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
MT speed 0.48 s - this script 2.925337 s

Transcript summary:

Permalink

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
ENST00000648076(MANE Select)	COL17A1	Deleterious	77\|23	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000369733	COL17A1	Deleterious	92\|8	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

10:104053090C>A_2_ENST00000648076

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

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

Analysed issue

Analysis result

Variant

Chr10:104053090C>A (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

COHA1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1880G>T
g.32791G>T

AA changes

AAE:	G627V	?
Score:	109

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		627	M	E	G	P	M	G	Q	R	G	R	E	G	P	M	G	P	R	G	E	A	G	P	P	G
mutated	not conserved	627	M	E	G	P	M	G	Q	R	G	R	E	V	P	M	G	P	R	G	E	A	G	P	P
Ptroglodytes	all identical	627	M	E	G	P	M	G	Q	R	G	R	E	G	P	M	G	P	R	G	E	P	G	P	P
Mmulatta	all identical	625	M	E	G	P	M	G	Q	R	G	R	E	G	P	M	G	P	R	G	E	P	G	P	P
Fcatus	all identical	628	M	E	G	P	M	G	Q	R	G	R	E	G	P	M	G	P	R	G	E	A	G	P	P
Mmusculus	not conserved	618	I	P	G	P	L	G	H	P	G	P	E	-	-	-	-	-	-	-	-	-	-	-	-
Ggallus	all identical	611	M	E	G	P	M	G	Q	R	G	R	E	G	L	P	G	P	R	G	E	P	G	P	P
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	1497	CHAIN		lost
489	1497	TOPO_DOM	Extracellular	lost
524	1497	CHAIN		lost
562	1011	REGION		lost
567	1482	REGION	Triple-helical region	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.063	0.049
	6.22	1
(flanking)	6.22	1

?

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

10

Strand

-1

Original gDNA sequence snippet

GGGCCAGAGAGGGCGAGAAGGCCCCATGGGACCTCGTGGTG

Altered gDNA sequence snippet

GGGCCAGAGAGGGCGAGAAGTCCCCATGGGACCTCGTGGTG

Original cDNA sequence snippet

GGGCCAGAGAGGGCGAGAAGGCCCCATGGGACCTCGTGGTG

Altered cDNA sequence snippet

GGGCCAGAGAGGGCGAGAAGTCCCCATGGGACCTCGTGGTG

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 GQRGREVPMG 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

1880

cDNA position

2049

gDNA position

32791

Chromosomal position

104053090

Speed

0.24 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:

10:104053090C>A_1_ENST00000369733

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

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

Analysed issue

Analysis result

Variant

Chr10:104053090C>A (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

COHA1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1880G>T
g.32791G>T

AA changes

AAE:	G627V	?
Score:	109

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		627	M	E	G	P	M	G	Q	R	G	R	E	G	P	M	G	P	R	G	E	A	G	P	P	G
mutated	not conserved	627	M	E	G	P	M	G	Q	R	G	R	E	V	P	M	G	P	R	G	E	A	G	P	P
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	1497	CHAIN		lost
489	1497	TOPO_DOM	Extracellular	lost
524	1497	CHAIN		lost
562	1011	REGION		lost
567	1482	REGION	Triple-helical region	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.063	0.049
	6.22	1
(flanking)	6.22	1

?

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

10

Strand

-1

Original gDNA sequence snippet

GGGCCAGAGAGGGCGAGAAGGCCCCATGGGACCTCGTGGTG

Altered gDNA sequence snippet

GGGCCAGAGAGGGCGAGAAGTCCCCATGGGACCTCGTGGTG

Original cDNA sequence snippet

GGGCCAGAGAGGGCGAGAAGGCCCCATGGGACCTCGTGGTG

Altered cDNA sequence snippet

GGGCCAGAGAGGGCGAGAAGTCCCCATGGGACCTCGTGGTG

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 GQRGREVPMG 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

1880

cDNA position

1880

gDNA position

32791

Chromosomal position

104053090

Speed

0.24 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