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: ENST00000375702
Querying Taster for transcript #2: ENST00000618960
Querying Taster for transcript #3: ENST00000307078
MT speed 0.16 s - this script 2.571517 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
ENST00000307078(MANE Select)	AXIN2	Deleterious	62\|38	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000375702	AXIN2	Deleterious	95\|5	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000618960	AXIN2	Deleterious	95\|5	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed

MutationT@ster 2025

Variant:

17:65537636G>A_3_ENST00000307078

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 62|38 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:65537636G>A (GRCh38)

Gene symbol

AXIN2

Gene constraints

LOEUF: 0.40, LOF (oe): 0.28, misssense (oe): 1.00, synonymous (oe): 1.13 ? (gnomAD)

Ensembl transcript ID

ENST00000307078.10

Genbank transcript ID

NM_004655 (exact from MANE)

UniProt / AlphaMissense peptide

AXIN2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1400C>T
g.24013C>T

AA changes

AAE:	P467L	?
Score:	98

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs908388069
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	34	34

Protein conservation

Species	Match	AA	Alignment
Human		467	G	V	G	R	Y	S	P	R	S	R	S	P	D	H	H	H	H	H	H	S	Q	Y	H	S
mutated	not conserved	467	G	V	G	R	Y	S	P	R	S	R	S	L	D	H	H	H	H	H	H	S	Q	Y	H
Ptroglodytes	all identical	467	G	V	G	R	Y	S	P	R	S	R	S	P	D	H	H	H	H	H	H	S	Q	Y	H
Mmulatta	all identical	485								R	S	R	S	P	D	H	H	H	H	H	HH	S	Q	Y	H
Fcatus	all identical	467	G	V	G	R	Y	S	P	R	S	R	S	P	D	-	H	H	H	H	H	Q	Q	H	H
Mmusculus	all identical	467	G	V	G	R	Y	S	P	R	S	R	S	P	D	H	HHQ	H	H	H	H	Q	Q	C	H
Ggallus	all identical	474	G	M	G	R	H	S	P	R	A	R	S	P	D	H	-
Trubripes	all identical	467	G	V	T	R	R	S	P	R	S	G	S	P	D	R	-	-	-	-	-	-	-	-	-
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	not conserved	454	G	M	D	S	L	Q	P	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-

Protein features

Start (aa)	End (aa)	Feature	Details
1	843	CHAIN		lost
413	476	REGION	Interaction with beta-catenin	lost
447	494	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-8.84	0
	9.352	1
(flanking)	9.352	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

17

Strand

-1

Original gDNA sequence snippet

TAGCCCCCGCTCCCGCTCCCCGGACCACCACCACCACCACC

Altered gDNA sequence snippet

TAGCCCCCGCTCCCGCTCCCTGGACCACCACCACCACCACC

Original cDNA sequence snippet

TAGCCCCCGCTCCCGCTCCCCGGACCACCACCACCACCACC

Altered cDNA sequence snippet

TAGCCCCCGCTCCCGCTCCCTGGACCACCACCACCACCACC

Wildtype AA sequence

MSSAMLVTCL PDPSSSFRED APRPPVPGEE GETPPCQPGV GKGQVTKPMP VSSNTRRNED
GLGEPEGRAS PDSPLTRWTK SLHSLLGDQD GAYLFRTFLE REKCVDTLDF WFACNGFRQM
NLKDTKTLRV AKAIYKRYIE NNSIVSKQLK PATKTYIRDG IKKQQIDSIM FDQAQTEIQS
VMEENAYQMF LTSDIYLEYV RSGGENTAYM SNGGLGSLKV VCGYLPTLNE EEEWTCADFK
CKLSPTVVGL SSKTLRATAS VRSTETVDSG YRSFKRSDPV NPYHIGSGYV FAPATSANDS
EISSDALTDD SMSMTDSSVD GIPPYRVGSK KQLQREMHRS VKANGQVSLP HFPRTHRLPK
EMTPVEPATF AAELISRLEK LKLELESRHS LEERLQQIRE DEEREGSELT LNSREGAPTQ
HPLSLLPSGS YEEDPQTILD DHLSRVLKTP GCQSPGVGRY SPRSRSPDHH HHHHSQYHSL
LPPGGKLPPA AASPGACPLL GGKGFVTKQT TKHVHHHYIH HHAVPKTKEE IEAEATQRVH
CFCPGGSEYY CYSKCKSHSK APETMPSEQF GGSRGSTLPK RNGKGTEPGL ALPAREGGAP
GGAGALQLPR EEGDRSQDVW QWMLESERQS KPKPHSAQST KKAYPLESAR SSPGERASRH
HLWGGNSGHP RTTPRAHLFT QDPAMPPLTP PNTLAQLEEA CRRLAEVSKP PKQRCCVASQ
QRDRNHSATV QTGATPFSNP SLAPEDHKEP KKLAGVHALQ ASELVVTYFF CGEEIPYRRM
LKAQSLTLGH FKEQLSKKGN YRYYFKKASD EFACGAVFEE IWEDETVLPM YEGRILGKVE
RID*

Mutated AA sequence

MSSAMLVTCL PDPSSSFRED APRPPVPGEE GETPPCQPGV GKGQVTKPMP VSSNTRRNED
GLGEPEGRAS PDSPLTRWTK SLHSLLGDQD GAYLFRTFLE REKCVDTLDF WFACNGFRQM
NLKDTKTLRV AKAIYKRYIE NNSIVSKQLK PATKTYIRDG IKKQQIDSIM FDQAQTEIQS
VMEENAYQMF LTSDIYLEYV RSGGENTAYM SNGGLGSLKV VCGYLPTLNE EEEWTCADFK
CKLSPTVVGL SSKTLRATAS VRSTETVDSG YRSFKRSDPV NPYHIGSGYV FAPATSANDS
EISSDALTDD SMSMTDSSVD GIPPYRVGSK KQLQREMHRS VKANGQVSLP HFPRTHRLPK
EMTPVEPATF AAELISRLEK LKLELESRHS LEERLQQIRE DEEREGSELT LNSREGAPTQ
HPLSLLPSGS YEEDPQTILD DHLSRVLKTP GCQSPGVGRY SPRSRSLDHH HHHHSQYHSL
LPPGGKLPPA AASPGACPLL GGKGFVTKQT TKHVHHHYIH HHAVPKTKEE IEAEATQRVH
CFCPGGSEYY CYSKCKSHSK APETMPSEQF GGSRGSTLPK RNGKGTEPGL ALPAREGGAP
GGAGALQLPR EEGDRSQDVW QWMLESERQS KPKPHSAQST KKAYPLESAR SSPGERASRH
HLWGGNSGHP RTTPRAHLFT QDPAMPPLTP PNTLAQLEEA CRRLAEVSKP PKQRCCVASQ
QRDRNHSATV QTGATPFSNP SLAPEDHKEP KKLAGVHALQ ASELVVTYFF CGEEIPYRRM
LKAQSLTLGH FKEQLSKKGN YRYYFKKASD EFACGAVFEE IWEDETVLPM YEGRILGKVE
RID*

Position of stopcodon in wt / mu CDS

2532 / 2532

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

844 / 844

Position of stopcodon in wt / mu cDNA

2847 / 2847

Position of start ATG in wt / mu cDNA

316 / 316

Last intron/exon boundary

2720

Theoretical NMD boundary in CDS

2354

Length of CDS

2532

Coding sequence (CDS) position

1400

cDNA position

1715

gDNA position

24013

Chromosomal position

65537636

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:

17:65537636G>A_1_ENST00000375702

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 95|5 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:65537636G>A (GRCh38)

Gene symbol

AXIN2

Gene constraints

LOEUF: 0.39, LOF (oe): 0.26, misssense (oe): 0.99, synonymous (oe): 1.13 ? (gnomAD)

Ensembl transcript ID

ENST00000375702.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1400C>T
g.24013C>T

AA changes

AAE:	P467L	?
Score:	98

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs908388069
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	34	34

Protein conservation

Species	Match	AA	Alignment
Human		467	G	V	G	R	Y	S	P	R	S	R	S	P	D	H	H	H	H	H	H	S	Q	Y	H	S
mutated	not conserved	467	G	V	G	R	Y	S	P	R	S	R	S	L	D	H	H	H	H	H	H	S	Q	Y	H
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)	-8.84	0
	9.352	1
(flanking)	9.352	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

17

Strand

-1

Original gDNA sequence snippet

TAGCCCCCGCTCCCGCTCCCCGGACCACCACCACCACCACC

Altered gDNA sequence snippet

TAGCCCCCGCTCCCGCTCCCTGGACCACCACCACCACCACC

Original cDNA sequence snippet

TAGCCCCCGCTCCCGCTCCCCGGACCACCACCACCACCACC

Altered cDNA sequence snippet

TAGCCCCCGCTCCCGCTCCCTGGACCACCACCACCACCACC

Wildtype AA sequence

MSSAMLVTCL PDPSSSFRED APRPPVPGEE GETPPCQPGV GKGQVTKPMP VSSNTRRNED
GLGEPEGRAS PDSPLTRWTK SLHSLLGDQD GAYLFRTFLE REKCVDTLDF WFACNGFRQM
NLKDTKTLRV AKAIYKRYIE NNSIVSKQLK PATKTYIRDG IKKQQIDSIM FDQAQTEIQS
VMEENAYQMF LTSDIYLEYV RSGGENTAYM SNGGLGSLKV VCGYLPTLNE EEEWTCADFK
CKLSPTVVGL SSKTLRATAS VRSTETVDSG YRSFKRSDPV NPYHIGSGYV FAPATSANDS
EISSDALTDD SMSMTDSSVD GIPPYRVGSK KQLQREMHRS VKANGQVSLP HFPRTHRLPK
EMTPVEPATF AAELISRLEK LKLELESRHS LEERLQQIRE DEEREGSELT LNSREGAPTQ
HPLSLLPSGS YEEDPQTILD DHLSRVLKTP GCQSPGVGRY SPRSRSPDHH HHHHSQYHSL
LPPGGKLPPA AASPGACPLL GGKGFVTKQT TKHVHHHYIH HHAVPKTKEE IEAEATQRVH
CFCPGGSEYY CYSKCKSHSK APETMPSEQF GAQSTKKAYP LESARSSPGE RASRHHLWGG
NSGHPRTTPR AHLFTQDPAM PPLTPPNTLA QLEEACRRLA EVSKPPKQRC CVASQQRDRN
HSATVQTGAT PFSNPSLAPE DHKEPKKLAG VHALQASELV VTYFFCGEEI PYRRMLKAQS
LTLGHFKEQL SKKGNYRYYF KKASDEFACG AVFEEIWEDE TVLPMYEGRI LGKVERID*

Mutated AA sequence

MSSAMLVTCL PDPSSSFRED APRPPVPGEE GETPPCQPGV GKGQVTKPMP VSSNTRRNED
GLGEPEGRAS PDSPLTRWTK SLHSLLGDQD GAYLFRTFLE REKCVDTLDF WFACNGFRQM
NLKDTKTLRV AKAIYKRYIE NNSIVSKQLK PATKTYIRDG IKKQQIDSIM FDQAQTEIQS
VMEENAYQMF LTSDIYLEYV RSGGENTAYM SNGGLGSLKV VCGYLPTLNE EEEWTCADFK
CKLSPTVVGL SSKTLRATAS VRSTETVDSG YRSFKRSDPV NPYHIGSGYV FAPATSANDS
EISSDALTDD SMSMTDSSVD GIPPYRVGSK KQLQREMHRS VKANGQVSLP HFPRTHRLPK
EMTPVEPATF AAELISRLEK LKLELESRHS LEERLQQIRE DEEREGSELT LNSREGAPTQ
HPLSLLPSGS YEEDPQTILD DHLSRVLKTP GCQSPGVGRY SPRSRSLDHH HHHHSQYHSL
LPPGGKLPPA AASPGACPLL GGKGFVTKQT TKHVHHHYIH HHAVPKTKEE IEAEATQRVH
CFCPGGSEYY CYSKCKSHSK APETMPSEQF GAQSTKKAYP LESARSSPGE RASRHHLWGG
NSGHPRTTPR AHLFTQDPAM PPLTPPNTLA QLEEACRRLA EVSKPPKQRC CVASQQRDRN
HSATVQTGAT PFSNPSLAPE DHKEPKKLAG VHALQASELV VTYFFCGEEI PYRRMLKAQS
LTLGHFKEQL SKKGNYRYYF KKASDEFACG AVFEEIWEDE TVLPMYEGRI LGKVERID*

Position of stopcodon in wt / mu CDS

2337 / 2337

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

779 / 779

Position of stopcodon in wt / mu cDNA

2446 / 2446

Position of start ATG in wt / mu cDNA

110 / 110

Last intron/exon boundary

2319

Theoretical NMD boundary in CDS

2159

Length of CDS

2337

Coding sequence (CDS) position

1400

cDNA position

1509

gDNA position

24013

Chromosomal position

65537636

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:

17:65537636G>A_2_ENST00000618960

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 95|5 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:65537636G>A (GRCh38)

Gene symbol

AXIN2

Gene constraints

LOEUF: 0.39, LOF (oe): 0.26, misssense (oe): 0.99, synonymous (oe): 1.13 ? (gnomAD)

Ensembl transcript ID

ENST00000618960.4

Genbank transcript ID

NM_001363813 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1400C>T
g.24013C>T

AA changes

AAE:	P467L	?
Score:	98

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs908388069
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	34	34

Protein conservation

Species	Match	AA	Alignment
Human		467	G	V	G	R	Y	S	P	R	S	R	S	P	D	H	H	H	H	H	H	S	Q	Y	H	S
mutated	not conserved	467	G	V	G	R	Y	S	P	R	S	R	S	L	D	H	H	H	H	H	H	S	Q	Y	H
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)	-8.84	0
	9.352	1
(flanking)	9.352	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

17

Strand

-1

Original gDNA sequence snippet

TAGCCCCCGCTCCCGCTCCCCGGACCACCACCACCACCACC

Altered gDNA sequence snippet

TAGCCCCCGCTCCCGCTCCCTGGACCACCACCACCACCACC

Original cDNA sequence snippet

TAGCCCCCGCTCCCGCTCCCCGGACCACCACCACCACCACC

Altered cDNA sequence snippet

TAGCCCCCGCTCCCGCTCCCTGGACCACCACCACCACCACC

Wildtype AA sequence

MSSAMLVTCL PDPSSSFRED APRPPVPGEE GETPPCQPGV GKGQVTKPMP VSSNTRRNED
GLGEPEGRAS PDSPLTRWTK SLHSLLGDQD GAYLFRTFLE REKCVDTLDF WFACNGFRQM
NLKDTKTLRV AKAIYKRYIE NNSIVSKQLK PATKTYIRDG IKKQQIDSIM FDQAQTEIQS
VMEENAYQMF LTSDIYLEYV RSGGENTAYM SNGGLGSLKV VCGYLPTLNE EEEWTCADFK
CKLSPTVVGL SSKTLRATAS VRSTETVDSG YRSFKRSDPV NPYHIGSGYV FAPATSANDS
EISSDALTDD SMSMTDSSVD GIPPYRVGSK KQLQREMHRS VKANGQVSLP HFPRTHRLPK
EMTPVEPATF AAELISRLEK LKLELESRHS LEERLQQIRE DEEREGSELT LNSREGAPTQ
HPLSLLPSGS YEEDPQTILD DHLSRVLKTP GCQSPGVGRY SPRSRSPDHH HHHHSQYHSL
LPPGGKLPPA AASPGACPLL GGKGFVTKQT TKHVHHHYIH HHAVPKTKEE IEAEATQRVH
CFCPGGSEYY CYSKCKSHSK APETMPSEQF GAQSTKKAYP LESARSSPGE RASRHHLWGG
NSGHPRTTPR AHLFTQDPAM PPLTPPNTLA QLEEACRRLA EVSKPPKQRC CVASQQRDRN
HSATVQTGAT PFSNPSLAPE DHKEPKKLAG VHALQASELV VTYFFCGEEI PYRRMLKAQS
LTLGHFKEQL SKKGNYRYYF KKASDEFACG AVFEEIWEDE TVLPMYEGRI LGKVERID*

Mutated AA sequence

MSSAMLVTCL PDPSSSFRED APRPPVPGEE GETPPCQPGV GKGQVTKPMP VSSNTRRNED
GLGEPEGRAS PDSPLTRWTK SLHSLLGDQD GAYLFRTFLE REKCVDTLDF WFACNGFRQM
NLKDTKTLRV AKAIYKRYIE NNSIVSKQLK PATKTYIRDG IKKQQIDSIM FDQAQTEIQS
VMEENAYQMF LTSDIYLEYV RSGGENTAYM SNGGLGSLKV VCGYLPTLNE EEEWTCADFK
CKLSPTVVGL SSKTLRATAS VRSTETVDSG YRSFKRSDPV NPYHIGSGYV FAPATSANDS
EISSDALTDD SMSMTDSSVD GIPPYRVGSK KQLQREMHRS VKANGQVSLP HFPRTHRLPK
EMTPVEPATF AAELISRLEK LKLELESRHS LEERLQQIRE DEEREGSELT LNSREGAPTQ
HPLSLLPSGS YEEDPQTILD DHLSRVLKTP GCQSPGVGRY SPRSRSLDHH HHHHSQYHSL
LPPGGKLPPA AASPGACPLL GGKGFVTKQT TKHVHHHYIH HHAVPKTKEE IEAEATQRVH
CFCPGGSEYY CYSKCKSHSK APETMPSEQF GAQSTKKAYP LESARSSPGE RASRHHLWGG
NSGHPRTTPR AHLFTQDPAM PPLTPPNTLA QLEEACRRLA EVSKPPKQRC CVASQQRDRN
HSATVQTGAT PFSNPSLAPE DHKEPKKLAG VHALQASELV VTYFFCGEEI PYRRMLKAQS
LTLGHFKEQL SKKGNYRYYF KKASDEFACG AVFEEIWEDE TVLPMYEGRI LGKVERID*

Position of stopcodon in wt / mu CDS

2337 / 2337

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

779 / 779

Position of stopcodon in wt / mu cDNA

2651 / 2651

Position of start ATG in wt / mu cDNA

315 / 315

Last intron/exon boundary

2524

Theoretical NMD boundary in CDS

2159

Length of CDS

2337

Coding sequence (CDS) position

1400

cDNA position

1714

gDNA position

24013

Chromosomal position

65537636

Speed

0.07 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