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: ENST00000369733
Querying Taster for transcript #2: ENST00000648076
Querying Taster for transcript #3: ENST00000393211
MT speed 0.06 s - this script 2.470083 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
ENST00000648076(MANE Select)	COL17A1	Benign	64\|136	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000369733	COL17A1	Benign	86\|114	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000393211	COL17A1	Benign	91\|109	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD

MutationT@ster 2025

Variant:

10:104073241A>G_2_ENST00000648076

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 64|136 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr10:104073241A>G (GRCh38)

Gene symbol

COL17A1

Gene constraints

LOEUF: 0.91, LOF (oe): 0.80, misssense (oe): 0.95, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000648076.2

Genbank transcript ID

NM_000494 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.384T>C
g.12640T>C

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs17116460
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	132	4476	4608

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.953	1
	2.805	1
(flanking)	5.227	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

5

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

10

Strand

-1

Original gDNA sequence snippet

TTTCTTTGTTTCTCAGCATCTTCTTCAACCAGAGGACGGAG

Altered gDNA sequence snippet

TTTCTTTGTTTCTCAGCATCCTCTTCAACCAGAGGACGGAG

Original cDNA sequence snippet

CCTCGGAAGGAATTTGCATCTTCTTCAACCAGAGGACGGAG

Altered cDNA sequence snippet

CCTCGGAAGGAATTTGCATCCTCTTCAACCAGAGGACGGAG

Wildtype AA sequence

MDVTKKNKRD GTEVTERIVT ETVTTRLTSL PPKGGTSNGY AKTASLGGGS RLEKQSLTHG
SSGYINSTGS TRGHASTSSY RRAHSPASTL PNSPGSTFER KTHVTRHAYE GSSSGNSSPE
YPRKEFASSS TRGRSQTRES EIRVRLQSAS PSTRWTELDD VKRLLKGSRS ASVSPTRNSS
NTLPIPKKGT VETKIVTASS QSVSGTYDAT ILDANLPSHV WSSTLPAGSS MGTYHNNMTT
QSSSLLNTNA YSAGSVFGVP NNMASCSPTL HPGLSTSSSV FGMQNNLAPS LTTLSHGTTT
TSTAYGVKKN MPQSPAAVNT GVSTSAACTT SVQSDDLLHK DCKFLILEKD NTPAKKEMEL
LIMTKDSGKV FTASPASIAA TSFSEDTLKK EKQAAYNADS GLKAEANGDL KTVSTKGKTT
TADIHSYGSS GGGGSGGGGG VGGAGGGPWG PAPAWCPCGS CCSWWKWLLG LLLTWLLLLG
LLFGLIALAE EVRKLKARVD ELERIRRSIL PYGDSMDRIE KDRLQGMAPA AGADLDKIGL
HSDSQEELWM FVRKKLMMEQ ENGNLRGSPG PKGDMGSPGP KGDRGFPGTP GIPGPLGHPG
PQGPKGQKGS VGDPGMEGPM GQRGREGPMG PRGEAGPPGS GEKGERGAAG EPGPHGPPGV
PGSVGPKGSS GSPGPQGPPG PVGLQGLRGE VGLPGVKGDK GPMGPPGPKG DQGEKGPRGL
TGEPGMRGLP GAVGEPGAKG AMGPAGPDGH QGPRGEQGLT GMPGIRGPPG PSGDPGKPGL
TGPQGPQGLP GTPGRPGIKG EPGAPGKIVT SEGSSMLTVP GPPGPPGAMG PPGPPGAPGP
AGPAGLPGHQ EVLNLQGPPG PPGPRGPPGP SIPGPPGPRG PPGEGLPGPP GPPGSFLSNS
ETFLSGPPGP PGPPGPKGDQ GPPGPRGHQG EQGLPGFSTS GSSSFGLNLQ GPPGPPGPQG
PKGDKGDPGV PGALGIPSGP SEGGSSSTMY VSGPPGPPGP PGPPGSISSS GQEIQQYISE
YMQSDSIRSY LSGVQGPPGP PGPPGPVTTI TGETFDYSEL ASHVVSYLRT SGYGVSLFSS
SISSEDILAV LQRDDVRQYL RQYLMGPRGP PGPPGASGDG SLLSLDYAEL SSRILSYMSS
SGISIGLPGP PGPPGLPGTS YEELLSLLRG SEFRGIVGPP GPPGPPGIPG NVWSSISVED
LSSYLHTAGL SFIPGPPGPP GPPGPRGPPG VSGALATYAA ENSDSFRSEL ISYLTSPDVR
SFIVGPPGPP GPQGPPGDSR LLSTDASHSR GSSSSSHSSS VRRGSSYSSS MSTGGGGAGS
LGAGGAFGEA AGDRGPYGTD IGPGGGYGAA AEGGMYAGNG GLLGADFAGD LDYNELAVRV
SESMQRQGLL QGMAYTVQGP PGQPGPQGPP GISKVFSAYS NVTADLMDFF QTYGAIQGPP
GQKGEMGTPG PKGDRGPAGP PGHPGPPGPR GHKGEKGDKG DQVYAGRRRR RSIAVKP*

Mutated AA sequence

MDVTKKNKRD GTEVTERIVT ETVTTRLTSL PPKGGTSNGY AKTASLGGGS RLEKQSLTHG
SSGYINSTGS TRGHASTSSY RRAHSPASTL PNSPGSTFER KTHVTRHAYE GSSSGNSSPE
YPRKEFASSS TRGRSQTRES EIRVRLQSAS PSTRWTELDD VKRLLKGSRS ASVSPTRNSS
NTLPIPKKGT VETKIVTASS QSVSGTYDAT ILDANLPSHV WSSTLPAGSS MGTYHNNMTT
QSSSLLNTNA YSAGSVFGVP NNMASCSPTL HPGLSTSSSV FGMQNNLAPS LTTLSHGTTT
TSTAYGVKKN MPQSPAAVNT GVSTSAACTT SVQSDDLLHK DCKFLILEKD NTPAKKEMEL
LIMTKDSGKV FTASPASIAA TSFSEDTLKK EKQAAYNADS GLKAEANGDL KTVSTKGKTT
TADIHSYGSS GGGGSGGGGG VGGAGGGPWG PAPAWCPCGS CCSWWKWLLG LLLTWLLLLG
LLFGLIALAE EVRKLKARVD ELERIRRSIL PYGDSMDRIE KDRLQGMAPA AGADLDKIGL
HSDSQEELWM FVRKKLMMEQ ENGNLRGSPG PKGDMGSPGP KGDRGFPGTP GIPGPLGHPG
PQGPKGQKGS VGDPGMEGPM GQRGREGPMG PRGEAGPPGS GEKGERGAAG EPGPHGPPGV
PGSVGPKGSS GSPGPQGPPG PVGLQGLRGE VGLPGVKGDK GPMGPPGPKG DQGEKGPRGL
TGEPGMRGLP GAVGEPGAKG AMGPAGPDGH QGPRGEQGLT GMPGIRGPPG PSGDPGKPGL
TGPQGPQGLP GTPGRPGIKG EPGAPGKIVT SEGSSMLTVP GPPGPPGAMG PPGPPGAPGP
AGPAGLPGHQ EVLNLQGPPG PPGPRGPPGP SIPGPPGPRG PPGEGLPGPP GPPGSFLSNS
ETFLSGPPGP PGPPGPKGDQ GPPGPRGHQG EQGLPGFSTS GSSSFGLNLQ GPPGPPGPQG
PKGDKGDPGV PGALGIPSGP SEGGSSSTMY VSGPPGPPGP PGPPGSISSS GQEIQQYISE
YMQSDSIRSY LSGVQGPPGP PGPPGPVTTI TGETFDYSEL ASHVVSYLRT SGYGVSLFSS
SISSEDILAV LQRDDVRQYL RQYLMGPRGP PGPPGASGDG SLLSLDYAEL SSRILSYMSS
SGISIGLPGP PGPPGLPGTS YEELLSLLRG SEFRGIVGPP GPPGPPGIPG NVWSSISVED
LSSYLHTAGL SFIPGPPGPP GPPGPRGPPG VSGALATYAA ENSDSFRSEL ISYLTSPDVR
SFIVGPPGPP GPQGPPGDSR LLSTDASHSR GSSSSSHSSS VRRGSSYSSS MSTGGGGAGS
LGAGGAFGEA AGDRGPYGTD IGPGGGYGAA AEGGMYAGNG GLLGADFAGD LDYNELAVRV
SESMQRQGLL QGMAYTVQGP PGQPGPQGPP GISKVFSAYS NVTADLMDFF QTYGAIQGPP
GQKGEMGTPG PKGDRGPAGP PGHPGPPGPR GHKGEKGDKG DQVYAGRRRR RSIAVKP*

Position of stopcodon in wt / mu CDS

4494 / 4494

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

1498 / 1498

Position of stopcodon in wt / mu cDNA

4663 / 4663

Position of start ATG in wt / mu cDNA

170 / 170

Last intron/exon boundary

4607

Theoretical NMD boundary in CDS

4387

Length of CDS

4494

Coding sequence (CDS) position

384

cDNA position

553

gDNA position

12640

Chromosomal position

104073241

Speed

0.01 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:

10:104073241A>G_1_ENST00000369733

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 86|114 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr10:104073241A>G (GRCh38)

Gene symbol

COL17A1

Gene constraints

LOEUF: 0.91, LOF (oe): 0.80, misssense (oe): 0.95, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000369733.8

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.384T>C
g.12640T>C

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs17116460
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	132	4476	4608

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.953	1
	2.805	1
(flanking)	5.227	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

5

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

10

Strand

-1

Original gDNA sequence snippet

TTTCTTTGTTTCTCAGCATCTTCTTCAACCAGAGGACGGAG

Altered gDNA sequence snippet

TTTCTTTGTTTCTCAGCATCCTCTTCAACCAGAGGACGGAG

Original cDNA sequence snippet

CCTCGGAAGGAATTTGCATCTTCTTCAACCAGAGGACGGAG

Altered cDNA sequence snippet

CCTCGGAAGGAATTTGCATCCTCTTCAACCAGAGGACGGAG

Wildtype AA sequence

MDVTKKNKRD GTEVTERIVT ETVTTRLTSL PPKGGTSNGY AKTASLGGGS RLEKQSLTHG
SSGYINSTGS TRGHASTSSY RRAHSPASTL PNSPGSTFER KTHVTRHAYE GSSSGNSSPE
YPRKEFASSS TRGRSQTRES EIRVRLQSAS PSTRWTELDD VKRLLKGSRS ASVSPTRNSS
NTLPIPKKGT VETKIVTASS QSVSGTYDAT ILDANLPSHV WSSTLPAGSS MGTYHNNMTT
QSSSLLNTNA YSAGSVFGVP NNMASCSPTL HPGLSTSSSV FGMQNNLAPS LTTLSHGTTT
TSTAYGVKKN MPQSPAAVNT GVSTSAACTT SVQSDDLLHK DCKFLILEKD NTPAKKEMEL
LIMTKDSGKV FTASPASIAA TSFSEDTLKK EKQAAYNADS GLKAEANGDL KTVSTKGKTT
TADIHSYGSS GGGGSGGGGG VGGAGGGPWG PAPAWCPCGS CCSWWKWLLG LLLTWLLLLG
LLFGLIALAE EVRKLKARVD ELERIRRSIL PYGDSMDRIE KDRLQGMAPA AGADLDKIGL
HSDSQEELWM FVRKKLMMEQ ENGNLRGSPG PKGDMGSPGP KGDRGFPGTP GIPGPLGHPG
PQGPKGQKGS VGDPGMEGPM GQRGREGPMG PRGEAGPPGS GEKGERGAAG EPGPHGPPGV
PGSVGPKGSS GSPGPQGPPG PVGLQGLRGE VGLPGVKGDK GPMGPPGPKG DQGEKGPRGL
TGEPGMRGLP GAVGEPGAKG AMGPAGPDGH QGPRGEQGLT GMPGIRGPPG PSGDPGKPGL
TGPQGPQGLP GTPGRPGIKG EPGAPGKIVT SEGSSMLTVP GPPGPPGAMG PPGPPGAPGP
AGPAGLPGHQ EVLNLQGPPG PPGPRGPPGP SIPGPPGPRG PPGEGLPGPP GPPGSFLSNS
ETFLSGPPGP PGPPGPKGDQ GDPGVPGALG IPSGPSEGGS SSTMYVSGPP GPPGPPGPPG
SISSSGQEIQ QYISEYMQSD SIRSYLSGVQ GPPGPPGPPG PVTTITGETF DYSELASHVV
SYLRTSGYGV SLFSSSISSE DILAVLQRDD VRQYLRQYLM GPRGPPGPPG ASGDGSLLSL
DYAELSSRIL SYMSSSGISI GLPGPPGPPG LPGTSYEELL SLLRAAGLSF IPGPPGPPGP
PGPRGPPGVS GALATYAAEN SDSFRSELIS YLTSPDVRSF IVGPPGPPGP QGPPGDSRLL
STDASHSRGS SSSSHSSSVR RGSSYSSSMS TGGGGAGSLG AGGAFGEAAG DRGPYGTDIG
PGGGYGAAAE GGMYAGNGGL LGADFAGDLD YNELAVRVSE SMQRQGLLQG MAYTVQGPPG
QPGPQGPPGI SKVFSAYSNV TADLMDFFQT YGAIQGPPGQ KGEMGTPGPK GDRGPAGPPG
HPGPPGPRGH KGEKGDKGDQ VYAGRRRRRS IAVKP*

Mutated AA sequence

MDVTKKNKRD GTEVTERIVT ETVTTRLTSL PPKGGTSNGY AKTASLGGGS RLEKQSLTHG
SSGYINSTGS TRGHASTSSY RRAHSPASTL PNSPGSTFER KTHVTRHAYE GSSSGNSSPE
YPRKEFASSS TRGRSQTRES EIRVRLQSAS PSTRWTELDD VKRLLKGSRS ASVSPTRNSS
NTLPIPKKGT VETKIVTASS QSVSGTYDAT ILDANLPSHV WSSTLPAGSS MGTYHNNMTT
QSSSLLNTNA YSAGSVFGVP NNMASCSPTL HPGLSTSSSV FGMQNNLAPS LTTLSHGTTT
TSTAYGVKKN MPQSPAAVNT GVSTSAACTT SVQSDDLLHK DCKFLILEKD NTPAKKEMEL
LIMTKDSGKV FTASPASIAA TSFSEDTLKK EKQAAYNADS GLKAEANGDL KTVSTKGKTT
TADIHSYGSS GGGGSGGGGG VGGAGGGPWG PAPAWCPCGS CCSWWKWLLG LLLTWLLLLG
LLFGLIALAE EVRKLKARVD ELERIRRSIL PYGDSMDRIE KDRLQGMAPA AGADLDKIGL
HSDSQEELWM FVRKKLMMEQ ENGNLRGSPG PKGDMGSPGP KGDRGFPGTP GIPGPLGHPG
PQGPKGQKGS VGDPGMEGPM GQRGREGPMG PRGEAGPPGS GEKGERGAAG EPGPHGPPGV
PGSVGPKGSS GSPGPQGPPG PVGLQGLRGE VGLPGVKGDK GPMGPPGPKG DQGEKGPRGL
TGEPGMRGLP GAVGEPGAKG AMGPAGPDGH QGPRGEQGLT GMPGIRGPPG PSGDPGKPGL
TGPQGPQGLP GTPGRPGIKG EPGAPGKIVT SEGSSMLTVP GPPGPPGAMG PPGPPGAPGP
AGPAGLPGHQ EVLNLQGPPG PPGPRGPPGP SIPGPPGPRG PPGEGLPGPP GPPGSFLSNS
ETFLSGPPGP PGPPGPKGDQ GDPGVPGALG IPSGPSEGGS SSTMYVSGPP GPPGPPGPPG
SISSSGQEIQ QYISEYMQSD SIRSYLSGVQ GPPGPPGPPG PVTTITGETF DYSELASHVV
SYLRTSGYGV SLFSSSISSE DILAVLQRDD VRQYLRQYLM GPRGPPGPPG ASGDGSLLSL
DYAELSSRIL SYMSSSGISI GLPGPPGPPG LPGTSYEELL SLLRAAGLSF IPGPPGPPGP
PGPRGPPGVS GALATYAAEN SDSFRSELIS YLTSPDVRSF IVGPPGPPGP QGPPGDSRLL
STDASHSRGS SSSSHSSSVR RGSSYSSSMS TGGGGAGSLG AGGAFGEAAG DRGPYGTDIG
PGGGYGAAAE GGMYAGNGGL LGADFAGDLD YNELAVRVSE SMQRQGLLQG MAYTVQGPPG
QPGPQGPPGI SKVFSAYSNV TADLMDFFQT YGAIQGPPGQ KGEMGTPGPK GDRGPAGPPG
HPGPPGPRGH KGEKGDKGDQ VYAGRRRRRS IAVKP*

Position of stopcodon in wt / mu CDS

4248 / 4248

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

1416 / 1416

Position of stopcodon in wt / mu cDNA

4248 / 4248

Position of start ATG in wt / mu cDNA

1 / 1

Last intron/exon boundary

4192

Theoretical NMD boundary in CDS

4141

Length of CDS

4248

Coding sequence (CDS) position

384

cDNA position

384

gDNA position

12640

Chromosomal position

104073241

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:

10:104073241A>G_3_ENST00000393211

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 91|109 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr10:104073241A>G (GRCh38)

Gene symbol

COL17A1

Gene constraints

LOEUF: 1.11, LOF (oe): 0.87, misssense (oe): 0.91, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000393211.3

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.384T>C
g.12640T>C

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs17116460
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	132	4476	4608

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.953	1
	2.805	1
(flanking)	5.227	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

5

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

10

Strand

-1

Original gDNA sequence snippet

TTTCTTTGTTTCTCAGCATCTTCTTCAACCAGAGGACGGAG

Altered gDNA sequence snippet

TTTCTTTGTTTCTCAGCATCCTCTTCAACCAGAGGACGGAG

Original cDNA sequence snippet

CCTCGGAAGGAATTTGCATCTTCTTCAACCAGAGGACGGAG

Altered cDNA sequence snippet

CCTCGGAAGGAATTTGCATCCTCTTCAACCAGAGGACGGAG

Wildtype AA sequence

MDVTKKNKRD GTEVTERIVT ETVTTRLTSL PPKGGTSNGY AKTASLGGGS RLEKQSLTHG
SSGYINSTGS TRGHASTSSY RRAHSPASTL PNSPGSTFER KTHVTRHAYE GSSSGNSSPE
YPRKEFASSS TRGRSQTRES EIRVRLQSAS PSTRWTELDD VKRLLKGSRS ASVSPTRNSS
NTLPIPKKGT VETKIVTASS QSVSGTYDAT ILDANLPSHV WSSTLPAGSS MGTYHNNMTT
QSSSLLNTNA YSAGSVFGVP NNMASCSPTL HPGLSTSSSV FGMQNNLAPS LTTLSHGTTT
TSTAYGVKKN MPQSPAAVNT GVSTSAACTT SVQSDDLLHK DCKFLILEKD NTPAKKEMEL
LIMTKDSGKV FTASPASIAA TSFSEDTLKK EKQAAYNADS GLKAEANGKN KYDCCPP*

Mutated AA sequence

MDVTKKNKRD GTEVTERIVT ETVTTRLTSL PPKGGTSNGY AKTASLGGGS RLEKQSLTHG
SSGYINSTGS TRGHASTSSY RRAHSPASTL PNSPGSTFER KTHVTRHAYE GSSSGNSSPE
YPRKEFASSS TRGRSQTRES EIRVRLQSAS PSTRWTELDD VKRLLKGSRS ASVSPTRNSS
NTLPIPKKGT VETKIVTASS QSVSGTYDAT ILDANLPSHV WSSTLPAGSS MGTYHNNMTT
QSSSLLNTNA YSAGSVFGVP NNMASCSPTL HPGLSTSSSV FGMQNNLAPS LTTLSHGTTT
TSTAYGVKKN MPQSPAAVNT GVSTSAACTT SVQSDDLLHK DCKFLILEKD NTPAKKEMEL
LIMTKDSGKV FTASPASIAA TSFSEDTLKK EKQAAYNADS GLKAEANGKN KYDCCPP*

Position of stopcodon in wt / mu CDS

1254 / 1254

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

418 / 418

Position of stopcodon in wt / mu cDNA

1321 / 1321

Position of start ATG in wt / mu cDNA

68 / 68

Last intron/exon boundary

1208

Theoretical NMD boundary in CDS

1090

Length of CDS

1254

Coding sequence (CDS) position

384

cDNA position

451

gDNA position

12640

Chromosomal position

104073241

Speed

0.01 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