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: ENST00000366578
Querying Taster for transcript #2: ENST00000542672
Querying Taster for transcript #3: ENST00000682015
MT speed 0.15 s - this script 2.61657 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
ENST00000366578(MANE Select)	ACTN2	Deleterious	77\|23	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected
ENST00000542672	ACTN2	Deleterious	90\|10	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected
ENST00000682015	ACTN2	Deleterious	90\|10	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Heterozygous in gnomAD

MutationT@ster 2025

Variant:

1:236747744C>T_1_ENST00000366578

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

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

Model: simple_aae
Tree vote: 77|23 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:236747744C>T (GRCh38)

Gene symbol

ACTN2

Gene constraints

LOEUF: 0.43, LOF (oe): 0.33, misssense (oe): 0.82, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000366578.6

Genbank transcript ID

NM_001103 (exact from MANE)

UniProt / AlphaMissense peptide

ACTN2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1484C>T
g.83604C>T

AA changes

AAE:	T495M	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200248944
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	1	699	700

Protein conservation

Species	Match	AA	Alignment
Human		495	Q	K	I	C	D	Q	W	D	R	L	G	T	L	T	Q	K	R	R	E	A	L	E	R	M
mutated	not conserved	495	Q	K	I	C	D	Q	W	D	R	L	G	M	L	T	Q	K	R	R	E	A	L	E	R
Ptroglodytes	all identical	495	Q	K	I	C	D	Q	W	D	R	L	G	T	L	T	Q	K	R	R	E	A	L	E	R
Mmulatta	all identical	495	Q	K	I	C	D	Q	W	D	R	L	G	T	L	T	Q	K	R	R	E	A	L	E	R
Fcatus	all identical	511	Q	K	I	C	D	Q	W	D	R	L	G	T	L	T	Q	K	R	R	E	A	L	E	R
Mmusculus	all identical	495	Q	K	I	C	D	Q	W	D	R	L	G	T	L	T	Q	K	R	R	E	A	L	E	R
Ggallus	all identical	498	Q	K	I	C	D	Q	W	D	S	L	G	T	L	T	Q	K	R	R	E	A	L	E	R
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	495	Q	K	I	C	D	Q	W	D	R	L	G	T	L	T	Q	K	R	R	E	A	L	E	R

Protein features

Start (aa)	End (aa)	Feature	Details
1	894	CHAIN		lost
401	506	REPEAT	Spectrin	lost
476	536	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.31	1
	5.961	1
(flanking)	-1.186	0.002

?

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

1

Strand

1

Original gDNA sequence snippet

CCAGTGGGACCGACTGGGAACGCTTACTCAGAAGAGGAGAG

Altered gDNA sequence snippet

CCAGTGGGACCGACTGGGAATGCTTACTCAGAAGAGGAGAG

Original cDNA sequence snippet

CCAGTGGGACCGACTGGGAACGCTTACTCAGAAGAGGAGAG

Altered cDNA sequence snippet

CCAGTGGGACCGACTGGGAATGCTTACTCAGAAGAGGAGAG

Wildtype AA sequence

MNQIEPGVQY NYVYDEDEYM IQEEEWDRDL LLDPAWEKQQ RKTFTAWCNS HLRKAGTQIE
NIEEDFRNGL KLMLLLEVIS GERLPKPDRG KMRFHKIANV NKALDYIASK GVKLVSIGAE
EIVDGNVKMT LGMIWTIILR FAIQDISVEE TSAKEGLLLW CQRKTAPYRN VNIQNFHTSW
KDGLGLCALI HRHRPDLIDY SKLNKDDPIG NINLAMEIAE KHLDIPKMLD AEDIVNTPKP
DERAIMTYVS CFYHAFAGAE QAETAANRIC KVLAVNQENE RLMEEYERLA SELLEWIRRT
IPWLENRTPE KTMQAMQKKL EDFRDYRRKH KPPKVQEKCQ LEINFNTLQT KLRISNRPAF
MPSEGKMVSD IAGAWQRLEQ AEKGYEEWLL NEIRRLERLE HLAEKFRQKA STHETWAYGK
EQILLQKDYE SASLTEVRAL LRKHEAFESD LAAHQDRVEQ IAAIAQELNE LDYHDAVNVN
DRCQKICDQW DRLGTLTQKR REALERMEKL LETIDQLHLE FAKRAAPFNN WMEGAMEDLQ
DMFIVHSIEE IQSLITAHEQ FKATLPEADG ERQSIMAIQN EVEKVIQSYN IRISSSNPYS
TVTMDELRTK WDKVKQLVPI RDQSLQEELA RQHANERLRR QFAAQANAIG PWIQNKMEEI
ARSSIQITGA LEDQMNQLKQ YEHNIINYKN NIDKLEGDHQ LIQEALVFDN KHTNYTMEHI
RVGWELLLTT IARTINEVET QILTRDAKGI TQEQMNEFRA SFNHFDRRKN GLMDHEDFRA
CLISMGYDLG EAEFARIMTL VDPNGQGTVT FQSFIDFMTR ETADTDTAEQ VIASFRILAS
DKPYILAEEL RRELPPDQAQ YCIKRMPAYS GPGSVPGALD YAAFSSALYG ESDL*

Mutated AA sequence

MNQIEPGVQY NYVYDEDEYM IQEEEWDRDL LLDPAWEKQQ RKTFTAWCNS HLRKAGTQIE
NIEEDFRNGL KLMLLLEVIS GERLPKPDRG KMRFHKIANV NKALDYIASK GVKLVSIGAE
EIVDGNVKMT LGMIWTIILR FAIQDISVEE TSAKEGLLLW CQRKTAPYRN VNIQNFHTSW
KDGLGLCALI HRHRPDLIDY SKLNKDDPIG NINLAMEIAE KHLDIPKMLD AEDIVNTPKP
DERAIMTYVS CFYHAFAGAE QAETAANRIC KVLAVNQENE RLMEEYERLA SELLEWIRRT
IPWLENRTPE KTMQAMQKKL EDFRDYRRKH KPPKVQEKCQ LEINFNTLQT KLRISNRPAF
MPSEGKMVSD IAGAWQRLEQ AEKGYEEWLL NEIRRLERLE HLAEKFRQKA STHETWAYGK
EQILLQKDYE SASLTEVRAL LRKHEAFESD LAAHQDRVEQ IAAIAQELNE LDYHDAVNVN
DRCQKICDQW DRLGMLTQKR REALERMEKL LETIDQLHLE FAKRAAPFNN WMEGAMEDLQ
DMFIVHSIEE IQSLITAHEQ FKATLPEADG ERQSIMAIQN EVEKVIQSYN IRISSSNPYS
TVTMDELRTK WDKVKQLVPI RDQSLQEELA RQHANERLRR QFAAQANAIG PWIQNKMEEI
ARSSIQITGA LEDQMNQLKQ YEHNIINYKN NIDKLEGDHQ LIQEALVFDN KHTNYTMEHI
RVGWELLLTT IARTINEVET QILTRDAKGI TQEQMNEFRA SFNHFDRRKN GLMDHEDFRA
CLISMGYDLG EAEFARIMTL VDPNGQGTVT FQSFIDFMTR ETADTDTAEQ VIASFRILAS
DKPYILAEEL RRELPPDQAQ YCIKRMPAYS GPGSVPGALD YAAFSSALYG ESDL*

Position of stopcodon in wt / mu CDS

2685 / 2685

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

895 / 895

Position of stopcodon in wt / mu cDNA

2860 / 2860

Position of start ATG in wt / mu cDNA

176 / 176

Last intron/exon boundary

2701

Theoretical NMD boundary in CDS

2475

Length of CDS

2685

Coding sequence (CDS) position

1484

cDNA position

1659

gDNA position

83604

Chromosomal position

236747744

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:

1:236747744C>T_2_ENST00000542672

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

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

Model: simple_aae
Tree vote: 90|10 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:236747744C>T (GRCh38)

Gene symbol

ACTN2

Gene constraints

LOEUF: 0.45, LOF (oe): 0.34, misssense (oe): 0.82, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000542672.7

Genbank transcript ID

NM_001278343 (by similarity)

UniProt / AlphaMissense peptide

ACTN2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1484C>T
g.83604C>T

AA changes

AAE:	T495M	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200248944
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	1	699	700

Protein conservation

Species	Match	AA	Alignment
Human		495	Q	K	I	C	D	Q	W	D	R	L	G	T	L	T	Q	K	R	R	E	A	L	E	R	M
mutated	not conserved	495	Q	K	I	C	D	Q	W	D	R	L	G	M	L	T	Q	K	R	R	E	A	L	E	R
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
1	894	CHAIN		lost
401	506	REPEAT	Spectrin	lost
476	536	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	6.31	1
	5.961	1
(flanking)	-1.186	0.002

?

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

1

Strand

1

Original gDNA sequence snippet

CCAGTGGGACCGACTGGGAACGCTTACTCAGAAGAGGAGAG

Altered gDNA sequence snippet

CCAGTGGGACCGACTGGGAATGCTTACTCAGAAGAGGAGAG

Original cDNA sequence snippet

CCAGTGGGACCGACTGGGAACGCTTACTCAGAAGAGGAGAG

Altered cDNA sequence snippet

CCAGTGGGACCGACTGGGAATGCTTACTCAGAAGAGGAGAG

Wildtype AA sequence

MNQIEPGVQY NYVYDEDEYM IQEEEWDRDL LLDPAWEKQQ RKTFTAWCNS HLRKAGTQIE
NIEEDFRNGL KLMLLLEVIS GERLPKPDRG KMRFHKIANV NKALDYIASK GVKLVSIGAE
EIVDGNVKMT LGMIWTIILR FAIQDISVEE TSAKEGLLLW CQRKTAPYRN VNIQNFHTSW
KDGLGLCALI HRHRPDLIDY SKLNKDDPIG NINLAMEIAE KHLDIPKMLD AEDLVYTARP
DERAIMTYVS CYYHAFAGAQ KAETAANRIC KVLAVNQENE RLMEEYERLA SELLEWIRRT
IPWLENRTPE KTMQAMQKKL EDFRDYRRKH KPPKVQEKCQ LEINFNTLQT KLRISNRPAF
MPSEGKMVSD IAGAWQRLEQ AEKGYEEWLL NEIRRLERLE HLAEKFRQKA STHETWAYGK
EQILLQKDYE SASLTEVRAL LRKHEAFESD LAAHQDRVEQ IAAIAQELNE LDYHDAVNVN
DRCQKICDQW DRLGTLTQKR REALERMEKL LETIDQLHLE FAKRAAPFNN WMEGAMEDLQ
DMFIVHSIEE IQSLITAHEQ FKATLPEADG ERQSIMAIQN EVEKVIQSYN IRISSSNPYS
TVTMDELRTK WDKVKQLVPI RDQSLQEELA RQHANERLRR QFAAQANAIG PWIQNKMEEI
ARSSIQITGA LEDQMNQLKQ YEHNIINYKN NIDKLEGDHQ LIQEALVFDN KHTNYTMEHI
RVGWELLLTT IARTINEVET QILTRDAKGI TQEQMNEFRA SFNHFDRRKN GLMDHEDFRA
CLISMGYDLG EAEFARIMTL VDPNGQGTVT FQSFIDFMTR ETADTDTAEQ VIASFRILAS
DKPYILAEEL RRELPPDQAQ YCIKRMPAYS GPGSVPGALD YAAFSSALYG ESDL*

Mutated AA sequence

MNQIEPGVQY NYVYDEDEYM IQEEEWDRDL LLDPAWEKQQ RKTFTAWCNS HLRKAGTQIE
NIEEDFRNGL KLMLLLEVIS GERLPKPDRG KMRFHKIANV NKALDYIASK GVKLVSIGAE
EIVDGNVKMT LGMIWTIILR FAIQDISVEE TSAKEGLLLW CQRKTAPYRN VNIQNFHTSW
KDGLGLCALI HRHRPDLIDY SKLNKDDPIG NINLAMEIAE KHLDIPKMLD AEDLVYTARP
DERAIMTYVS CYYHAFAGAQ KAETAANRIC KVLAVNQENE RLMEEYERLA SELLEWIRRT
IPWLENRTPE KTMQAMQKKL EDFRDYRRKH KPPKVQEKCQ LEINFNTLQT KLRISNRPAF
MPSEGKMVSD IAGAWQRLEQ AEKGYEEWLL NEIRRLERLE HLAEKFRQKA STHETWAYGK
EQILLQKDYE SASLTEVRAL LRKHEAFESD LAAHQDRVEQ IAAIAQELNE LDYHDAVNVN
DRCQKICDQW DRLGMLTQKR REALERMEKL LETIDQLHLE FAKRAAPFNN WMEGAMEDLQ
DMFIVHSIEE IQSLITAHEQ FKATLPEADG ERQSIMAIQN EVEKVIQSYN IRISSSNPYS
TVTMDELRTK WDKVKQLVPI RDQSLQEELA RQHANERLRR QFAAQANAIG PWIQNKMEEI
ARSSIQITGA LEDQMNQLKQ YEHNIINYKN NIDKLEGDHQ LIQEALVFDN KHTNYTMEHI
RVGWELLLTT IARTINEVET QILTRDAKGI TQEQMNEFRA SFNHFDRRKN GLMDHEDFRA
CLISMGYDLG EAEFARIMTL VDPNGQGTVT FQSFIDFMTR ETADTDTAEQ VIASFRILAS
DKPYILAEEL RRELPPDQAQ YCIKRMPAYS GPGSVPGALD YAAFSSALYG ESDL*

Position of stopcodon in wt / mu CDS

2685 / 2685

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

895 / 895

Position of stopcodon in wt / mu cDNA

2860 / 2860

Position of start ATG in wt / mu cDNA

176 / 176

Last intron/exon boundary

2701

Theoretical NMD boundary in CDS

2475

Length of CDS

2685

Coding sequence (CDS) position

1484

cDNA position

1659

gDNA position

83604

Chromosomal position

236747744

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:

1:236747744C>T_3_ENST00000682015

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD

Model: simple_aae
Tree vote: 90|10 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:236747744C>T (GRCh38)

Gene symbol

ACTN2

Gene constraints

LOEUF: 0.45, LOF (oe): 0.34, misssense (oe): 0.83, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000682015.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1391C>T
g.83604C>T

AA changes

AAE:	T464M	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs200248944
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	1	699	700

Protein conservation

Species	Match	AA	Alignment
Human		464	Q	K	I	C	D	Q	W	D	R	L	G	T	L	T	Q	K	R	R	E	A	L	E	R	M
mutated	not conserved	464	Q	K	I	C	D	Q	W	D	R	L	G	M	L	T	Q	K	R	R	E	A	L	E	R
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)	6.31	1
	5.961	1
(flanking)	-1.186	0.002

?

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

1

Strand

1

Original gDNA sequence snippet

CCAGTGGGACCGACTGGGAACGCTTACTCAGAAGAGGAGAG

Altered gDNA sequence snippet

CCAGTGGGACCGACTGGGAATGCTTACTCAGAAGAGGAGAG

Original cDNA sequence snippet

CCAGTGGGACCGACTGGGAACGCTTACTCAGAAGAGGAGAG

Altered cDNA sequence snippet

CCAGTGGGACCGACTGGGAATGCTTACTCAGAAGAGGAGAG

Wildtype AA sequence

MNQIEPGVQY NYVYDEDEYM IQEEEWDRDL LLDPAWEKQQ RKTFTAWCNS HLRKAGTQIE
NIEEDFRNGL KLMLLLEVIS GERLPKPDRG KMRFHKIANV NKALDYIASK GVKLVSIGAE
EIVDGNVKMT LGMIWTIILR FAIQDISVEE TSAKEGLLLW CQRKTAPYRN VNIQNFHTSW
KDGLGLCALI HRHRPDLIDY SKLNKDDPIG NINLAMEIAE KHLDIPKMLD AEDIVNTPKP
DERAIMTYVS CFYHAFAGAE QLLEWIRRTI PWLENRTPEK TMQAMQKKLE DFRDYRRKHK
PPKVQEKCQL EINFNTLQTK LRISNRPAFM PSEGKMVSDI AGAWQRLEQA EKGYEEWLLN
EIRRLERLEH LAEKFRQKAS THETWAYGKE QILLQKDYES ASLTEVRALL RKHEAFESDL
AAHQDRVEQI AAIAQELNEL DYHDAVNVND RCQKICDQWD RLGTLTQKRR EALERMEKLL
ETIDQLHLEF AKRAAPFNNW MEGAMEDLQD MFIVHSIEEI QSLITAHEQF KATLPEADGE
RQSIMAIQNE VEKVIQSYNI RISSSNPYST VTMDELRTKW DKVKQLVPIR DQSLQEELAR
QHANERLRRQ FAAQANAIGP WIQNKMEEIA RSSIQITGAL EDQMNQLKQY EHNIINYKNN
IDKLEGDHQL IQEALVFDNK HTNYTMEHIR VGWELLLTTI ARTINEVETQ ILTRDAKGIT
QEQMNEFRAS FNHFDRRKNG LMDHEDFRAC LISMGYDLGE AEFARIMTLV DPNGQGTVTF
QSFIDFMTRE TADTDTAEQV IASFRILASD KPYILAEELR RELPPDQAQY CIKRMPAYSG
PGSVPGALDY AAFSSALYGE SDL*

Mutated AA sequence

MNQIEPGVQY NYVYDEDEYM IQEEEWDRDL LLDPAWEKQQ RKTFTAWCNS HLRKAGTQIE
NIEEDFRNGL KLMLLLEVIS GERLPKPDRG KMRFHKIANV NKALDYIASK GVKLVSIGAE
EIVDGNVKMT LGMIWTIILR FAIQDISVEE TSAKEGLLLW CQRKTAPYRN VNIQNFHTSW
KDGLGLCALI HRHRPDLIDY SKLNKDDPIG NINLAMEIAE KHLDIPKMLD AEDIVNTPKP
DERAIMTYVS CFYHAFAGAE QLLEWIRRTI PWLENRTPEK TMQAMQKKLE DFRDYRRKHK
PPKVQEKCQL EINFNTLQTK LRISNRPAFM PSEGKMVSDI AGAWQRLEQA EKGYEEWLLN
EIRRLERLEH LAEKFRQKAS THETWAYGKE QILLQKDYES ASLTEVRALL RKHEAFESDL
AAHQDRVEQI AAIAQELNEL DYHDAVNVND RCQKICDQWD RLGMLTQKRR EALERMEKLL
ETIDQLHLEF AKRAAPFNNW MEGAMEDLQD MFIVHSIEEI QSLITAHEQF KATLPEADGE
RQSIMAIQNE VEKVIQSYNI RISSSNPYST VTMDELRTKW DKVKQLVPIR DQSLQEELAR
QHANERLRRQ FAAQANAIGP WIQNKMEEIA RSSIQITGAL EDQMNQLKQY EHNIINYKNN
IDKLEGDHQL IQEALVFDNK HTNYTMEHIR VGWELLLTTI ARTINEVETQ ILTRDAKGIT
QEQMNEFRAS FNHFDRRKNG LMDHEDFRAC LISMGYDLGE AEFARIMTLV DPNGQGTVTF
QSFIDFMTRE TADTDTAEQV IASFRILASD KPYILAEELR RELPPDQAQY CIKRMPAYSG
PGSVPGALDY AAFSSALYGE SDL*

Position of stopcodon in wt / mu CDS

2592 / 2592

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

864 / 864

Position of stopcodon in wt / mu cDNA

2627 / 2627

Position of start ATG in wt / mu cDNA

36 / 36

Last intron/exon boundary

2468

Theoretical NMD boundary in CDS

2382

Length of CDS

2592

Coding sequence (CDS) position

1391

cDNA position

1426

gDNA position

83604

Chromosomal position

236747744

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