIDKKVLKVA
HVEHEETLSS RRRELIQKLK SFISFYSALP GYICSHSPVA ENDTLCWNGQ ELVERYSQKA
ARNGMKNQFN LHELKMKGPE PVVSQIIDKL KHINQLLRTM SMPKGRVLDK NLDEEGFESG
DCGDDEDECI GGSGDGMIKV KNQLRFLAEL AYDLDVDDAP GNSQQATPKD NEISTFHNLG
NVHSPLKLLT SMAISVVCFF FLVH*

Mutated AA sequence

MAGTVRTACL VVAMLLSLDF PGQAQPPPPP PDATCHQVRS FFQRLQPGLK WVPETPVPGS
DLQVCLPKGP TCCSRKMEEK YQLTARLNME QLLQSAKAFE IVVRHAKNYT NAMFKNNYPS
LTPQAFEFVG EFFTDVSLYI LGSDINVDDM VNELFDSLFP VIYTQLMNPG LPDSALDINE
CLRGARRDLK VFGNFPKLIM TQVSKSLQVT RIFLQALNLG IEVINTTDHL KFSKDCGRML
TRMWYCSYCQ GLMMVKPCGG YCNVVMQGCM AGVVEIDKYW REYILSLEEL VNGMYRIYDM
ENVLLGLFST IHDSIQYVQK NAGKLTTTIG KLCAHSQQRQ YRSAYYPEDL FIDKKVLKVA
HVEHEETLSS RRRELIQKLK SFISFYSALP GYICSHSPVA ENDTLCWNGQ ELMERYSQKA
ARNGMKNQFN LHELKMKGPE PVVSQIIDKL KHINQLLRTM SMPKGRVLDK NLDEEGFESG
DCGDDEDECI GGSGDGMIKV KNQLRFLAEL AYDLDVDDAP GNSQQATPKD NEISTFHNLG
NVHSPLKLLT SMAISVVCFF FLVH*

Position of stopcodon in wt / mu CDS

1695 / 1695

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

565 / 565

Position of stopcodon in wt / mu cDNA

1863 / 1863

Position of start ATG in wt / mu cDNA

169 / 169

Last intron/exon boundary

1693

Theoretical NMD boundary in CDS

1474

Length of CDS

1695

Coding sequence (CDS) position

1237

cDNA position

1405

gDNA position

294725

Chromosomal position

133692376

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:

23:133692376C>T_3_ENST00000631057

Back to summary table

Prediction:

BenignPermalink

Summary:

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

Model: simple_aae
Tree vote: 66|34 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?
no values for phylogenetic conservation

Analysed issue

Analysis result

Variant

ChrX:133692376C>T (GRCh38)

Gene symbol

GPC3

Gene constraints

no data

Ensembl transcript ID

ENST00000631057.2

Genbank transcript ID

NM_001164619 (by similarity)

UniProt / AlphaMissense peptide

GPC3_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1123G>A
g.294725G>A

AA changes

AAE:	V375M	?
Score:	21

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs11539789
gnomAD	homo-/hemizygous (T/T)	heterozygous	allele carriers
	1873	3644	5517

Protein conservation

Species	Match	AA	Alignment
Human		375	N	D	T	L	C	W	N	G	Q	E	L	V	E	R	Y	S	Q	K	A	A	R	N	G	M
mutated	all conserved	375	N	D	T	L	C	W	N	G	Q	E	L	M	E	R	Y	S	Q	K	A	A	R	N	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

Start (aa)	End (aa)	Feature	Details
359	554	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

8

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

23

Strand

-1

Original gDNA sequence snippet

GCTGGAATGGACAAGAACTCGTGGAGAGGTGATCTTTTTTG

Altered gDNA sequence snippet

GCTGGAATGGACAAGAACTCATGGAGAGGTGATCTTTTTTG

Original cDNA sequence snippet

GCTGGAATGGACAAGAACTCGTGGAGAGATACAGCCAAAAG

Altered cDNA sequence snippet

GCTGGAATGGACAAGAACTCATGGAGAGATACAGCCAAAAG

Wildtype AA sequence

MAGTVRTACL VVAMLLSLDF PGQAQPPPPP PDATCHQVRS FFQRLQPGLK WVPETPVPEA
FEIVVRHAKN YTNAMFKNNY PSLTPQAFEF VGEFFTDVSL YILGSDINVD DMVNELFDSL
FPVIYTQLMN PGLPDSALDI NECLRGARRD LKVFGNFPKL IMTQVSKSLQ VTRIFLQALN
LGIEVINTTD HLKFSKDCGR MLTRMWYCSY CQGLMMVKPC GGYCNVVMQG CMAGVVEIDK
YWREYILSLE ELVNGMYRIY DMENVLLGLF STIHDSIQYV QKNAGKLTTT IGKLCAHSQQ
RQYRSAYYPE DLFIDKKVLK VAHVEHEETL SSRRRELIQK LKSFISFYSA LPGYICSHSP
VAENDTLCWN GQELVERYSQ KAARNGMKNQ FNLHELKMKG PEPVVSQIID KLKHINQLLR
TMSMPKGRVL DKNLDEEGFE SGDCGDDEDE CIGGSGDGMI KVKNQLRFLA ELAYDLDVDD
APGNSQQATP KDNEISTFHN LGNVHSPLKL LTSMAISVVC FFFLVH*

Mutated AA sequence

MAGTVRTACL VVAMLLSLDF PGQAQPPPPP PDATCHQVRS FFQRLQPGLK WVPETPVPEA
FEIVVRHAKN YTNAMFKNNY PSLTPQAFEF VGEFFTDVSL YILGSDINVD DMVNELFDSL
FPVIYTQLMN PGLPDSALDI NECLRGARRD LKVFGNFPKL IMTQVSKSLQ VTRIFLQALN
LGIEVINTTD HLKFSKDCGR MLTRMWYCSY CQGLMMVKPC GGYCNVVMQG CMAGVVEIDK
YWREYILSLE ELVNGMYRIY DMENVLLGLF STIHDSIQYV QKNAGKLTTT IGKLCAHSQQ
RQYRSAYYPE DLFIDKKVLK VAHVEHEETL SSRRRELIQK LKSFISFYSA LPGYICSHSP
VAENDTLCWN GQELMERYSQ KAARNGMKNQ FNLHELKMKG PEPVVSQIID KLKHINQLLR
TMSMPKGRVL DKNLDEEGFE SGDCGDDEDE CIGGSGDGMI KVKNQLRFLA ELAYDLDVDD
APGNSQQATP KDNEISTFHN LGNVHSPLKL LTSMAISVVC FFFLVH*

Position of stopcodon in wt / mu CDS

1581 / 1581

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

527 / 527

Position of stopcodon in wt / mu cDNA

1581 / 1581

Position of start ATG in wt / mu cDNA

1 / 1

Last intron/exon boundary

1411

Theoretical NMD boundary in CDS

1360

Length of CDS

1581

Coding sequence (CDS) position

1123

cDNA position

1123

gDNA position

294725

Chromosomal position

133692376

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