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: ENST00000403018
Querying Taster for transcript #2: ENST00000406775
Querying Taster for transcript #3: ENST00000342771
Querying Taster for transcript #4: ENST00000644939
MT speed 0.49 s - this script 2.934094 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000406775	AUTS2	Benign	25\|75	simple_aae	No	Insertion	Insertion of 1 or 2 AA	Amino acid sequence changed Protein features (might be) affected
ENST00000342771(MANE Select)	AUTS2	Benign	26\|74	simple_aae	No	Insertion	Insertion of 1 or 2 AA	Amino acid sequence changed Protein features (might be) affected
ENST00000644939	AUTS2	Benign	27\|73	simple_aae	No	Insertion	Insertion of 1 or 2 AA	Amino acid sequence changed
ENST00000403018	AUTS2	Benign	46\|54	simple_aae	No	Insertion	Insertion of 1 or 2 AA	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

7:69599757C>CCGG_2_ENST00000406775

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 25|75 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:69599757_69599758insCGG (GRCh38)

Gene symbol

AUTS2

Gene constraints

LOEUF: 0.24, LOF (oe): 0.16, misssense (oe): 0.87, synonymous (oe): 1.07 ? (gnomAD)

Ensembl transcript ID

ENST00000406775.6

Genbank transcript ID

NM_001127231 (by similarity)

UniProt / AlphaMissense peptide

AUTS2_HUMAN | AlphaMissense: transcript, gene

Variant type

Insertion

Gene region

CDS

DNA changes

c.104_105insCGG
g.1462_1463insCGG

AA changes

insertion of 1 or 2 AA

AAE:	-36G	?
Score:	-

Frameshift

No

Length of protein

Insertion of 1 or 2 AA

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1366255788
gnomAD	homozygous (CGG/CGG)	heterozygous	allele carriers
	0	27	27

Protein conservation

Species	Match	AA	Alignment
Human		36	R	S	R	G	G	L	G	A	G	A	A	G	G	G	G	A	G	R	T	R	A	L	S	L
mutated	all identical	36	R	S	R	G	G	L	G	A	G	A	A	G	G	G	GG	A	G	R	T	R	A	L	S
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	87	REGION		lost
1	1259	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.674	0.803
(flanking)	0.147	0.498

?

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

7

Strand

1

Original gDNA sequence snippet

GGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGGGCTGGCC

Altered gDNA sequence snippet

GGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGCGGGGCTGGCC

Original cDNA sequence snippet

GGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGGGCTGGCC

Altered cDNA sequence snippet

GGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGCGGGGCTGGCC

Wildtype AA sequence

MDGPTRGHGL RKKRRSRSQR DRERRSRGGL GAGAAGGGGA GRTRALSLAS SSGSDKEDNG
KPPSSAPSRP RPPRRKRRES TSAEEDIIDG FAMTSFVTFE ALEKDVALKP QERVEKRQTP
LTKKKREALT NGLSFHSKKS RLSHPHHYSS DRENDRNLCQ HLGKRKKMPK ALRQLKPGQN
SCRDSDSESA SGESKGFHRS SSRERLSDSS APSSLGTGYF CDSDSDQEEK ASDASSEKLF
NTVIVNKDPE LGVGTLPEHD SQDAGPIVPK ISGLERSQEK SQDCCKEPIF EPVVLKDPCP
QVAQPIPQPQ TEPQLRAPSP DPDLVQRTEA PPQPPPLSTQ PPQGPPEAQL QPAPQPQVQR
PPRPQSPTQL LHQNLPPVQA HPSAQSLSQP LSAYNSSSLS LNSLSSSRSS TPAKTQPAPP
HISHHPSASP FPLSLPNHSP LHSFTPTLQP PAHSHHPNMF APPTALPPPP PLTSGSLQVA
GHPAGSTYSE QDILRQELNT RFLASQSADR GASLGPPPYL RTEFHQHQHQ HQHTHQHTHQ
HTFTPFPHAI PPTAIMPTPA PPMFDKYPTK VDPFYRHSLF HSYPPAVSGI PPMIPPTGPF
GSLQGAFQPK LTDPFRPMLR KPGKWCAMHV HIAWQIYHHQ QKVKKQMQSD PHKLDFGLKP
EFLSRPPGPS LFGAIHHPHD LARPSTLFSA AGAAHPTGTP FGPPPHHSNF LNPAAHLEPF
NRPSTFTGLA AVGGNAFGGL GNPSVTPNSM FGHKDGPSVQ NFSNPHEPWN RLHRTPPSFP
TPPPWLKPGE LERSASAAAH DRDRDVDKRD SSVSKDDKER ESVEKRHSSH PSPAPVLPVN
ALGHTRSSTE QIRAHLNTEA REKDKPKERE RDHSESRKDL AADEHKAKEG HLPEKDGHGH
EGRAAGEEAK QLARVPSPYV RTPVVESARP NSTSSREAEP RKGEPAYENP KKSSEVKVKE
ERKEDHDLPP EAPQTHRASE PPPPNSSSSV HPGPLASMPM TVGVTGIHPM NSISSLDRTR
MMTPFMGISP LPGGERFPYP SFHWDPIRDP LRDPYRELDI HRRDPLGRDF LLRNDPLHRL
STPRLYEADR SFRDREPHDY SHHHHHHHHP LSVDPRREHE RGGHLDERER LHMLREDYEH
TRLHSVHPAS LDGHLPHPSL ITPGLPSMHY PRISPTAGNQ NGLLNKTPPT AALSAPPPLI
STLGGRPVSP RRTTPLSAEI RERPPSHTLK DIEAR*

Mutated AA sequence

MDGPTRGHGL RKKRRSRSQR DRERRSRGGL GAGAAGGGGG AGRTRALSLA SSSGSDKEDN
GKPPSSAPSR PRPPRRKRRE STSAEEDIID GFAMTSFVTF EALEKDVALK PQERVEKRQT
PLTKKKREAL TNGLSFHSKK SRLSHPHHYS SDRENDRNLC QHLGKRKKMP KALRQLKPGQ
NSCRDSDSES ASGESKGFHR SSSRERLSDS SAPSSLGTGY FCDSDSDQEE KASDASSEKL
FNTVIVNKDP ELGVGTLPEH DSQDAGPIVP KISGLERSQE KSQDCCKEPI FEPVVLKDPC
PQVAQPIPQP QTEPQLRAPS PDPDLVQRTE APPQPPPLST QPPQGPPEAQ LQPAPQPQVQ
RPPRPQSPTQ LLHQNLPPVQ AHPSAQSLSQ PLSAYNSSSL SLNSLSSSRS STPAKTQPAP
PHISHHPSAS PFPLSLPNHS PLHSFTPTLQ PPAHSHHPNM FAPPTALPPP PPLTSGSLQV
AGHPAGSTYS EQDILRQELN TRFLASQSAD RGASLGPPPY LRTEFHQHQH QHQHTHQHTH
QHTFTPFPHA IPPTAIMPTP APPMFDKYPT KVDPFYRHSL FHSYPPAVSG IPPMIPPTGP
FGSLQGAFQP KLTDPFRPML RKPGKWCAMH VHIAWQIYHH QQKVKKQMQS DPHKLDFGLK
PEFLSRPPGP SLFGAIHHPH DLARPSTLFS AAGAAHPTGT PFGPPPHHSN FLNPAAHLEP
FNRPSTFTGL AAVGGNAFGG LGNPSVTPNS MFGHKDGPSV QNFSNPHEPW NRLHRTPPSF
PTPPPWLKPG ELERSASAAA HDRDRDVDKR DSSVSKDDKE RESVEKRHSS HPSPAPVLPV
NALGHTRSST EQIRAHLNTE AREKDKPKER ERDHSESRKD LAADEHKAKE GHLPEKDGHG
HEGRAAGEEA KQLARVPSPY VRTPVVESAR PNSTSSREAE PRKGEPAYEN PKKSSEVKVK
EERKEDHDLP PEAPQTHRAS EPPPPNSSSS VHPGPLASMP MTVGVTGIHP MNSISSLDRT
RMMTPFMGIS PLPGGERFPY PSFHWDPIRD PLRDPYRELD IHRRDPLGRD FLLRNDPLHR
LSTPRLYEAD RSFRDREPHD YSHHHHHHHH PLSVDPRREH ERGGHLDERE RLHMLREDYE
HTRLHSVHPA SLDGHLPHPS LITPGLPSMH YPRISPTAGN QNGLLNKTPP TAALSAPPPL
ISTLGGRPVS PRRTTPLSAE IRERPPSHTL KDIEAR*

Position of stopcodon in wt / mu CDS

3708 / 3711

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

1236 / 1237

Position of stopcodon in wt / mu cDNA

4443 / 4446

Position of start ATG in wt / mu cDNA

736 / 736

Last intron/exon boundary

3194

Theoretical NMD boundary in CDS

2408

Length of CDS

3708

Coding sequence (CDS) position

104 / 105

cDNA position

839 / 840

gDNA position

1462 / 1463

Chromosomal position

69599757 / 69599758

Speed

0.14 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:

7:69599757C>CCGG_3_ENST00000342771

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 26|74 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:69599757_69599758insCGG (GRCh38)

Gene symbol

AUTS2

Gene constraints

LOEUF: 0.23, LOF (oe): 0.15, misssense (oe): 0.87, synonymous (oe): 1.07 ? (gnomAD)

Ensembl transcript ID

ENST00000342771.10

Genbank transcript ID

NM_015570 (exact from MANE)

UniProt / AlphaMissense peptide

AUTS2_HUMAN | AlphaMissense: transcript, gene

Variant type

Insertion

Gene region

CDS

DNA changes

c.104_105insCGG
g.1462_1463insCGG

AA changes

insertion of 1 or 2 AA

AAE:	-36G	?
Score:	-

Frameshift

No

Length of protein

Insertion of 1 or 2 AA

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1366255788
gnomAD	homozygous (CGG/CGG)	heterozygous	allele carriers
	0	27	27

Protein conservation

Species	Match	AA	Alignment
Human		36	R	S	R	G	G	L	G	A	G	A	A	G	G	G	G	A	G	R	T	R	A	L	S	L
mutated	all identical	36	R	S	R	G	G	L	G	A	G	A	A	G	G	G	GG	A	G	R	T	R	A	L	S
Ptroglodytes	all identical	36	R	S	R	G	G	L	G	A	G	A	A	G	G	G	G	A	G	R	T	R	A	L	S
Mmulatta	all identical	36	R	S	R	G	G	L	G	A	G	A	A	G	G	G	G	A	G	R	T	R	A	L	S
Fcatus	all identical	36	R	S	R	G	G	L	G	A	G	A	A	G	G	G	G	A	G	R	T	R	A	P	S
Mmusculus	all identical	36	R	S	R	A	G	L	G	T	G	A	A	G	G	I	G	A	G	R	T	R	A	P	S
Ggallus	all identical	36	R	A	Q	G	G	R	R	G	A	A	A	G	G	AP	G	P	G	A	A	P	A	L	S
Trubripes	not conserved	39	R	S	N	G	I	R	N	K	-	-	-	-	-	-	-	-	-	H	V	K	A	S	M
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	36	R	S	K	S	G	L	G	V	A	R	T	G	-	-	-	-	-	-	-	-	-	-	S

Protein features

Start (aa)	End (aa)	Feature	Details
1	87	REGION		lost
1	1259	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.674	0.803
(flanking)	0.147	0.498

?

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

7

Strand

1

Original gDNA sequence snippet

GGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGGGCTGGCC

Altered gDNA sequence snippet

GGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGCGGGGCTGGCC

Original cDNA sequence snippet

GGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGGGCTGGCC

Altered cDNA sequence snippet

GGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGCGGGGCTGGCC

Wildtype AA sequence

MDGPTRGHGL RKKRRSRSQR DRERRSRGGL GAGAAGGGGA GRTRALSLAS SSGSDKEDNG
KPPSSAPSRP RPPRRKRRES TSAEEDIIDG FAMTSFVTFE ALEKDVALKP QERVEKRQTP
LTKKKREALT NGLSFHSKKS RLSHPHHYSS DRENDRNLCQ HLGKRKKMPK ALRQLKPGQN
SCRDSDSESA SGESKGFHRS SSRERLSDSS APSSLGTGYF CDSDSDQEEK ASDASSEKLF
NTVIVNKDPE LGVGTLPEHD SQDAGPIVPK ISGLERSQEK SQDCCKEPIF EPVVLKDPCP
QVAQPIPQPQ TEPQLRAPSP DPDLVQRTEA PPQPPPLSTQ PPQGPPEAQL QPAPQPQVQR
PPRPQSPTQL LHQNLPPVQA HPSAQSLSQP LSAYNSSSLS LNSLSSSRSS TPAKTQPAPP
HISHHPSASP FPLSLPNHSP LHSFTPTLQP PAHSHHPNMF APPTALPPPP PLTSGSLQVA
GHPAGSTYSE QDILRQELNT RFLASQSADR GASLGPPPYL RTEFHQHQHQ HQHTHQHTHQ
HTFTPFPHAI PPTAIMPTPA PPMFDKYPTK VDPFYRHSLF HSYPPAVSGI PPMIPPTGPF
GSLQGAFQPK TSNPIDVAAR PGTVPHTLLQ KDPRLTDPFR PMLRKPGKWC AMHVHIAWQI
YHHQQKVKKQ MQSDPHKLDF GLKPEFLSRP PGPSLFGAIH HPHDLARPST LFSAAGAAHP
TGTPFGPPPH HSNFLNPAAH LEPFNRPSTF TGLAAVGGNA FGGLGNPSVT PNSMFGHKDG
PSVQNFSNPH EPWNRLHRTP PSFPTPPPWL KPGELERSAS AAAHDRDRDV DKRDSSVSKD
DKERESVEKR HSSHPSPAPV LPVNALGHTR SSTEQIRAHL NTEAREKDKP KERERDHSES
RKDLAADEHK AKEGHLPEKD GHGHEGRAAG EEAKQLARVP SPYVRTPVVE SARPNSTSSR
EAEPRKGEPA YENPKKSSEV KVKEERKEDH DLPPEAPQTH RASEPPPPNS SSSVHPGPLA
SMPMTVGVTG IHPMNSISSL DRTRMMTPFM GISPLPGGER FPYPSFHWDP IRDPLRDPYR
ELDIHRRDPL GRDFLLRNDP LHRLSTPRLY EADRSFRDRE PHDYSHHHHH HHHPLSVDPR
REHERGGHLD ERERLHMLRE DYEHTRLHSV HPASLDGHLP HPSLITPGLP SMHYPRISPT
AGNQNGLLNK TPPTAALSAP PPLISTLGGR PVSPRRTTPL SAEIRERPPS HTLKDIEAR*

Mutated AA sequence

MDGPTRGHGL RKKRRSRSQR DRERRSRGGL GAGAAGGGGG AGRTRALSLA SSSGSDKEDN
GKPPSSAPSR PRPPRRKRRE STSAEEDIID GFAMTSFVTF EALEKDVALK PQERVEKRQT
PLTKKKREAL TNGLSFHSKK SRLSHPHHYS SDRENDRNLC QHLGKRKKMP KALRQLKPGQ
NSCRDSDSES ASGESKGFHR SSSRERLSDS SAPSSLGTGY FCDSDSDQEE KASDASSEKL
FNTVIVNKDP ELGVGTLPEH DSQDAGPIVP KISGLERSQE KSQDCCKEPI FEPVVLKDPC
PQVAQPIPQP QTEPQLRAPS PDPDLVQRTE APPQPPPLST QPPQGPPEAQ LQPAPQPQVQ
RPPRPQSPTQ LLHQNLPPVQ AHPSAQSLSQ PLSAYNSSSL SLNSLSSSRS STPAKTQPAP
PHISHHPSAS PFPLSLPNHS PLHSFTPTLQ PPAHSHHPNM FAPPTALPPP PPLTSGSLQV
AGHPAGSTYS EQDILRQELN TRFLASQSAD RGASLGPPPY LRTEFHQHQH QHQHTHQHTH
QHTFTPFPHA IPPTAIMPTP APPMFDKYPT KVDPFYRHSL FHSYPPAVSG IPPMIPPTGP
FGSLQGAFQP KTSNPIDVAA RPGTVPHTLL QKDPRLTDPF RPMLRKPGKW CAMHVHIAWQ
IYHHQQKVKK QMQSDPHKLD FGLKPEFLSR PPGPSLFGAI HHPHDLARPS TLFSAAGAAH
PTGTPFGPPP HHSNFLNPAA HLEPFNRPST FTGLAAVGGN AFGGLGNPSV TPNSMFGHKD
GPSVQNFSNP HEPWNRLHRT PPSFPTPPPW LKPGELERSA SAAAHDRDRD VDKRDSSVSK
DDKERESVEK RHSSHPSPAP VLPVNALGHT RSSTEQIRAH LNTEAREKDK PKERERDHSE
SRKDLAADEH KAKEGHLPEK DGHGHEGRAA GEEAKQLARV PSPYVRTPVV ESARPNSTSS
REAEPRKGEP AYENPKKSSE VKVKEERKED HDLPPEAPQT HRASEPPPPN SSSSVHPGPL
ASMPMTVGVT GIHPMNSISS LDRTRMMTPF MGISPLPGGE RFPYPSFHWD PIRDPLRDPY
RELDIHRRDP LGRDFLLRND PLHRLSTPRL YEADRSFRDR EPHDYSHHHH HHHHPLSVDP
RREHERGGHL DERERLHMLR EDYEHTRLHS VHPASLDGHL PHPSLITPGL PSMHYPRISP
TAGNQNGLLN KTPPTAALSA PPPLISTLGG RPVSPRRTTP LSAEIRERPP SHTLKDIEAR
*

Position of stopcodon in wt / mu CDS

3780 / 3783

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

1260 / 1261

Position of stopcodon in wt / mu cDNA

4959 / 4962

Position of start ATG in wt / mu cDNA

1180 / 1180

Last intron/exon boundary

3710

Theoretical NMD boundary in CDS

2480

Length of CDS

3780

Coding sequence (CDS) position

104 / 105

cDNA position

1283 / 1284

gDNA position

1462 / 1463

Chromosomal position

69599757 / 69599758

Speed

0.11 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:

7:69599757C>CCGG_4_ENST00000644939

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 27|73 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:69599757_69599758insCGG (GRCh38)

Gene symbol

AUTS2

Gene constraints

LOEUF: 0.23, LOF (oe): 0.15, misssense (oe): 0.87, synonymous (oe): 1.07 ? (gnomAD)

Ensembl transcript ID

ENST00000644939.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

CDS

DNA changes

c.104_105insCGG
g.1462_1463insCGG

AA changes

insertion of 1 or 2 AA

AAE:	-36G	?
Score:	-

Frameshift

No

Length of protein

Insertion of 1 or 2 AA

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1366255788
gnomAD	homozygous (CGG/CGG)	heterozygous	allele carriers
	0	27	27

Protein conservation

Species	Match	AA	Alignment
Human		36	R	S	R	G	G	L	G	A	G	A	A	G	G	G	G	A	G	R	T	R	A	L	S	L
mutated	all identical	36	R	S	R	G	G	L	G	A	G	A	A	G	G	G	GG	A	G	R	T	R	A	L	S
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)	2.674	0.803
(flanking)	0.147	0.498

?

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

7

Strand

1

Original gDNA sequence snippet

GGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGGGCTGGCC

Altered gDNA sequence snippet

GGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGCGGGGCTGGCC

Original cDNA sequence snippet

GGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGGGCTGGCC

Altered cDNA sequence snippet

GGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGCGGGGCTGGCC

Wildtype AA sequence

MDGPTRGHGL RKKRRSRSQR DRERRSRGGL GAGAAGGGGA GRTRALSLAS SSGSDKEDNG
KPPSSAPSRP RPPRRKRRES TSAEEDIIDG FAMTSFVTFE ALEKDVALKP QERVEKRQTP
LTKKKREALT NGLSFHSKKS RLSHPHHYSS DRENDRNLCQ HLGKRKKMPK ALRQLKPGQN
SCRDSDSESA SGESKGFHRS SSRERLSDSS APSSLGTGYF CDSDSDQEEK ASDASSEKLF
NTVIVNKDPE LGVGTLPEHD SQDAGPIVPK ISGLERSQEK SQDCCKEPIF EPVVLKDPCP
QVAQPIPQPQ TEPQLRAPSP DPDLVQRTEA PPQPPPLSTQ PPQGPPEAQL QPAPQPQVQR
PPRPQSPTQL LHQNLPPVQA HPSAQSLSQP LSAYNSSSLS LNSLSSRSST PAKTQPAPPH
ISHHPSASPF PLSLPNHSPL HSFTPTLQPP AHSHHPNMFA PPTALPPPPP LTSGSLQVAG
HPAGSTYSEQ DILRQELNTR FLASQSADRG ASLGPPPYLR TEFHQHQHQH QHTHQHTHQH
TFTPFPHAIP PTAIMPTPAP PMFDKYPTKV DPFYRHSLFH SYPPAVSGIP PMIPPTGPFG
SLQGAFQPKT SNPIDVAARP GTVPHTLLQK DPRLTDPFRP MLRKPGKWCA MHVHIAWQIY
HHQQKVKKQM QSDPHKLDFG LKPEFLSRPP GPSLFGAIHH PHDLARPSTL FSAAGAAHPT
GTPFGPPPHH SNFLNPAAHL EPFNRPSTFT GLAAVGGNAF GGLGNPSVTP NSMFGHKDGP
SVQNFSNPHE PWNRLHRTPP SFPTPPPWLK PGELERSASA AAHDRDRDVD KRDSSVSKDD
KERESVEKRH SSHPSPAPVL PVNALGHTRS STEQIRAHLN TEAREKDKPK ERERDHSESR
KDLAADEHKA KEGHLPEKDG HGHEGRAAGE EAKQLARVPS PYVRTPVVES ARPNSTSSRE
AEPRKGEPAY ENPKKSSEVK VKEERKEDHD LPPEAPQTHR ASEPPPPNSS SSVHPGPLAS
MPMTVGVTGI HPMNSISSLD RTRMMTPFMG ISPLPGGERF PYPSFHWDPI RDPLRDPYRE
LDIHRRDPLG RDFLLRNDPL HRLSTPRLYE ADRSFRDREP HDYSHHHHHH HHPLSVDPRR
EHERGGHLDE RERLHMLRED YEHTRLHSVH PASLDGHLPH PSLITPGLPS MHYPRISPTA
GNQNGLLNKT PPTAALSAPP PLISTLGGRP VSPRRTTPLS AEIRERPPSH TLKDIEAR*

Mutated AA sequence

MDGPTRGHGL RKKRRSRSQR DRERRSRGGL GAGAAGGGGG AGRTRALSLA SSSGSDKEDN
GKPPSSAPSR PRPPRRKRRE STSAEEDIID GFAMTSFVTF EALEKDVALK PQERVEKRQT
PLTKKKREAL TNGLSFHSKK SRLSHPHHYS SDRENDRNLC QHLGKRKKMP KALRQLKPGQ
NSCRDSDSES ASGESKGFHR SSSRERLSDS SAPSSLGTGY FCDSDSDQEE KASDASSEKL
FNTVIVNKDP ELGVGTLPEH DSQDAGPIVP KISGLERSQE KSQDCCKEPI FEPVVLKDPC
PQVAQPIPQP QTEPQLRAPS PDPDLVQRTE APPQPPPLST QPPQGPPEAQ LQPAPQPQVQ
RPPRPQSPTQ LLHQNLPPVQ AHPSAQSLSQ PLSAYNSSSL SLNSLSSRSS TPAKTQPAPP
HISHHPSASP FPLSLPNHSP LHSFTPTLQP PAHSHHPNMF APPTALPPPP PLTSGSLQVA
GHPAGSTYSE QDILRQELNT RFLASQSADR GASLGPPPYL RTEFHQHQHQ HQHTHQHTHQ
HTFTPFPHAI PPTAIMPTPA PPMFDKYPTK VDPFYRHSLF HSYPPAVSGI PPMIPPTGPF
GSLQGAFQPK TSNPIDVAAR PGTVPHTLLQ KDPRLTDPFR PMLRKPGKWC AMHVHIAWQI
YHHQQKVKKQ MQSDPHKLDF GLKPEFLSRP PGPSLFGAIH HPHDLARPST LFSAAGAAHP
TGTPFGPPPH HSNFLNPAAH LEPFNRPSTF TGLAAVGGNA FGGLGNPSVT PNSMFGHKDG
PSVQNFSNPH EPWNRLHRTP PSFPTPPPWL KPGELERSAS AAAHDRDRDV DKRDSSVSKD
DKERESVEKR HSSHPSPAPV LPVNALGHTR SSTEQIRAHL NTEAREKDKP KERERDHSES
RKDLAADEHK AKEGHLPEKD GHGHEGRAAG EEAKQLARVP SPYVRTPVVE SARPNSTSSR
EAEPRKGEPA YENPKKSSEV KVKEERKEDH DLPPEAPQTH RASEPPPPNS SSSVHPGPLA
SMPMTVGVTG IHPMNSISSL DRTRMMTPFM GISPLPGGER FPYPSFHWDP IRDPLRDPYR
ELDIHRRDPL GRDFLLRNDP LHRLSTPRLY EADRSFRDRE PHDYSHHHHH HHHPLSVDPR
REHERGGHLD ERERLHMLRE DYEHTRLHSV HPASLDGHLP HPSLITPGLP SMHYPRISPT
AGNQNGLLNK TPPTAALSAP PPLISTLGGR PVSPRRTTPL SAEIRERPPS HTLKDIEAR*

Position of stopcodon in wt / mu CDS

3777 / 3780

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

1259 / 1260

Position of stopcodon in wt / mu cDNA

5135 / 5138

Position of start ATG in wt / mu cDNA

1359 / 1359

Last intron/exon boundary

3886

Theoretical NMD boundary in CDS

2477

Length of CDS

3777

Coding sequence (CDS) position

104 / 105

cDNA position

1462 / 1463

gDNA position

1462 / 1463

Chromosomal position

69599757 / 69599758

Speed

0.13 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:

7:69599757C>CCGG_1_ENST00000403018

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 46|54 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:69599757_69599758insCGG (GRCh38)

Gene symbol

AUTS2

Gene constraints

LOEUF: 0.53, LOF (oe): 0.25, misssense (oe): 0.90, synonymous (oe): 1.03 ? (gnomAD)

Ensembl transcript ID

ENST00000403018.3

Genbank transcript ID

NM_001127232 (by similarity)

UniProt / AlphaMissense peptide

AUTS2_HUMAN | AlphaMissense: transcript, gene

Variant type

Insertion

Gene region

CDS

DNA changes

c.104_105insCGG
g.1462_1463insCGG

AA changes

insertion of 1 or 2 AA

AAE:	-36G	?
Score:	-

Frameshift

No

Length of protein

Insertion of 1 or 2 AA

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1366255788
gnomAD	homozygous (CGG/CGG)	heterozygous	allele carriers
	0	27	27

Protein conservation

Species	Match	AA	Alignment
Human		36	R	S	R	G	G	L	G	A	G	A	A	G	G	G	G	A	G	R	T	R	A	L	S	L
mutated	all identical	36	R	S	R	G	G	L	G	A	G	A	A	G	G	G	GG	A	G	R	T	R	A	L	S
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	87	REGION		lost
1	1259	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.674	0.803
(flanking)	0.147	0.498

?

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

7

Strand

1

Original gDNA sequence snippet

GGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGGGCTGGCC

Altered gDNA sequence snippet

GGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGCGGGGCTGGCC

Original cDNA sequence snippet

GGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGGGCTGGCC

Altered cDNA sequence snippet

GGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGCGGGGCTGGCC

Wildtype AA sequence

MDGPTRGHGL RKKRRSRSQR DRERRSRGGL GAGAAGGGGA GRTRALSLAS SSGSDKEDNG
KPPSSAPSRP RPPRRKRRES TSAEEDIIDG FAMTSFVTFE ALEKDVALKP QERVEKRQTP
LTKKKREALT NGLSFHSKKS RLSHPHHYSS DRENDRNLCQ HLGKRKKMPK ALRQLKPGQN
SCRDSDSESA SGESKGFHRS SSRERLSDSS APSSLGTGYF RSGKMCLGEE ACLKSGNDMK
RDVSNTSSWA SNRESFFSLV KLLKGF*

Mutated AA sequence

MDGPTRGHGL RKKRRSRSQR DRERRSRGGL GAGAAGGGGG AGRTRALSLA SSSGSDKEDN
GKPPSSAPSR PRPPRRKRRE STSAEEDIID GFAMTSFVTF EALEKDVALK PQERVEKRQT
PLTKKKREAL TNGLSFHSKK SRLSHPHHYS SDRENDRNLC QHLGKRKKMP KALRQLKPGQ
NSCRDSDSES ASGESKGFHR SSSRERLSDS SAPSSLGTGY FRSGKMCLGE EACLKSGNDM
KRDVSNTSSW ASNRESFFSL VKLLKGF*

Position of stopcodon in wt / mu CDS

801 / 804

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

267 / 268

Position of stopcodon in wt / mu cDNA

844 / 847

Position of start ATG in wt / mu cDNA

44 / 44

Last intron/exon boundary

703

Theoretical NMD boundary in CDS

609

Length of CDS

801

Coding sequence (CDS) position

104 / 105

cDNA position

147 / 148

gDNA position

1462 / 1463

Chromosomal position

69599757 / 69599758

Speed

0.11 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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