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: ENST00000672613
Querying Taster for transcript #2: ENST00000673436
Querying Taster for transcript #3: ENST00000535949
Querying Taster for transcript #4: ENST00000542287
Querying Taster for transcript #5: ENST00000647305
Querying Taster for transcript #6: ENST00000616825
Querying Taster for transcript #7: ENST00000550104
Querying Taster for transcript #8: ENST00000644883
Querying Taster for transcript #9: ENST00000389153
Querying Taster for transcript #10: ENST00000608853
Querying Taster for transcript #11: ENST00000643669
Querying Taster for transcript #12: ENST00000673449
Querying Taster for transcript #13: ENST00000673283
Querying Taster for transcript #14: ENST00000673557
MT speed 0.18 s - this script 2.678273 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000672613	ATXN2	Deleterious	200\|0	without_aae	No	Single base exchange	N/A	Splice site lost
ENST00000673436(MANE Select)	ATXN2	Deleterious	200\|0	without_aae	No	Single base exchange	N/A	Splice site lost
ENST00000535949	ATXN2	Deleterious	200\|0	without_aae	No	Single base exchange	N/A	Splice site lost
ENST00000542287	ATXN2	Deleterious	200\|0	without_aae	No	Single base exchange	N/A	Splice site lost
ENST00000647305	ATXN2	Deleterious	200\|0	without_aae	No	Single base exchange	N/A	Splice site lost
ENST00000616825	ATXN2	Deleterious	200\|0	without_aae	No	Single base exchange	N/A	Splice site lost
ENST00000550104	ATXN2	Deleterious	200\|0	without_aae	No	Single base exchange	N/A	Splice site lost
ENST00000644883	ATXN2	Deleterious	200\|0	without_aae	No	Single base exchange	N/A	Splice site lost
ENST00000389153	ATXN2	Deleterious	200\|0	without_aae	No	Single base exchange	N/A	Splice site lost
ENST00000608853	ATXN2	Deleterious	200\|0	without_aae	No	Single base exchange	N/A	Splice site lost
ENST00000643669	ATXN2	Deleterious	200\|0	without_aae	No	Single base exchange	N/A	Splice site lost
ENST00000673449	ATXN2	Deleterious	200\|0	without_aae	No	Single base exchange	N/A	Splice site lost
ENST00000673283	ATXN2	Deleterious	200\|0	without_aae	No	Single base exchange	N/A	Splice site lost
ENST00000673557	ATXN2	Deleterious	200\|0	without_aae	No	Single base exchange	N/A	Splice site lost

MutationT@ster 2025

Variant:

12:111485866C>T_1_ENST00000672613

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Splice site lost

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

Analysed issue

Analysis result

Variant

Chr12:111485866C>T (GRCh38)

Gene symbol

ATXN2

Gene constraints

LOEUF: 0.32, LOF (oe): 0.23, misssense (oe): 0.80, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000672613.1

Genbank transcript ID

NM_002973 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.2305-1G>A
g.113811G>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202116535
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	151	151

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.097	1
	6.413	1
(flanking)	6.502	1

?

Splice sites

alteration within used splice site, likely to disturb normal splicing

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor lost	113811	wt: 0.00 / mu: 0.00	-	wt: gtttttgtag\|CCAAAGCCTT mu: gtttttgtaa\|CCAAAGCCTT

Distance from splice site

1

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

12

Strand

-1

Original gDNA sequence snippet

AATTTATTGTTGTTTTTGTAGCCAAAGCCTTCTACTACCCC

Altered gDNA sequence snippet

AATTTATTGTTGTTTTTGTAACCAAAGCCTTCTACTACCCC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSLKPQQQQQ QQQQQQQQQQ QQQQQQQQPP PAAANVRKPG GSGLLASPAA APSPSSSSVS
SSSATAPSSV VAATSGGGRP GLGRGRNSNK GLPQSTISFD GIYANMRMVH ILTSVVGSKC
EVQVKNGGIY EGVFKTYSPK CDLVLDAAHE KSTESSSGPK REEIMESILF KCSDFVVVQF
KDMDSSYAKR DAFTDSAISA KVNGEHKEKD LEPWDAGELT ANEELEALEN DVSNGWDPND
MFRYNEENYG VVSTYDSSLS SYTVPLERDN SEEFLKREAR ANQLAEEIES SAQYKARVAL
ENDDRSEEEK YTAVQRNSSE REGHSINTRE NKYIPPGQRN REVISWGSGR QNSPRMGQPG
SGSMPSRSTS HTSDFNPNSG SDQRVVNGGV PWPSPCPSPS SRPPSRYQSG PNSLPPRAAT
PTRPPSRPPS RPSRPPSHPS AHGSPAPVST MPKRMSSEGP PRMSPKAQRH PRNHRVSAGR
GSISSGLEFV SHNPPSEAAT PPVARTSPSG GTWSSVVSGV PRLSPKTHRP RSPRQNSIGN
TPSGPVLASP QAGIIPTEAV AMPIPAASPT PASPASNRAV TPSSEAKDSR LQDQRQNSPA
GNKENIKPNE TSPSFSKAEN KGISPVVSEH RKQIDDLKKF KNDFRLQPSS TSESMDQLLN
KNREGEKSRD LIKDKIEPSA KDSFIENSSS NCTSGSSKPN SPSISPSILS NTEHKRGPEV
TSQGVQTSSP ACKQEKDDKE EKKDAAEQVR KSTLNPNAKE FNPRSFSQPK PSTTPTSPRP
QAQPSPSMVG HQQPTPVYTQ PVCFAPNMMY PVPVSPGVQP LYPIPMTPMP VNQAKTYRAV
PNMPQQRQDQ HHQSAMMHPA SAAGPPIAAT PPAYSTQYVA YSPQQFPNQP LVQHVPHYQS
QHPHVYSPVI QGNARMMAPP THAQPGLVSS SATQYGAHEQ THAMYACPKL PYNKETSPSF
YFAISTGSLA QQYAHPNATL HPHTPHPQPS ATPTGQQQSQ HGGSHPAPSP VQHHQHQAAQ
ALHLASPQQQ SAIYHAGLAP TPPSMTPASN TQSPQNSFPA AQQTVFTIHP SHVQPAYTNP
PHMAHVPQAH VQSGMVPSHP TAHAPMMLMT TQPPGGPQAA LAQSALQPIP VSTTAHFPYM
THPSVQAHHQ QQL*

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

282 / 282

Last intron/exon boundary

3714

Theoretical NMD boundary in CDS

3382

Length of CDS

3462

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

113811

Chromosomal position

111485866

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:

12:111485866C>T_2_ENST00000673436

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Splice site lost

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

Analysed issue

Analysis result

Variant

Chr12:111485866C>T (GRCh38)

Gene symbol

ATXN2

Gene constraints

LOEUF: 0.32, LOF (oe): 0.23, misssense (oe): 0.80, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000673436.1

Genbank transcript ID

NM_001372574 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.2305-1G>A
g.113811G>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202116535
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	151	151

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.097	1
	6.413	1
(flanking)	6.502	1

?

Splice sites

alteration within used splice site, likely to disturb normal splicing

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor lost	113811	wt: 0.00 / mu: 0.00	-	wt: gtttttgtag\|CCAAAGCCTT mu: gtttttgtaa\|CCAAAGCCTT

Distance from splice site

1

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

12

Strand

-1

Original gDNA sequence snippet

AATTTATTGTTGTTTTTGTAGCCAAAGCCTTCTACTACCCC

Altered gDNA sequence snippet

AATTTATTGTTGTTTTTGTAACCAAAGCCTTCTACTACCCC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSLKPQQQQQ QQQQQQQQQQ QQQQQQQQPP PAAANVRKPG GSGLLASPAA APSPSSSSVS
SSSATAPSSV VAATSGGGRP GLGRGRNSNK GLPQSTISFD GIYANMRMVH ILTSVVGSKC
EVQVKNGGIY EGVFKTYSPK CDLVLDAAHE KSTESSSGPK REEIMESILF KCSDFVVVQF
KDMDSSYAKR DAFTDSAISA KVNGEHKEKD LEPWDAGELT ANEELEALEN DVSNGWDPND
MFRYNEENYG VVSTYDSSLS SYTVPLERDN SEEFLKREAR ANQLAEEIES SAQYKARVAL
ENDDRSEEEK YTAVQRNSSE REGHSINTRE NKYIPPGQRN REVISWGSGR QNSPRMGQPG
SGSMPSRSTS HTSDFNPNSG SDQRVVNGGV PWPSPCPSPS SRPPSRYQSG PNSLPPRAAT
PTRPPSRPPS RPSRPPSHPS AHGSPAPVST MPKRMSSEGP PRMSPKAQRH PRNHRVSAGR
GSISSGLEFV SHNPPSEAAT PPVARTSPSG GTWSSVVSGV PRLSPKTHRP RSPRQNSIGN
TPSGPVLASP QAGIIPTEAV AMPIPAASPT PASPASNRAV TPSSEAKDSR LQDQRQNSPA
GNKENIKPNE TSPSFSKAEN KGISPVVSEH RKQIDDLKKF KNDFRLQPSS TSESMDQLLN
KNREGEKSRD LIKDKIEPSA KDSFIENSSS NCTSGSSKPN SPSISPSILS NTEHKRGPEV
TSQGVQTSSP ACKQEKDDKE EKKDAAEQVR KSTLNPNAKE FNPRSFSQPK PSTTPTSPRP
QAQPSPSMVG HQQPTPVYTQ PVCFAPNMMY PVPVSPGVQP LYPIPMTPMP VNQAKTYRAG
KVPNMPQQRQ DQHHQSAMMH PASAAGPPIA ATPPAYSTQY VAYSPQQFPN QPLVQHVPHY
QSQHPHVYSP VIQGNARMMA PPTHAQPGLV SSSATQYGAH EQTHAMYACP KLPYNKETSP
SFYFAISTGS LAQQYAHPNA TLHPHTPHPQ PSATPTGQQQ SQHGGSHPAP SPVQHHQHQA
AQALHLASPQ QQSAIYHAGL APTPPSMTPA SNTQSPQNSF PAAQQTVFTI HPSHVQPAYT
NPPHMAHVPQ AHVQSGMVPS HPTAHAPMML MTTQPPGGPQ AALAQSALQP IPVSTTAHFP
YMTHPSVQAH HQQQL*

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

282 / 282

Last intron/exon boundary

3720

Theoretical NMD boundary in CDS

3388

Length of CDS

3468

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

113811

Chromosomal position

111485866

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:

12:111485866C>T_3_ENST00000535949

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Splice site lost

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

Analysed issue

Analysis result

Variant

Chr12:111485866C>T (GRCh38)

Gene symbol

ATXN2

Gene constraints

LOEUF: 0.29, LOF (oe): 0.20, misssense (oe): 0.77, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000535949.5

Genbank transcript ID

NM_001310123 (by similarity)

UniProt / AlphaMissense peptide

ATX2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1918-1G>A
g.113811G>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202116535
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	151	151

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.097	1
	6.413	1
(flanking)	6.502	1

?

Splice sites

alteration within used splice site, likely to disturb normal splicing

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor lost	113811	wt: 0.00 / mu: 0.00	-	wt: gtttttgtag\|CCAAAGCCTT mu: gtttttgtaa\|CCAAAGCCTT

Distance from splice site

1

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

12

Strand

-1

Original gDNA sequence snippet

AATTTATTGTTGTTTTTGTAGCCAAAGCCTTCTACTACCCC

Altered gDNA sequence snippet

AATTTATTGTTGTTTTTGTAACCAAAGCCTTCTACTACCCC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MRMVHILTSV VCDLVLDAAH EKSTESSSGP KREEIMESIL FKCSDFVVVQ FKDMDSSYAK
RDAFTDSAIS AKVNGEHKEK DLEPWDAGEL TANEELEALE NDVSNGWDPN DMFRYNEENY
GVVSTYDSSL SSYTVPLERD NSEEFLKREA RANQLAEEIE SSAQYKARVA LENDDRSEEE
KYTAVQRNSS EREGHSINTR ENKYIPPGQR NREVISWGSG RQNSPRMGQP GSGSMPSRST
SHTSDFNPNS GSDQRVVNGG VPWPSPCPSP SSRPPSRYQS GPNSLPPRAA TPTRPPSRPP
SRPSRPPSHP SAHGSPAPVS TMPKRMSSEG PPRMSPKAQR HPRNHRVSAG RGSISSGLEF
VSHNPPSEAA TPPVARTSPS GGTWSSVVSG VPRLSPKTHR PRSPRQNSIG NTPSGPVLAS
PQAGIIPTEA VAMPIPAASP TPASPASNRA VTPSSEAKDS RLQDQRQNSP AGNKENIKPN
ETSPSFSKAE NKGISPVVSE HRKQIDDLKK FKNDFRLQPS STSESMDQLL NKNREGEKSR
DLIKDKIEPS AKDSFIENSS SNCTSGSSKP NSPSISPSIL SNTEHKRGPE VTSQGVQTSS
PACKQEKDDK EEKKDAAEQV RKSTLNPNAK EFNPRSFSQP KPSTTPTSPR PQAQPSPSMV
GHQQPTPVYT QPVCFAPNMM YPVPVSPGVQ PLYPIPMTPM PVNQAKTYRA VPNMPQQRQD
QHHQSAMMHP ASAAGPPIAA TPPAYSTQYV AYSPQQFPNQ PLVQHVPHYQ SQHPHVYSPV
IQGNARMMAP PTHAQPGLVS SSATQYGAHE QTHAMYVSTG SLAQQYAHPN ATLHPHTPHP
QPSATPTGQQ QSQHGGSHPA PSPVQHHQHQ AAQALHLASP QQQSAIYHAG LAPTPPSMTP
ASNTQSPQNS FPAAQQTVFT IHPSHVQPAY TNPPHMAHVP QAHVQSGMVP SHPTAHAPMM
LMTTQPPGGP QAALAQSALQ PIPVSTTAHF PYMTHPSVQA HHQQQL*

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

127 / 127

Last intron/exon boundary

3118

Theoretical NMD boundary in CDS

2941

Length of CDS

3021

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

113811

Chromosomal position

111485866

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:

12:111485866C>T_4_ENST00000542287

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Splice site lost

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

Analysed issue

Analysis result

Variant

Chr12:111485866C>T (GRCh38)

Gene symbol

ATXN2

Gene constraints

LOEUF: 0.29, LOF (oe): 0.20, misssense (oe): 0.77, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000542287.6

Genbank transcript ID

NM_001310121 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1990-1G>A
g.113811G>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202116535
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	151	151

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.097	1
	6.413	1
(flanking)	6.502	1

?

Splice sites

alteration within used splice site, likely to disturb normal splicing

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor lost	113811	wt: 0.00 / mu: 0.00	-	wt: gtttttgtag\|CCAAAGCCTT mu: gtttttgtaa\|CCAAAGCCTT

Distance from splice site

1

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

12

Strand

-1

Original gDNA sequence snippet

AATTTATTGTTGTTTTTGTAGCCAAAGCCTTCTACTACCCC

Altered gDNA sequence snippet

AATTTATTGTTGTTTTTGTAACCAAAGCCTTCTACTACCCC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MRMVHILTSV VGSKCEVQVK NGGIYEGVFK TYSPKCDLVL DAAHEKSTES SSGPKREEIM
ESILFKCSDF VVVQFKDMDS SYAKRDAFTD SAISAKVNGE HKEKDLEPWD AGELTANEEL
EALENDVSNG WDPNDMFRYN EENYGVVSTY DSSLSSYTVP LERDNSEEFL KREARANQLA
EEIESSAQYK ARVALENDDR SEEEKYTAVQ RNSSEREGHS INTRENKYIP PGQRNREVIS
WGSGRQNSPR MGQPGSGSMP SRSTSHTSDF NPNSGSDQRV VNGGVPWPSP CPSPSSRPPS
RYQSGPNSLP PRAATPTRPP SRPPSRPSRP PSHPSAHGSP APVSTMPKRM SSEGPPRMSP
KAQRHPRNHR VSAGRGSISS GLEFVSHNPP SEAATPPVAR TSPSGGTWSS VVSGVPRLSP
KTHRPRSPRQ NSIGNTPSGP VLASPQAGII PTEAVAMPIP AASPTPASPA SNRAVTPSSE
AKDSRLQDQR QNSPAGNKEN IKPNETSPSF SKAENKGISP VVSEHRKQID DLKKFKNDFR
LQPSSTSESM DQLLNKNREG EKSRDLIKDK IEPSAKDSFI ENSSSNCTSG SSKPNSPSIS
PSILSNTEHK RGPEVTSQGV QTSSPACKQE KDDKEEKKDA AEQVRKSTLN PNAKEFNPRS
FSQPKPSTTP TSPRPQAQPS PSMVGHQQPT PVYTQPVCFA PNMMYPVPVS PGVQPLYPIP
MTPMPVNQAK TYRAVPNMPQ QRQDQHHQSA MMHPASAAGP PIAATPPAYS TQYVAYSPQQ
FPNQPLVQHV PHYQSQHPHV YSPVIQGNAR MMAPPTHAQP GLVSSSATQY GAHEQTHAMY
ACPKLPYNKE TSPSFYFAIS TGSLAQQYAH PNATLHPHTP HPQPSATPTG QQQSQHGGSH
PAPSPVQHHQ HQAAQALHLA SPQQQSAIYH AGLAPTPPSM TPASNTQSPQ NSFPAAQQTV
FTIHPSHVQP AYTNPPHMAH VPQCASEALA RCGLEMRLSW IYLSEGYLAH VQSGMVPSHP
TAHAPMMLMT TQPPGGPQAA LAQSALQPIP VSTTAHFPYM THPSVQAHHQ QQL*

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

164 / 164

Last intron/exon boundary

3356

Theoretical NMD boundary in CDS

3142

Length of CDS

3222

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

113811

Chromosomal position

111485866

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:

12:111485866C>T_5_ENST00000647305

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Splice site lost

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

Analysed issue

Analysis result

Variant

Chr12:111485866C>T (GRCh38)

Gene symbol

ATXN2

Gene constraints

LOEUF: 0.25, LOF (oe): 0.15, misssense (oe): 0.83, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000647305.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.2305-1G>A
g.113811G>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202116535
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	151	151

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.097	1
	6.413	1
(flanking)	6.502	1

?

Splice sites

alteration within used splice site, likely to disturb normal splicing

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor lost	113811	wt: 0.00 / mu: 0.00	-	wt: gtttttgtag\|CCAAAGCCTT mu: gtttttgtaa\|CCAAAGCCTT

Distance from splice site

1

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

12

Strand

-1

Original gDNA sequence snippet

AATTTATTGTTGTTTTTGTAGCCAAAGCCTTCTACTACCCC

Altered gDNA sequence snippet

AATTTATTGTTGTTTTTGTAACCAAAGCCTTCTACTACCCC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSLKPQQQQQ QQQQQQQQQQ QQQQQQQQPP PAAANVRKPG GSGLLASPAA APSPSSSSVS
SSSATAPSSV VAATSGGGRP GLGRGRNSNK GLPQSTISFD GIYANMRMVH ILTSVVGSKC
EVQVKNGGIY EGVFKTYSPK CDLVLDAAHE KSTESSSGPK REEIMESILF KCSDFVVVQF
KDMDSSYAKR DAFTDSAISA KVNGEHKEKD LEPWDAGELT ANEELEALEN DVSNGWDPND
MFRYNEENYG VVSTYDSSLS SYTVPLERDN SEEFLKREAR ANQLAEEIES SAQYKARVAL
ENDDRSEEEK YTAVQRNSSE REGHSINTRE NKYIPPGQRN REVISWGSGR QNSPRMGQPG
SGSMPSRSTS HTSDFNPNSG SDQRVVNGGV PWPSPCPSPS SRPPSRYQSG PNSLPPRAAT
PTRPPSRPPS RPSRPPSHPS AHGSPAPVST MPKRMSSEGP PRMSPKAQRH PRNHRVSAGR
GSISSGLEFV SHNPPSEAAT PPVARTSPSG GTWSSVVSGV PRLSPKTHRP RSPRQNSIGN
TPSGPVLASP QAGIIPTEAV AMPIPAASPT PASPASNRAV TPSSEAKDSR LQDQRQNSPA
GNKENIKPNE TSPSFSKAEN KGISPVVSEH RKQIDDLKKF KNDFRLQPSS TSESMDQLLN
KNREGEKSRD LIKDKIEPSA KDSFIENSSS NCTSGSSKPN SPSISPSILS NTEHKRGPEV
TSQGVQTSSP ACKQEKDDKE EKKDAAEQVR KSTLNPNAKE FNPRSFSQPK PSTTPTSPRP
QAQPSPSMVG HQQPTPVYTQ PVCFAPNMMY PVPVSPGVQP LYPIPMTPMP VNQAKTYRAV
KYLELELLRY VPNMPQQRQD QHHQSAMMHP ASAAGPPIAA TPPAYSTQYV AYSPQQFPNQ
PLVQHVPHYQ SQHPHVYSPV IQGNARMMAP PTHAQPGLVS SSATQYGAHE QTHAMYGRKH
FVCLFQCV*

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

89 / 89

Last intron/exon boundary

2824

Theoretical NMD boundary in CDS

2685

Length of CDS

2907

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

113811

Chromosomal position

111485866

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:

12:111485866C>T_6_ENST00000616825

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Splice site lost

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

Analysed issue

Analysis result

Variant

Chr12:111485866C>T (GRCh38)

Gene symbol

ATXN2

Gene constraints

LOEUF: 0.29, LOF (oe): 0.20, misssense (oe): 0.77, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000616825.4

Genbank transcript ID

UniProt / AlphaMissense peptide

ATX2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1918-1G>A
g.113811G>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202116535
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	151	151

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.097	1
	6.413	1
(flanking)	6.502	1

?

Splice sites

alteration within used splice site, likely to disturb normal splicing

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor lost	113811	wt: 0.00 / mu: 0.00	-	wt: gtttttgtag\|CCAAAGCCTT mu: gtttttgtaa\|CCAAAGCCTT

Distance from splice site

1

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

12

Strand

-1

Original gDNA sequence snippet

AATTTATTGTTGTTTTTGTAGCCAAAGCCTTCTACTACCCC

Altered gDNA sequence snippet

AATTTATTGTTGTTTTTGTAACCAAAGCCTTCTACTACCCC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MRMVHILTSV VCDLVLDAAH EKSTESSSGP KREEIMESIL FKCSDFVVVQ FKDMDSSYAK
RDAFTDSAIS AKVNGEHKEK DLEPWDAGEL TANEELEALE NDVSNGWDPN DMFRYNEENY
GVVSTYDSSL SSYTVPLERD NSEEFLKREA RANQLAEEIE SSAQYKARVA LENDDRSEEE
KYTAVQRNSS EREGHSINTR ENKYIPPGQR NREVISWGSG RQNSPRMGQP GSGSMPSRST
SHTSDFNPNS GSDQRVVNGG VPWPSPCPSP SSRPPSRYQS GPNSLPPRAA TPTRPPSRPP
SRPSRPPSHP SAHGSPAPVS TMPKRMSSEG PPRMSPKAQR HPRNHRVSAG RGSISSGLEF
VSHNPPSEAA TPPVARTSPS GGTWSSVVSG VPRLSPKTHR PRSPRQNSIG NTPSGPVLAS
PQAGIIPTEA VAMPIPAASP TPASPASNRA VTPSSEAKDS RLQDQRQNSP AGNKENIKPN
ETSPSFSKAE NKGISPVVSE HRKQIDDLKK FKNDFRLQPS STSESMDQLL NKNREGEKSR
DLIKDKIEPS AKDSFIENSS SNCTSGSSKP NSPSISPSIL SNTEHKRGPE VTSQGVQTSS
PACKQEKDDK EEKKDAAEQV RKSTLNPNAK EFNPRSFSQP KPSTTPTSPR PQAQPSPSMV
GHQQPTPVYT QPVCFAPNMM YPVPVSPGVQ PLYPIPMTPM PVNQAKTYRA VPNMPQQRQD
QHHQSAMMHP ASAAGPPIAA TPPAYSTQYV AYSPQQFPNQ PLVQHVPHYQ SQHPHVYSPV
IQGNARMMAP PTHAQPGLVS SSATQYGAHE QTHAMYVSTG SLAQQYAHPN ATLHPHTPHP
QPSATPTGQQ QSQHGGSHPA PSPVQHHQHQ AAQALHLASP QQQSAIYHAG LAPTPPSMTP
ASNTQSPQNS FPAAQQTVFT IHPSHVQPAY TNPPHMAHVP QAHVQSGMVP SHPTAHAPMM
LMTTQPPGGP QAALAQSALQ PIPVSTTAHF PYMTHPSVQA HHQQQL*

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

958 / 958

Last intron/exon boundary

3949

Theoretical NMD boundary in CDS

2941

Length of CDS

3021

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

113811

Chromosomal position

111485866

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:

12:111485866C>T_7_ENST00000550104

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Splice site lost

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

Analysed issue

Analysis result

Variant

Chr12:111485866C>T (GRCh38)

Gene symbol

ATXN2

Gene constraints

LOEUF: 0.40, LOF (oe): 0.29, misssense (oe): 0.90, synonymous (oe): 1.08 ? (gnomAD)

Ensembl transcript ID

ENST00000550104.5

Genbank transcript ID

UniProt / AlphaMissense peptide

ATX2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

intron

DNA changes

c.2785-1G>A
g.113811G>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202116535
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	151	151

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.097	1
	6.413	1
(flanking)	6.502	1

?

Splice sites

alteration within used splice site, likely to disturb normal splicing

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor lost	113811	wt: 0.00 / mu: 0.00	-	wt: gtttttgtag\|CCAAAGCCTT mu: gtttttgtaa\|CCAAAGCCTT

Distance from splice site

1

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

12

Strand

-1

Original gDNA sequence snippet

AATTTATTGTTGTTTTTGTAGCCAAAGCCTTCTACTACCCC

Altered gDNA sequence snippet

AATTTATTGTTGTTTTTGTAACCAAAGCCTTCTACTACCCC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MRSAAAAPRS PAVATESRRF AAARWPGWRS LQRPARRSGR GGGGAAPGPY PSAAPPPPGP
GPPPSRQSSP PSASDCFGSN GNGGGAFRPG SRRLLGLGGP PRPFVVLLLP LASPGAPPAA
PTRASPLGAR ASPPRSGVSL ARPAPGCPRP ACEPVYGPLT MSLKPQQQQQ QQQQQQQQQQ
QQQQQQQQPP PAAANVRKPG GSGLLASPAA APSPSSSSVS SSSATAPSSV VAATSGGGRP
GLGRGRNSNK GLPQSTISFD GIYANMRMVH ILTSVVGSKC EVQVKNGGIY EGVFKTYSPK
CDLVLDAAHE KSTESSSGPK REEIMESILF KCSDFVVVQF KDMDSSYAKR DAFTDSAISA
KVNGEHKEKD LEPWDAGELT ANEELEALEN DVSNGWDPND MFRYNEENYG VVSTYDSSLS
SYTVPLERDN SEEFLKREAR ANQLAEEIES SAQYKARVAL ENDDRSEEEK YTAVQRNSSE
REGHSINTRE NKYIPPGQRN REVISWGSGR QNSPRMGQPG SGSMPSRSTS HTSDFNPNSG
SDQRVVNGGV PWPSPCPSPS SRPPSRYQSG PNSLPPRAAT PTRPPSRPPS RPSRPPSHPS
AHGSPAPVST MPKRMSSEGP PRMSPKAQRH PRNHRVSAGR GSISSGLEFV SHNPPSEAAT
PPVARTSPSG GTWSSVVSGV PRLSPKTHRP RSPRQNSIGN TPSGPVLASP QAGIIPTEAV
AMPIPAASPT PASPASNRAV TPSSEAKDSR LQDQRQNSPA GNKENIKPNE TSPSFSKAEN
KGISPVVSEH RKQIDDLKKF KNDFRLQPSS TSESMDQLLN KNREGEKSRD LIKDKIEPSA
KDSFIENSSS NCTSGSSKPN SPSISPSILS NTEHKRGPEV TSQGVQTSSP ACKQEKDDKE
EKKDAAEQVR KSTLNPNAKE FNPRSFSQPK PSTTPTSPRP QAQPSPSMVG HQQPTPVYTQ
PVCFAPNMMY PVPVSPGVQP LYPIPMTPMP VNQAKTYRAV PNMPQQRQDQ HHQSAMMHPA
SAAGPPIAAT PPAYSTQYVA YSPQQFPNQP LVQHVPHYQS QHPHVYSPVI QGNARMMAPP
THAQPGLVSS SATQYGAHEQ THAMYACPKL PYNKETSPSF YFAISTGSLA QQYAHPNATL
HPHTPHPQPS ATPTGQQQSQ HGGSHPAPSP VQHHQHQAAQ ALHLASPQQQ SAIYHAGLAP
TPPSMTPASN TQSPQNSFPA AQQTVFTIHP SHVQPAYTNP PHMAHVPQAH VQSGMVPSHP
TAHAPMMLMT TQPPGGPQAA LAQSALQPIP VSTTAHFPYM THPSVQAHHQ QQL*

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

163 / 163

Last intron/exon boundary

4075

Theoretical NMD boundary in CDS

3862

Length of CDS

3942

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

113811

Chromosomal position

111485866

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:

12:111485866C>T_8_ENST00000644883

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Splice site lost

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

Analysed issue

Analysis result

Variant

Chr12:111485866C>T (GRCh38)

Gene symbol

ATXN2

Gene constraints

LOEUF: 0.25, LOF (oe): 0.15, misssense (oe): 0.83, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000644883.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.2305-1G>A
g.113811G>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202116535
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	151	151

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.097	1
	6.413	1
(flanking)	6.502	1

?

Splice sites

alteration within used splice site, likely to disturb normal splicing

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor lost	113811	wt: 0.00 / mu: 0.00	-	wt: gtttttgtag\|CCAAAGCCTT mu: gtttttgtaa\|CCAAAGCCTT

Distance from splice site

1

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

12

Strand

-1

Original gDNA sequence snippet

AATTTATTGTTGTTTTTGTAGCCAAAGCCTTCTACTACCCC

Altered gDNA sequence snippet

AATTTATTGTTGTTTTTGTAACCAAAGCCTTCTACTACCCC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSLKPQQQQQ QQQQQQQQQQ QQQQQQQQPP PAAANVRKPG GSGLLASPAA APSPSSSSVS
SSSATAPSSV VAATSGGGRP GLGRGRNSNK GLPQSTISFD GIYANMRMVH ILTSVVGSKC
EVQVKNGGIY EGVFKTYSPK CDLVLDAAHE KSTESSSGPK REEIMESILF KCSDFVVVQF
KDMDSSYAKR DAFTDSAISA KVNGEHKEKD LEPWDAGELT ANEELEALEN DVSNGWDPND
MFRYNEENYG VVSTYDSSLS SYTVPLERDN SEEFLKREAR ANQLAEEIES SAQYKARVAL
ENDDRSEEEK YTAVQRNSSE REGHSINTRE NKYIPPGQRN REVISWGSGR QNSPRMGQPG
SGSMPSRSTS HTSDFNPNSG SDQRVVNGGV PWPSPCPSPS SRPPSRYQSG PNSLPPRAAT
PTRPPSRPPS RPSRPPSHPS AHGSPAPVST MPKRMSSEGP PRMSPKAQRH PRNHRVSAGR
GSISSGLEFV SHNPPSEAAT PPVARTSPSG GTWSSVVSGV PRLSPKTHRP RSPRQNSIGN
TPSGPVLASP QAGIIPTEAV AMPIPAASPT PASPASNRAV TPSSEAKDSR LQDQRQNSPA
GNKENIKPNE TSPSFSKAEN KGISPVVSEH RKQIDDLKKF KNDFRLQPSS TSESMDQLLN
KNREGEKSRD LIKDKIEPSA KDSFIENSSS NCTSGSSKPN SPSISPSILS NTEHKRGPEV
TSQGVQTSSP ACKQEKDDKE EKKDAAEQVR KSTLNPNAKE FNPRSFSQPK PSTTPTSPRP
QAQPSPSMVG HQQPTPVYTQ PVCFAPNMMY PVPVSPGVQP LYPIPMTPMP VNQAKTYRAV
PNMPQQRQDQ HHQSAMMHPA SAAGPPIAAT PPAYSTQYVA YSPQQFPNQP LVQHVPHYQS
QHPHVYSPVI QGNARMMAPP THAQPGLVSS SATQYGAHEQ THAMYGRKHF VCLFQCV*

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

89 / 89

Last intron/exon boundary

2791

Theoretical NMD boundary in CDS

2652

Length of CDS

2874

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

113811

Chromosomal position

111485866

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:

12:111485866C>T_9_ENST00000389153

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Splice site lost

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

Analysed issue

Analysis result

Variant

Chr12:111485866C>T (GRCh38)

Gene symbol

ATXN2

Gene constraints

LOEUF: 0.31, LOF (oe): 0.21, misssense (oe): 0.79, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000389153.10

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.2107-1G>A
g.113811G>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202116535
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	151	151

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.097	1
	6.413	1
(flanking)	6.502	1

?

Splice sites

alteration within used splice site, likely to disturb normal splicing

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor lost	113811	wt: 0.00 / mu: 0.00	-	wt: gtttttgtag\|CCAAAGCCTT mu: gtttttgtaa\|CCAAAGCCTT

Distance from splice site

1

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

12

Strand

-1

Original gDNA sequence snippet

AATTTATTGTTGTTTTTGTAGCCAAAGCCTTCTACTACCCC

Altered gDNA sequence snippet

AATTTATTGTTGTTTTTGTAACCAAAGCCTTCTACTACCCC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSLKPQQQQQ QQQQQQQQQQ QQQQQQQQPP PAAANVRKPG GSGLLASPAA APSPSSSSVS
SSSATAPSSV VAATSGGGRP GLGRGRNSNK GLPQSTISFD GIYANMRMVH ILTSVVGSKC
EVQVKNGGIY EGVFKTYSPK CDLVLDAAHE KSTESSSGPK REEIMESILF KCSDFVVVQF
KDMDSSYAKR DAFTDSAISA KVNGEHKEKD LEPWDAGELT ANEELEALEN DVSNGWDPND
MFRYNEENYG VVSTYDSSLS SYTVPLERDN SEEFLKREAR ANQLAEEIES SAQYKARVAL
ENDDRSEEEK YTAVQRNSSE REGHSINTRE NKYIPPGQRN REVISWGSGR QNSPRMGQPG
SGSMPSRSTS HTSDFNPNSG SDQRVVNGGV PWPSPCPSPS SRPPSRYQSG PNSLPPRAAT
PTRPPSRPPS RPSRPPSHPS AHGSPAPVST MPKRMSSEGP PRMSPKAQRH PRNHRVSAGR
GSISSGLEFV SHNPPSEAAT PPVARTSPSG GTWSSVVSGA KDSRLQDQRQ NSPAGNKENI
KPNETSPSFS KAENKGISPV VSEHRKQIDD LKKFKNDFRL QPSSTSESMD QLLNKNREGE
KSRDLIKDKI EPSAKDSFIE NSSSNCTSGS SKPNSPSISP SILSNTEHKR GPEVTSQGVQ
TSSPACKQEK DDKEEKKDAA EQVRKSTLNP NAKEFNPRSF SQPKPSTTPT SPRPQAQPSP
SMVGHQQPTP VYTQPVCFAP NMMYPVPVSP GVQPLYPIPM TPMPVNQAKT YRAVPNMPQQ
RQDQHHQSAM MHPASAAGPP IAATPPAYST QYVAYSPQQF PNQPLVQHVP HYQSQHPHVY
SPVIQGNARM MAPPTHAQPG LVSSSATQYG AHEQTHAMYA CPKLPYNKET SPSFYFAIST
GSLAQQYAHP NATLHPHTPH PQPSATPTGQ QQSQHGGSHP APSPVQHHQH QAAQALHLAS
PQQQSAIYHA GLAPTPPSMT PASNTQSPQN SFPAAQQTVF TIHPSHVQPA YTNPPHMAHV
PQAHVQSGMV PSHPTAHAPM MLMTTQPPGG PQAALAQSAL QPIPVSTTAH FPYMTHPSVQ
AHHQQQL*

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

89 / 89

Last intron/exon boundary

3323

Theoretical NMD boundary in CDS

3184

Length of CDS

3264

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

113811

Chromosomal position

111485866

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:

12:111485866C>T_10_ENST00000608853

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Splice site lost

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

Analysed issue

Analysis result

Variant

Chr12:111485866C>T (GRCh38)

Gene symbol

ATXN2

Gene constraints

LOEUF: 0.32, LOF (oe): 0.23, misssense (oe): 0.80, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000608853.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.2305-1G>A
g.113811G>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202116535
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	151	151

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.097	1
	6.413	1
(flanking)	6.502	1

?

Splice sites

alteration within used splice site, likely to disturb normal splicing

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor lost	113811	wt: 0.00 / mu: 0.00	-	wt: gtttttgtag\|CCAAAGCCTT mu: gtttttgtaa\|CCAAAGCCTT

Distance from splice site

1

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

12

Strand

-1

Original gDNA sequence snippet

AATTTATTGTTGTTTTTGTAGCCAAAGCCTTCTACTACCCC

Altered gDNA sequence snippet

AATTTATTGTTGTTTTTGTAACCAAAGCCTTCTACTACCCC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSLKPQQQQQ QQQQQQQQQQ QQQQQQQQPP PAAANVRKPG GSGLLASPAA APSPSSSSVS
SSSATAPSSV VAATSGGGRP GLGRGRNSNK GLPQSTISFD GIYANMRMVH ILTSVVGSKC
EVQVKNGGIY EGVFKTYSPK CDLVLDAAHE KSTESSSGPK REEIMESILF KCSDFVVVQF
KDMDSSYAKR DAFTDSAISA KVNGEHKEKD LEPWDAGELT ANEELEALEN DVSNGWDPND
MFRYNEENYG VVSTYDSSLS SYTVPLERDN SEEFLKREAR ANQLAEEIES SAQYKARVAL
ENDDRSEEEK YTAVQRNSSE REGHSINTRE NKYIPPGQRN REVISWGSGR QNSPRMGQPG
SGSMPSRSTS HTSDFNPNSG SDQRVVNGGV PWPSPCPSPS SRPPSRYQSG PNSLPPRAAT
PTRPPSRPPS RPSRPPSHPS AHGSPAPVST MPKRMSSEGP PRMSPKAQRH PRNHRVSAGR
GSISSGLEFV SHNPPSEAAT PPVARTSPSG GTWSSVVSGV PRLSPKTHRP RSPRQNSIGN
TPSGPVLASP QAGIIPTEAV AMPIPAASPT PASPASNRAV TPSSEAKDSR LQDQRQNSPA
GNKENIKPNE TSPSFSKAEN KGISPVVSEH RKQIDDLKKF KNDFRLQPSS TSESMDQLLN
KNREGEKSRD LIKDKIEPSA KDSFIENSSS NCTSGSSKPN SPSISPSILS NTEHKRGPEV
TSQGVQTSSP ACKQEKDDKE EKKDAAEQVR KSTLNPNAKE FNPRSFSQPK PSTTPTSPRP
QAQPSPSMVG HQQPTPVYTQ PVCFAPNMMY PVPVSPGVQP LYPIPMTPMP VNQAKTYRAV
PNMPQQRQDQ HHQSAMMHPA SAAGPPIAAT PPAYSTQYVA YSPQQFPNQP LVQHVPHYQS
QHPHVYSPVI QGNARMMAPP THAQPGLVSS SATQYGAHEQ THAMYACPKL PYNKETSPSF
YFAISTGSLA QQYAHPNATL HPHTPHPQPS ATPTGQQQSQ HGGSHPAPSP VQHHQHQAAQ
ALHLASPQQQ SAIYHAGLAP TPPSMTPASN TQSPQNSFPA AQQTVFTIHP SHVQPAYTNP
PHMAHVPQAH VQSGMVPSHP TAHAPMMLMT TQPPGGPQAA LAQSALQPIP VSTTAHFPYM
THPSVQAHHQ QQL*

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

317 / 317

Last intron/exon boundary

3749

Theoretical NMD boundary in CDS

3382

Length of CDS

3462

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

113811

Chromosomal position

111485866

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:

12:111485866C>T_11_ENST00000643669

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Splice site lost

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

Analysed issue

Analysis result

Variant

Chr12:111485866C>T (GRCh38)

Gene symbol

ATXN2

Gene constraints

LOEUF: 0.32, LOF (oe): 0.23, misssense (oe): 0.80, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000643669.2

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.2305-1G>A
g.113811G>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202116535
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	151	151

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.097	1
	6.413	1
(flanking)	6.502	1

?

Splice sites

alteration within used splice site, likely to disturb normal splicing

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor lost	113811	wt: 0.00 / mu: 0.00	-	wt: gtttttgtag\|CCAAAGCCTT mu: gtttttgtaa\|CCAAAGCCTT

Distance from splice site

1

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

12

Strand

-1

Original gDNA sequence snippet

AATTTATTGTTGTTTTTGTAGCCAAAGCCTTCTACTACCCC

Altered gDNA sequence snippet

AATTTATTGTTGTTTTTGTAACCAAAGCCTTCTACTACCCC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSLKPQQQQQ QQQQQQQQQQ QQQQQQQQPP PAAANVRKPG GSGLLASPAA APSPSSSSVS
SSSATAPSSV VAATSGGGRP GLGRGRNSNK GLPQSTISFD GIYANMRMVH ILTSVVGSKC
EVQVKNGGIY EGVFKTYSPK CDLVLDAAHE KSTESSSGPK REEIMESILF KCSDFVVVQF
KDMDSSYAKR DAFTDSAISA KVNGEHKEKD LEPWDAGELT ANEELEALEN DVSNGWDPND
MFRYNEENYG VVSTYDSSLS SYTVPLERDN SEEFLKREAR ANQLAEEIES SAQYKARVAL
ENDDRSEEEK YTAVQRNSSE REGHSINTRE NKYIPPGQRN REVISWGSGR QNSPRMGQPG
SGSMPSRSTS HTSDFNPNSG SDQRVVNGGV PWPSPCPSPS SRPPSRYQSG PNSLPPRAAT
PTRPPSRPPS RPSRPPSHPS AHGSPAPVST MPKRMSSEGP PRMSPKAQRH PRNHRVSAGR
GSISSGLEFV SHNPPSEAAT PPVARTSPSG GTWSSVVSGV PRLSPKTHRP RSPRQNSIGN
TPSGPVLASP QAGIIPTEAV AMPIPAASPT PASPASNRAV TPSSEAKDSR LQDQRQNSPA
GNKENIKPNE TSPSFSKAEN KGISPVVSEH RKQIDDLKKF KNDFRLQPSS TSESMDQLLN
KNREGEKSRD LIKDKIEPSA KDSFIENSSS NCTSGSSKPN SPSISPSILS NTEHKRGPEV
TSQGVQTSSP ACKQEKDDKE EKKDAAEQVR KSTLNPNAKE FNPRSFSQPK PSTTPTSPRP
QAQPSPSMVG HQQPTPVYTQ PVCFAPNMMY PVPVSPGVQP LYPIPMTPMP VNQAKTYRAG
KVKYLELELL RYVPNMPQQR QDQHHQSAMM HPASAAGPPI AATPPAYSTQ YVAYSPQQFP
NQPLVQHVPH YQSQHPHVYS PVIQGNARMM APPTHAQPGL VSSSATQYGA HEQTHAMYAC
PKLPYNKETS PSFYFAISTG SLAQQYAHPN ATLHPHTPHP QPSATPTGQQ QSQHGGSHPA
PSPVQHHQHQ AAQALHLASP QQQSAIYHAG LAPTPPSMTP ASNTQSPQNS FPAAQQTVFT
IHPSHVQPAY TNPPHMAHVP QAHVQSGMVP SHPTAHAPMM LMTTQPPGGP QAALAQSALQ
PIPVSTTAHF PYMTHPSVQA HHQQQL*

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

282 / 282

Last intron/exon boundary

3753

Theoretical NMD boundary in CDS

3421

Length of CDS

3501

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

113811

Chromosomal position

111485866

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:

12:111485866C>T_12_ENST00000673449

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Splice site lost

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

Analysed issue

Analysis result

Variant

Chr12:111485866C>T (GRCh38)

Gene symbol

ATXN2

Gene constraints

LOEUF: 0.32, LOF (oe): 0.23, misssense (oe): 0.80, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000673449.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.2305-1G>A
g.113811G>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202116535
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	151	151

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.097	1
	6.413	1
(flanking)	6.502	1

?

Splice sites

alteration within used splice site, likely to disturb normal splicing

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor lost	113811	wt: 0.00 / mu: 0.00	-	wt: gtttttgtag\|CCAAAGCCTT mu: gtttttgtaa\|CCAAAGCCTT

Distance from splice site

1

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

12

Strand

-1

Original gDNA sequence snippet

AATTTATTGTTGTTTTTGTAGCCAAAGCCTTCTACTACCCC

Altered gDNA sequence snippet

AATTTATTGTTGTTTTTGTAACCAAAGCCTTCTACTACCCC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSLKPQQQQQ QQQQQQQQQQ QQQQQQQQPP PAAANVRKPG GSGLLASPAA APSPSSSSVS
SSSATAPSSV VAATSGGGRP GLGRGRNSNK GLPQSTISFD GIYANMRMVH ILTSVVGSKC
EVQVKNGGIY EGVFKTYSPK CDLVLDAAHE KSTESSSGPK REEIMESILF KCSDFVVVQF
KDMDSSYAKR DAFTDSAISA KVNGEHKEKD LEPWDAGELT ANEELEALEN DVSNGWDPND
MFRYNEENYG VVSTYDSSLS SYTVPLERDN SEEFLKREAR ANQLAEEIES SAQYKARVAL
ENDDRSEEEK YTAVQRNSSE REGHSINTRE NKYIPPGQRN REVISWGSGR QNSPRMGQPG
SGSMPSRSTS HTSDFNPNSG SDQRVVNGGV PWPSPCPSPS SRPPSRYQSG PNSLPPRAAT
PTRPPSRPPS RPSRPPSHPS AHGSPAPVST MPKRMSSEGP PRMSPKAQRH PRNHRVSAGR
GSISSGLEFV SHNPPSEAAT PPVARTSPSG GTWSSVVSGV PRLSPKTHRP RSPRQNSIGN
TPSGPVLASP QAGIIPTEAV AMPIPAASPT PASPASNRAV TPSSEAKDSR LQDQRQNSPA
GNKENIKPNE TSPSFSKAEN KGISPVVSEH RKQIDDLKKF KNDFRLQPSS TSESMDQLLN
KNREGEKSRD LIKDKIEPSA KDSFIENSSS NCTSGSSKPN SPSISPSILS NTEHKRGPEV
TSQGVQTSSP ACKQEKDDKE EKKDAAEQVR KSTLNPNAKE FNPRSFSQPK PSTTPTSPRP
QAQPSPSMVG HQQPTPVYTQ PVCFAPNMMY PVPVSPGVQP LYPIPMTPMP VNQAKTYRAV
PNMPQQRQDQ HHQSAMMHPA SAAGPPIAAT PPAYSTQYVA YSPQQFPNQP LVQHVPHYQS
QHPHVYSPVI QGNARMMAPP THAQPGLVSS SATQYGAHEQ THAMYACPKL PYNKETSPSF
YFAISTGSLA QQYAHPNATL HPHTPHPQPS ATPTGQQQSQ HGGSHPAPSP VQHHQHQAAQ
ALHLASPQQQ SAIYHAGLAP TPPSMTPASN TQSPQNSFPA AQQTVFTIHP SHVQPAYTNP
PHMAHVPQCA SEALARCGLE MRLSWIYLSE GYLAHVQSGM VPSHPTAHAP MMLMTTQPPG
GPQAALAQSA LQPIPVSTTA HFPYMTHPSV QAHHQQQL*

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

89 / 89

Last intron/exon boundary

3596

Theoretical NMD boundary in CDS

3457

Length of CDS

3537

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

113811

Chromosomal position

111485866

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:

12:111485866C>T_13_ENST00000673283

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Splice site lost

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

Analysed issue

Analysis result

Variant

Chr12:111485866C>T (GRCh38)

Gene symbol

ATXN2

Gene constraints

LOEUF: 0.33, LOF (oe): 0.23, misssense (oe): 0.81, synonymous (oe): 0.99 ? (gnomAD)

Ensembl transcript ID

ENST00000673283.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.2095-1G>A
g.113811G>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202116535
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	151	151

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.097	1
	6.413	1
(flanking)	6.502	1

?

Splice sites

alteration within used splice site, likely to disturb normal splicing

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor lost	113811	wt: 0.00 / mu: 0.00	-	wt: gtttttgtag\|CCAAAGCCTT mu: gtttttgtaa\|CCAAAGCCTT

Distance from splice site

1

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

12

Strand

-1

Original gDNA sequence snippet

AATTTATTGTTGTTTTTGTAGCCAAAGCCTTCTACTACCCC

Altered gDNA sequence snippet

AATTTATTGTTGTTTTTGTAACCAAAGCCTTCTACTACCCC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSLKPQQQQQ QQQQQQQQQQ QQQQQQQQPP PAAANVRKPG GSGLLASPAA APSPSSSSVS
SSSATAPSSV VAATSGGGRP GLGRGRNSNK GLPQSTISFD GIYANMRMVH ILTSVVGSKC
EVQVKNGGIY EGVFKTYSPK CDLVLDAAHE KSTESSSGPK REEIMESILF KCSDFVVVQF
KDMDSSYAKR DAFTDSAISA KVNGEHKEKD LEPWDAGELT ANEELEALEN DVSNGWDPND
MFRYNEENYG VVSTYDSSLS SYTVPLERDN SEEFLKREAR ANQLAEEIES SAQYKARVAL
ENDDRSEEEK YTAVQRNSSE REGHSINTRE NKYIPPGQRN REVISWGSGR QNSPRMGQPG
SGSMPSRSTS HTSDFNPNSG SDQRVVNGGP PRMSPKAQRH PRNHRVSAGR GSISSGLEFV
SHNPPSEAAT PPVARTSPSG GTWSSVVSGV PRLSPKTHRP RSPRQNSIGN TPSGPVLASP
QAGIIPTEAV AMPIPAASPT PASPASNRAV TPSSEAKDSR LQDQRQNSPA GNKENIKPNE
TSPSFSKAEN KGISPVVSEH RKQIDDLKKF KNDFRLQPSS TSESMDQLLN KNREGEKSRD
LIKDKIEPSA KDSFIENSSS NCTSGSSKPN SPSISPSILS NTEHKRGPEV TSQGVQTSSP
ACKQEKDDKE EKKDAAEQVR KSTLNPNAKE FNPRSFSQPK PSTTPTSPRP QAQPSPSMVG
HQQPTPVYTQ PVCFAPNMMY PVPVSPGVQP LYPIPMTPMP VNQAKTYRAV PNMPQQRQDQ
HHQSAMMHPA SAAGPPIAAT PPAYSTQYVA YSPQQFPNQP LVQHVPHYQS QHPHVYSPVI
QGNARMMAPP THAQPGLVSS SATQYGAHEQ THAMYVSTGS LAQQYAHPNA TLHPHTPHPQ
PSATPTGQQQ SQHGGSHPAP SPVQHHQHQA AQALHLASPQ QQSAIYHAGL APTPPSMTPA
SNTQSPQNSF PAAQQTVFTI HPSHVQPAYT NPPHMAHVPQ AHVQSGMVPS HPTAHAPMML
MTTQPPGGPQ AALAQSALQP IPVSTTAHFP YMTHPSVQAH HQQQL*

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

46 / 46

Last intron/exon boundary

3214

Theoretical NMD boundary in CDS

3118

Length of CDS

3198

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

113811

Chromosomal position

111485866

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:

12:111485866C>T_14_ENST00000673557

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Splice site lost

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

Analysed issue

Analysis result

Variant

Chr12:111485866C>T (GRCh38)

Gene symbol

ATXN2

Gene constraints

LOEUF: 0.33, LOF (oe): 0.23, misssense (oe): 0.80, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000673557.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.2341-1G>A
g.113811G>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs202116535
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	151	151

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.097	1
	6.413	1
(flanking)	6.502	1

?

Splice sites

alteration within used splice site, likely to disturb normal splicing

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Acceptor lost	113811	wt: 0.00 / mu: 0.00	-	wt: gtttttgtag\|CCAAAGCCTT mu: gtttttgtaa\|CCAAAGCCTT

Distance from splice site

1

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

12

Strand

-1

Original gDNA sequence snippet

AATTTATTGTTGTTTTTGTAGCCAAAGCCTTCTACTACCCC

Altered gDNA sequence snippet

AATTTATTGTTGTTTTTGTAACCAAAGCCTTCTACTACCCC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSLKPQQQQQ QQQQQQQQQQ QQQQQQQQPP PAAANVRKPG GSGLLASPAA APSPSSSSVS
SSSATAPSSV VAATSGGGRP GLGRGRNSNK GLPQSTISFD GIYANMRMVH ILTSVVGSKC
EVQVKNGGIY EGVFKTYSPK CDLVLDAAHE KSTESSSGPK REEIMESILF KCSDFVVVQF
KDMDSSYAKR DAFTDSAISA KVNGEHKEKD LEPWDAGELT ANEELEALEN DVSNGWDPND
MFRYNEENYG VVSTYDSSLS SYTVPLERDN SEEFLKREAR ANQLAEEIES SAQYKARVAL
ENDDRSEEEK YTAVQRNSSE REGHSINTRE NKYIPPGQRN REVISWGSGR QNSPRMGQPG
SGSMPSRSTS HTSDFNPNSG SDQRVVNGVF ILSFISFVLS GVPWPSPCPS PSSRPPSRYQ
SGPNSLPPRA ATPTRPPSRP PSRPSRPPSH PSAHGSPAPV STMPKRMSSE GPPRMSPKAQ
RHPRNHRVSA GRGSISSGLE FVSHNPPSEA ATPPVARTSP SGGTWSSVVS GVPRLSPKTH
RPRSPRQNSI GNTPSGPVLA SPQAGIIPTE AVAMPIPAAS PTPASPASNR AVTPSSEAKD
SRLQDQRQNS PAGNKENIKP NETSPSFSKA ENKGISPVVS EHRKQIDDLK KFKNDFRLQP
SSTSESMDQL LNKNREGEKS RDLIKDKIEP SAKDSFIENS SSNCTSGSSK PNSPSISPSI
LSNTEHKRGP EVTSQGVQTS SPACKQEKDD KEEKKDAAEQ VRKSTLNPNA KEFNPRSFSQ
PKPSTTPTSP RPQAQPSPSM VGHQQPTPVY TQPVCFAPNM MYPVPVSPGV QPLYPIPMTP
MPVNQAKTYR AGKVPNMPQQ RQDQHHQSAM MHPASAAGPP IAATPPAYST QYVAYSPQQF
PNQPLVQHVP HYQSQHPHVY SPVIQGNARM MAPPTHAQPG LVSSSATQYG AHEQTHAMYA
CPKLPYNKET SPSFYFAIST GSLAQQYAHP NATLHPHTPH PQPSATPTGQ QQSQHGGSHP
APSPVQHHQH QAAQALHLAS PQQQSAIYHA GLAPTPPSMT PASNTQSPQN SFPAAQQTVF
TIHPSHVQPA YTNPPHMAHV PQAHVQSGMV PSHPTAHAPM MLMTTQPPGG PQAALAQSAL
QPIPVSTTAH FPYMTHPSVQ AHHQQQL*

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

93 / 93

Last intron/exon boundary

3567

Theoretical NMD boundary in CDS

3424

Length of CDS

3504

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

113811

Chromosomal position

111485866

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