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: ENST00000570803
Querying Taster for transcript #2: ENST00000714062
Querying Taster for transcript #3: ENST00000714057
Querying Taster for transcript #4: ENST00000714058
Querying Taster for transcript #5: ENST00000390015
Querying Taster for transcript #6: ENST00000302262
Querying Taster for transcript #7: ENST00000714055
Querying Taster for transcript #8: ENST00000577106
Querying Taster for transcript #9: ENST00000714054
MT speed 0.18 s - this script 2.59066 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length
ENST00000714062	GAA	Benign	0\|200	without_aae	No	Single base exchange	N/A
ENST00000714057	GAA	Benign	0\|200	without_aae	No	Single base exchange	N/A
ENST00000714058	GAA	Benign	0\|200	without_aae	No	Single base exchange	N/A
ENST00000714055	GAA	Benign	0\|200	without_aae	No	Single base exchange	N/A
ENST00000714054	GAA	Benign	0\|200	without_aae	No	Single base exchange	N/A
ENST00000390015	GAA	Benign	1\|199	without_aae	No	Single base exchange	N/A
ENST00000302262(MANE Select)	GAA	Benign	1\|199	without_aae	No	Single base exchange	N/A
ENST00000570803	GAA	Benign	7\|193	without_aae	No	Single base exchange	N/A
ENST00000577106	GAA	Benign	11\|189	without_aae	No	Single base exchange	N/A

MutationT@ster 2025

Variant:

17:80104542T>C_2_ENST00000714062

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:80104542T>C (GRCh38)

Gene symbol

GAA

Gene constraints

no data

Ensembl transcript ID

ENST00000714062.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-255-1207T>C
g.3010T>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'C' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.297	0
	-0.419	0
(flanking)	1.073	0.002

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

17

Strand

1

Original gDNA sequence snippet

CCTCCCTGCTGAGCCCGCTTTCTTCTCCCGCAGGCCTGTAG

Altered gDNA sequence snippet

CCTCCCTGCTGAGCCCGCTTCCTTCTCCCGCAGGCCTGTAG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MLSTSWTRIT LWNRDLAPTP GANLYGSHPF YLALEDGGSA HGVFLLNSNA MGYPFMPPYW
GLGFHLCRWG YSSTAITRQV VENMTRAHFP LDVQWNDLDY MDSRRDFTFN KDGFRDFPAM
VQELHQGGRR YMMIVDPAIS SSGPAGSYRP YDEGLRRGVF ITNETGQPLI GKVWPGSTAF
PDFTNPTALA WWEDMVAEFH DQVPFDGMWI DMNEPSNFIR GSEDGCPNNE LENPPYVPGV
VGGTLQAATI CASSHQFLST HYNLHNLYGL TEAIASHRAL VKARGTRPFV ISRSTFAGHG
RYAGHWTGDV WSSWEQLASS VPEILQFNLL GVPLVGADVC GFLGNTSEEL CVRWTQLGAF
YPFMRNHNSL LSLPQEPYSF SEPAQQAMRK ALTLRYALLP HLYTLFHQAH VAGETVARPL
FLEFPKDSST WTVDHQLLWG EALLITPVLQ AGKAEVTGYF PLGTWYDLQT VPVEALGSLP
PPPAAPREPA IHSEGQWVTL PAPLDTINVH LRAGYIIPLQ GPGLTTTESR QQPMALAVAL
TKGGEARGEL FWDDGESLEV LERGAYTQVI FLARNNTIVN ELVRVTSEGA GLQLQKVTVL
GVATAPQQVL SNGVPVSNFT YSPDTKVLDI CVSLLMGEQF LVSWC*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

284 / 284

Last intron/exon boundary

2161

Theoretical NMD boundary in CDS

1827

Length of CDS

1938

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

3010

Chromosomal position

80104542

Speed

0.02 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:

17:80104542T>C_3_ENST00000714057

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:80104542T>C (GRCh38)

Gene symbol

GAA

Gene constraints

no data

Ensembl transcript ID

ENST00000714057.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-32-13T>C
g.3010T>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'C' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.297	0
	-0.419	0
(flanking)	1.073	0.002

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

13

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

17

Strand

1

Original gDNA sequence snippet

CCTCCCTGCTGAGCCCGCTTTCTTCTCCCGCAGGCCTGTAG

Altered gDNA sequence snippet

CCTCCCTGCTGAGCCCGCTTCCTTCTCCCGCAGGCCTGTAG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGVRHPPCSH RLLAVCALVS LATAALLGHI LLHDFLLVPR ELSGSSPVLE ETHPAHQQGA
SRPGPRDAQA HPGRPRAVPT QCDVPPNSRF DCAPDKAITQ EQCEARGCCY IPAKQGLQGA
QMGQPWCFFP PSYPSYKLEN LSSSEMGYTA TLTRTTPTFF PKDILTLRLD VMMETENRLH
FTIKDPANRR YEVPLETPHV HSRAPSPLYS VEFSEEPFGV IVRRQLDGRV LLNTTVAPLF
FADQFLQLST SLPSQYITGL AEHLSPLMLS TSWTRITLWN RDLAPTPGAN LYGSHPFYLA
LEDGGSAHGV FLLNSNAMDV VLQPSPALSW RSTGGILDVY IFLGPEPKSV VQQYLDVVGY
PFMPPYWGLG FHLCRWGYSS TAITRQVVEN MTRAHFPLDV QWNDLDYMDS RRDFTFNKDG
FRDFPAMVQE LHQGGRRYMM IVDPAISSSG PAGSYRPYDE GLRRGVFITN ETGQPLIGKV
WPGSTAFPDF TNPTALAWWE DMVAEFHDQV PFDGMWIDMN EPSNFIRGSE DGCPNNELEN
PPYVPGVVGG TLQAATICAS SHQFLSTHYN LHNLYGLTEA IASHRALVKA RGTRPFVISR
STFAGHGRYA GHWTGDVWSS WEQLASSVPE ILQFNLLGVP LVGADVCGFL GNTSEELCVR
WTQLGAFYPF MRNHNSLLSL PQEPYSFSEP AQQAMRKALT LRYALLPHLY TLFHQAHVAG
ETVARPLFLE FPKDSSTWTV DHQLLWGEAL LITPVLQAGK AEVTGYFPLG TWYDLQTVPV
EALGSLPPPP AAPREPAIHS EGQWVTLPAP LDTINVHLRA GYIIPLQGPG LTTTESRQQP
MALAVALTKG GEARGELFWD DGESLEVLER GAYTQVIFLA RNNTIVNELV RVTSEGAGLQ
LQKVTVLGVA TAPQQVLSNG VPVSNFTYSP DTKVLDICVS LLMGEQFLVS WC*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

295 / 295

Last intron/exon boundary

3093

Theoretical NMD boundary in CDS

2748

Length of CDS

2859

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

3010

Chromosomal position

80104542

Speed

0.02 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:

17:80104542T>C_4_ENST00000714058

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:80104542T>C (GRCh38)

Gene symbol

GAA

Gene constraints

no data

Ensembl transcript ID

ENST00000714058.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-32-13T>C
g.3010T>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'C' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.297	0
	-0.419	0
(flanking)	1.073	0.002

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

13

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

17

Strand

1

Original gDNA sequence snippet

CCTCCCTGCTGAGCCCGCTTTCTTCTCCCGCAGGCCTGTAG

Altered gDNA sequence snippet

CCTCCCTGCTGAGCCCGCTTCCTTCTCCCGCAGGCCTGTAG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGVRHPPCSH RLLAVCALVS LATAALLGHI LLHDFLLVPR ELSGSSPVLE ETHPAHQQGA
SRPGPRDAQA HPGRPRAVPT QCDVPPNSRF DCAPDKAITQ EQCEARGCCY IPAKQGLQGA
QMGQPWCFFP PSYPSYKLEN LSSSEMGYTA TLTRTTPTFF PKDILTLRLD VMMETENRLH
FTIKDPANRR YEVPLETPHV HSRAPSPLYS VEFSEEPFGV IVRRQLDGRV LLNTTVAPLF
FADQFLQLST SLPSQYITGL AEHLSPLMLS TSWTRITLWN RDLAPTPGAN LYGSHPFYLA
LEDGGSAHGV FLLNSNAMDV VLQPSPALSW RSTGGILDVY IFLGPEPKSV VQQYLDVVGY
PFMPPYWGLG FHLCRWGYSS TAITRQVVEN MTRAHFPLDV QWNDLDYMDS RRDFTFNKDG
FRDFPAMVQE LHQGGRRYMM IVDPAISSSG PAGSYRPYDE GLRRGVFITN ETGQPLIGKV
WPGSTAFPDF TNPTALAWWE DMVAEFHDQV PFDGMWIDMN EPSNFIRGSE DGCPNNELEN
PPYVPGVVGG TLQAATICAS SHQFLSTHYN LHNLYGLTEA IASHRALVKA RGTRPFVISR
STFAGHGRYA GHWTGDVWSS WEQLASSVPE ILQFNLLGVP LVGADVCGFL GNTSEELCVR
WTQLGAFYPF MRNHNSLLSL PQEPYSFSEP AQQAMRKALT LRYALLPHLY TLFHQAHVAG
ETVARPLFLE FPKDSSTWTV DHQLLWGEAL LITPVLQAGK AEVTGYFPLG TWYDLQTVPV
EALGSLPPPP AAPREPAIHS EGQWVTLPAP LDTINVHLRA GYIIPLQGPG LTTTESRQQP
MALAVALTKG GEARGELFWD DGESLEVLER GAYTQVIFLA RNNTIVNELV RVTSEGAGLQ
LQKVTVLGVA TAPQQVLSNG VPVSNFTYSP DTKVLDICVS LLMGEQFLVS WC*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

177 / 177

Last intron/exon boundary

2975

Theoretical NMD boundary in CDS

2748

Length of CDS

2859

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

3010

Chromosomal position

80104542

Speed

0.02 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:

17:80104542T>C_7_ENST00000714055

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:80104542T>C (GRCh38)

Gene symbol

GAA

Gene constraints

no data

Ensembl transcript ID

ENST00000714055.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-32-13T>C
g.3010T>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'C' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.297	0
	-0.419	0
(flanking)	1.073	0.002

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

13

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

17

Strand

1

Original gDNA sequence snippet

CCTCCCTGCTGAGCCCGCTTTCTTCTCCCGCAGGCCTGTAG

Altered gDNA sequence snippet

CCTCCCTGCTGAGCCCGCTTCCTTCTCCCGCAGGCCTGTAG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGVRHPPCSH RLLAVCALVS LATAALLGHI LLHDFLLVPR ELSGSSPVLE ETHPAHQQGA
SRPGPRDAQA HPGRPRAVPT QCDVPPNSRF DCAPDKAITQ EQCEARGCCY IPAKQGLQGA
QMGQPWCFFP PSYPSYKLEN LSSSEMGYTA TLTRTTPTFF PKDILTLRLD VMMETENRLH
FTIKDPANRR YEVPLETPHV HSRAPSPLYS VEFSEEPFGV IVRRQLDGRV LLNTTVAPLF
FADQFLQLST SLPSQYITGL AEHLSPLMLS TSWTRITLWN RDLAPTPGAN LYGSHPFYLA
LEDGGSAHGV FLLNSNAMDV VLQPSPALSW RSTGGILDVY IFLGPEPKSV VQQYLDVVGY
PFMPPYWGLG FHLCRWGYSS TAITRQVVEN MTRAHFPLDV QWNDLDYMDS RRDFTFNKDG
FRDFPAMVQE LHQGGRRYMM IVDPAISSSG PAGSYRPYDE GLRRGVFITN ETGQPLIGKV
WPGSTAFPDF TNPTALAWWE DMVAEFHDQV PFDGMWIDMN EPSNFIRGSE DGCPNNELEN
PPYVPGVVGG TLQAATICAS SHQFLSTHYN LHNLYGLTEA IASHRALVKA RGTRPFVISR
STFAGHGRYA GHWTGDVWSS WEQLASSVPE ILQFNLLGVP LVGADVCGFL GNTSEELCVR
WTQLGAFYPF MRNHNSLLSL PQEPYSFSEP AQQAMRKALT LRYALLPHLY TLFHQAHVAG
ETVARPLFLE FPKDSSTWTV DHQLLWGEAL LITPVLQAGK AEVTGYFPLG TWYDLQTVPV
EALGSLPPPP AAPREPAIHS EGQWVTLPAP LDTINVHLRA GYIIPLQGPG LTTTESRQQP
MALAVALTKG GEARGELFWD DGESLEVLER GAYTQVIFLA RNNTIVNELV RVTSEGAGLQ
LQKVLDICVS LLMGEQFLVS WC*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

343 / 343

Last intron/exon boundary

3051

Theoretical NMD boundary in CDS

2658

Length of CDS

2769

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

3010

Chromosomal position

80104542

Speed

0.02 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:

17:80104542T>C_9_ENST00000714054

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:80104542T>C (GRCh38)

Gene symbol

GAA

Gene constraints

no data

Ensembl transcript ID

ENST00000714054.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-255-1207T>C
g.3010T>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'C' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.297	0
	-0.419	0
(flanking)	1.073	0.002

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

17

Strand

1

Original gDNA sequence snippet

CCTCCCTGCTGAGCCCGCTTTCTTCTCCCGCAGGCCTGTAG

Altered gDNA sequence snippet

CCTCCCTGCTGAGCCCGCTTCCTTCTCCCGCAGGCCTGTAG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MLSTSWTRIT LWNRDLAPTP GANLYGSHPF YLALEDGGSA HGVFLLNSNA MDVVLQPSPA
LSWRSTGGIL DVYIFLGPEP KSVVQQYLDV VGYPFMPPYW GLGFHLCRWG YSSTAITRQV
VENMTRAHFP LDVQWNDLDY MDSRRDFTFN KDGFRDFPAM VQELHQGGRR YMMIVDPAIS
SSGPAGSYRP YDEGLRRGVF ITNETGQPLI GKVWPGSTAF PDFTNPTALA WWEDMVAEFH
DQVPFDGMWI DMNEPSNFIR GSEDGCPNNE LENPPYVPGV VGGTLQAATI CASSHQFLST
HYNLHNLYGL TEAIASHRAL VKARGTRPFV ISRSTFAGHG RYAGHWTGDV WSSWEQLASS
VPEILQFNLL GVPLVGADVC GFLGNTSEEL CVRWTQLGAF YPFMRNHNSL LSLPQEPYSF
SEPAQQAMRK ALTLRYALLP HLYTLFHQAH VAGETVARPL FLEFPKDSST WTVDHQLLWG
EALLITPVLQ AGKAEVTGYF PLGTWYDLQT VPVEALGSLP PPPAAPREPA IHSEGQWVTL
PAPLDTINVH LRAGYIIPLQ GPGLTTTESR QQPMALAVAL TKGGEARGEL FWDDGESLEV
LERGAYTQVI FLARNNTIVN ELVRVTSEGA GLQLQKVTVL GVATAPQQVL SNGVPVSNFT
YSPDTKVLDI CVSLLMGEQF LVSWC*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

306 / 306

Last intron/exon boundary

2303

Theoretical NMD boundary in CDS

1947

Length of CDS

2058

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

3010

Chromosomal position

80104542

Speed

0.02 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:

17:80104542T>C_5_ENST00000390015

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 1|199 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:80104542T>C (GRCh38)

Gene symbol

GAA

Gene constraints

LOEUF: 1.01, LOF (oe): 0.84, misssense (oe): 1.02, synonymous (oe): 1.01 ? (gnomAD)

Ensembl transcript ID

ENST00000390015.7

Genbank transcript ID

NM_001079803 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-32-13T>C
g.3010T>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'C' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.297	0
	-0.419	0
(flanking)	1.073	0.002

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

13

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

17

Strand

1

Original gDNA sequence snippet

CCTCCCTGCTGAGCCCGCTTTCTTCTCCCGCAGGCCTGTAG

Altered gDNA sequence snippet

CCTCCCTGCTGAGCCCGCTTCCTTCTCCCGCAGGCCTGTAG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGVRHPPCSH RLLAVCALVS LATAALLGHI LLHDFLLVPR ELSGSSPVLE ETHPAHQQGA
SRPGPRDAQA HPGRPRAVPT QCDVPPNSRF DCAPDKAITQ EQCEARGCCY IPAKQGLQGA
QMGQPWCFFP PSYPSYKLEN LSSSEMGYTA TLTRTTPTFF PKDILTLRLD VMMETENRLH
FTIKDPANRR YEVPLETPHV HSRAPSPLYS VEFSEEPFGV IVRRQLDGRV LLNTTVAPLF
FADQFLQLST SLPSQYITGL AEHLSPLMLS TSWTRITLWN RDLAPTPGAN LYGSHPFYLA
LEDGGSAHGV FLLNSNAMDV VLQPSPALSW RSTGGILDVY IFLGPEPKSV VQQYLDVVGY
PFMPPYWGLG FHLCRWGYSS TAITRQVVEN MTRAHFPLDV QWNDLDYMDS RRDFTFNKDG
FRDFPAMVQE LHQGGRRYMM IVDPAISSSG PAGSYRPYDE GLRRGVFITN ETGQPLIGKV
WPGSTAFPDF TNPTALAWWE DMVAEFHDQV PFDGMWIDMN EPSNFIRGSE DGCPNNELEN
PPYVPGVVGG TLQAATICAS SHQFLSTHYN LHNLYGLTEA IASHRALVKA RGTRPFVISR
STFAGHGRYA GHWTGDVWSS WEQLASSVPE ILQFNLLGVP LVGADVCGFL GNTSEELCVR
WTQLGAFYPF MRNHNSLLSL PQEPYSFSEP AQQAMRKALT LRYALLPHLY TLFHQAHVAG
ETVARPLFLE FPKDSSTWTV DHQLLWGEAL LITPVLQAGK AEVTGYFPLG TWYDLQTVPV
EALGSLPPPP AAPREPAIHS EGQWVTLPAP LDTINVHLRA GYIIPLQGPG LTTTESRQQP
MALAVALTKG GEARGELFWD DGESLEVLER GAYTQVIFLA RNNTIVNELV RVTSEGAGLQ
LQKVTVLGVA TAPQQVLSNG VPVSNFTYSP DTKVLDICVS LLMGEQFLVS WC*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

145 / 145

Last intron/exon boundary

2943

Theoretical NMD boundary in CDS

2748

Length of CDS

2859

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

3010

Chromosomal position

80104542

Speed

0.02 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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MutationT@ster 2025

Variant:

17:80104542T>C_6_ENST00000302262

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Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 1|199 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:80104542T>C (GRCh38)

Gene symbol

GAA

Gene constraints

LOEUF: 1.01, LOF (oe): 0.84, misssense (oe): 1.02, synonymous (oe): 1.01 ? (gnomAD)

Ensembl transcript ID

ENST00000302262.8

Genbank transcript ID

NM_000152 (exact from MANE), NM_001406741 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-32-13T>C
g.3010T>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'C' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.297	0
	-0.419	0
(flanking)	1.073	0.002

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

13

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

17

Strand

1

Original gDNA sequence snippet

CCTCCCTGCTGAGCCCGCTTTCTTCTCCCGCAGGCCTGTAG

Altered gDNA sequence snippet

CCTCCCTGCTGAGCCCGCTTCCTTCTCCCGCAGGCCTGTAG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGVRHPPCSH RLLAVCALVS LATAALLGHI LLHDFLLVPR ELSGSSPVLE ETHPAHQQGA
SRPGPRDAQA HPGRPRAVPT QCDVPPNSRF DCAPDKAITQ EQCEARGCCY IPAKQGLQGA
QMGQPWCFFP PSYPSYKLEN LSSSEMGYTA TLTRTTPTFF PKDILTLRLD VMMETENRLH
FTIKDPANRR YEVPLETPHV HSRAPSPLYS VEFSEEPFGV IVRRQLDGRV LLNTTVAPLF
FADQFLQLST SLPSQYITGL AEHLSPLMLS TSWTRITLWN RDLAPTPGAN LYGSHPFYLA
LEDGGSAHGV FLLNSNAMDV VLQPSPALSW RSTGGILDVY IFLGPEPKSV VQQYLDVVGY
PFMPPYWGLG FHLCRWGYSS TAITRQVVEN MTRAHFPLDV QWNDLDYMDS RRDFTFNKDG
FRDFPAMVQE LHQGGRRYMM IVDPAISSSG PAGSYRPYDE GLRRGVFITN ETGQPLIGKV
WPGSTAFPDF TNPTALAWWE DMVAEFHDQV PFDGMWIDMN EPSNFIRGSE DGCPNNELEN
PPYVPGVVGG TLQAATICAS SHQFLSTHYN LHNLYGLTEA IASHRALVKA RGTRPFVISR
STFAGHGRYA GHWTGDVWSS WEQLASSVPE ILQFNLLGVP LVGADVCGFL GNTSEELCVR
WTQLGAFYPF MRNHNSLLSL PQEPYSFSEP AQQAMRKALT LRYALLPHLY TLFHQAHVAG
ETVARPLFLE FPKDSSTWTV DHQLLWGEAL LITPVLQAGK AEVTGYFPLG TWYDLQTVPV
EALGSLPPPP AAPREPAIHS EGQWVTLPAP LDTINVHLRA GYIIPLQGPG LTTTESRQQP
MALAVALTKG GEARGELFWD DGESLEVLER GAYTQVIFLA RNNTIVNELV RVTSEGAGLQ
LQKVTVLGVA TAPQQVLSNG VPVSNFTYSP DTKVLDICVS LLMGEQFLVS WC*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

343 / 343

Last intron/exon boundary

3141

Theoretical NMD boundary in CDS

2748

Length of CDS

2859

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

3010

Chromosomal position

80104542

Speed

0.02 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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MutationT@ster 2025

Variant:

17:80104542T>C_1_ENST00000570803

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Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 7|193 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:80104542T>C (GRCh38)

Gene symbol

GAA

Gene constraints

LOEUF: 1.04, LOF (oe): 0.67, misssense (oe): 1.06, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000570803.6

Genbank transcript ID

NM_001079804 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-32-13T>C
g.3010T>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'C' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.297	0
	-0.419	0
(flanking)	1.073	0.002

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

13

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

17

Strand

1

Original gDNA sequence snippet

CCTCCCTGCTGAGCCCGCTTTCTTCTCCCGCAGGCCTGTAG

Altered gDNA sequence snippet

CCTCCCTGCTGAGCCCGCTTCCTTCTCCCGCAGGCCTGTAG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGVRHPPCSH RLLAVCALVS LATAALLGHI LLHDFLLVPR ELSGSSPVLE ETHPAHQQGA
SRPGPRDAQA HPGRPRAVPT QCDVPPNSRF DCAPDKAITQ EQCEARGCCY IPAKQGLQGA
QMGQPWCFFP PSYPSYKLEN LSSSEMGYTA TLTRTTPTFF PKDILTLRLD VMMETENRLH
FTIKDPANRR YEVPLETPHV HSRAPSPLYS VEFSEEPFGV IVRRQLDGRV LLNTTVAPLF
FADQFLQLST SLPSQYITGL AEHLSPLMLS TSWTRITLWN RDLAPTPGAN LYGSHPFYLA
LEDGGSAHGV FLLNSNAMDV VLQPSPALSW RSTGGILDVY IFLGPEPKSV VQQYLDVVGY
PFMPPYWGLG FHLCRWGYSS TAITRQVVEN MTRAHFPLDV QWNDLDYMDS RRDFTFNKDG
FRDFPAMVQE LHQGGRRYMM IVDPAISSSG PAGSYRPYDE GLRRGVFITN ETGQPLIGKV
WPGSTAFPDF TNPTALAWWE DMVAEFHDQV PFDGMWIDMN EPSNFIRGSE DGCPNNELEN
PPYVPGVVGG TLQAATICAS SHQFLSTHYN LHNLYGLTEA IASHRALVKA RGTRPFVISR
STFAGHGRYA GHWTGDVWSS WEQLASSVPE ILQFNLLGVP LVGADVCGFL GNTSEELCVR
WTQLGAFYPF MRNHNSLLSL PQEPYSFSEP AQQAMRKALT LRYALLPHLY TLFHQAHVAG
ETVARPLFLE FPKDSSTWTV DHQLLWGEAL LITPVLQAGK AEVTGYFPLG TWYDLQTVPV
EALGSLPPPP AAPREPAIHS EGQWVTLPAP LDTINVHLRA GYIIPLQGPG LTTTESRQQP
MALAVALTKG GEARGELFWD DGESLEVLER GAYTQVIFLA RNNTIVNELV RVTSEGAGLQ
LQKVTVLGVA TAPQQVLSNG VPVSNFTYSP DTKVLDICVS LLMGEQFLVS WC*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

126 / 126

Last intron/exon boundary

2924

Theoretical NMD boundary in CDS

2748

Length of CDS

2859

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

3010

Chromosomal position

80104542

Speed

0.02 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:

17:80104542T>C_8_ENST00000577106

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 11|189 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:80104542T>C (GRCh38)

Gene symbol

GAA

Gene constraints

LOEUF: 1.15, LOF (oe): 0.68, misssense (oe): 1.10, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000577106.6

Genbank transcript ID

NM_001406742 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-32-13T>C
g.3010T>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'C' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.297	0
	-0.419	0
(flanking)	1.073	0.002

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

13

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

17

Strand

1

Original gDNA sequence snippet

CCTCCCTGCTGAGCCCGCTTTCTTCTCCCGCAGGCCTGTAG

Altered gDNA sequence snippet

CCTCCCTGCTGAGCCCGCTTCCTTCTCCCGCAGGCCTGTAG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGVRHPPCSH RLLAVCALVS LATAALLGHI LLHDFLLVPR ELSGSSPVLE ETHPAHQQGA
SRPGPRDAQA HPGRPRAVPT QCDVPPNSRF DCAPDKAITQ EQCEARGCCY IPAKQGLQGA
QMGQPWCFFP PSYPSYKLEN LSSSEMGYTA TLTRTTPTFF PKDILTLRLD VMMETENRLH
FTIKDPANRR YEVPLETPHV HSRAPSPLYS VEFSEEPFGV IVRRQLDGRV LLNTTVAPLF
FADQFLQLST SLPSQYITGL AEHLSPLMLS TSWTRITLWN RDLAPTPGAN LYGSHPFYLA
LEDGGSAHGV FLLNSNAMDV VLQPSPALSW RSTGGILDVY IFLGPEPKSV VQQYLDVVGY
PFMPPYWGLG FHLCRWGYSS TAITRQVVEN MTRAHFPLDV QWNDLDYMDS RRDFTFNKDG
FRDFPAMVQE LHQGGRRYMM IVDPAISSSG PAGSYRPYDE GLRRGVFITN ETGQPLIGKV
WPGSTAFPDF TNPTALAWWE DMVAEFHDQV PFDGMWIDMN EPSNFIRGSE DGCPNNELEN
PPYVPGVVGG TLQAATICAS SHQFLSTHYN LHNLYGLTEA IASHRALVKA RGTRPFVISR
STFAGHGRYA GHWTGDVWSS WEQLASSVPE ILQFNLLGVP LVGADVCGFL GNTSEELCVR
WTQLGAFYPF MRNHNSLLSL PQEPYSFSEP AQQAMRKALT LRYALLPHLY TLFHQAHVAG
ETVARPLFLE FPKDSSTWTV DHQLLWGEAL LITPVLQAGK AEVTGYFPLG TWYDLQTVPV
EALGSLPPPP AAPREPAIHS EGQWVTLPAP LDTINVHLRA GYIIPLQGPG LTTTESRQQP
MALAVALTKG GEARGELFWD DGESLEVLER GAYTQVIFLA RNNTIVNELV RVTSEGAGLQ
LQKVTVLGVA TAPQQVLSNG VPVSNFTYSP DTKVLDICVS LLMGEQFLVS WC*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

198 / 198

Last intron/exon boundary

2996

Theoretical NMD boundary in CDS

2748

Length of CDS

2859

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

3010

Chromosomal position

80104542

Speed

0.02 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