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: ENST00000504405
Querying Taster for transcript #2: ENST00000507173
Querying Taster for transcript #3: ENST00000511413
Querying Taster for transcript #4: ENST00000512653
Querying Taster for transcript #5: ENST00000367623
Querying Taster for transcript #6: ENST00000502732
Querying Taster for transcript #7: ENST00000344730
MT speed 0.2 s - this script 2.625891 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length
ENST00000504405	ABL2	Benign	0\|200	without_aae	No	Single base exchange	N/A
ENST00000507173	ABL2	Benign	0\|200	without_aae	No	Single base exchange	N/A
ENST00000511413	ABL2	Benign	0\|200	without_aae	No	Single base exchange	N/A
ENST00000512653	ABL2	Benign	0\|200	without_aae	No	Single base exchange	N/A
ENST00000367623	ABL2	Benign	0\|200	without_aae	No	Single base exchange	N/A
ENST00000502732(MANE Select)	ABL2	Benign	0\|200	without_aae	No	Single base exchange	N/A
ENST00000344730	ABL2	Benign	0\|200	without_aae	No	Single base exchange	N/A

MutationT@ster 2025

Variant:

1:179110715T>A_1_ENST00000504405

Back to summary table

Prediction:

BenignPermalink

Summary:

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

Analysed issue

Analysis result

Variant

Chr1:179110715T>A (GRCh38)

Gene symbol

ABL2

Gene constraints

LOEUF: 0.57, LOF (oe): 0.45, misssense (oe): 0.77, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000504405.5

Genbank transcript ID

NM_001168239 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1544-260A>T
g.118970A>T

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 'A' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.304	0
	-0.839	0
(flanking)	-0.014	0

?

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

1

Strand

-1

Original gDNA sequence snippet

ACATCCATCAAGAGGAGAACAGGTGGATTGTGGTATATTCA

Altered gDNA sequence snippet

ACATCCATCAAGAGGAGAACTGGTGGATTGTGGTATATTCA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MVLGTVLLPP NSYGRDQDTS LCCLCTEASE SALPDLTEAL HRPYGCDVEP QALNEAIRWS
SKENLLGATE SDPNLFVALY DFVASGDNTL SITKGEKLRV LGYNQNGEWS EVRSKNGQGW
VPSNYITPVN SLEKHSWYHG PVSRSAAEYL LSSLINGSFL VRESESSPGQ LSISLRYEGR
VYHYRINTTA DGKVYVTAES RFSTLAELVH HHSTVADGLV TTLHYPAPKC NKPTVYGVSP
IHDKWEMERT DITMKHKLGG GQYGEVYVGV WKKYSLTVAV KTLKEDTMEV EEFLKEAAVM
KEIKHPNLVQ LLGVCTLEPP FYIVTEYMPY GNLLDYLREC NREEVTAVVL LYMATQISSA
MEYLEKKNFI HRDLAARNCL VGENHVVKVA DFGLSRLMTG DTYTAHAGAK FPIKWTAPES
LAYNTFSIKS DVWAFGVLLW EIATYGMSPY PGIDLSQVYD LLEKGYRMEQ PEGCPPKVYE
LMRACWKWSP ADRPSFAETH QAFETMFHDS SISEEVAEEL GRAASSSSVV PYLPRLPILP
SKTRTLKKQV ENKENIEGAQ DATENSASSL APGFIRGAQA SSGSPALPRK QRDKSPSSLL
EDAKETCFTR DRKGGFFSSF MKKRNAPTPP KRSSSFREME NQPHKKYELT GLPEQDRMAM
TLPRNCQRSK LQLERTVSTS SQPEENVDRA NDMLPKKSEE SAAPSRERPK AKLLPRGATA
LPLRTPSGDL AITEKDPPGV GVAGVAAAPK GKEKNGGARL GMAGVPEDGE QPGWPSPAKA
APVLPTTHNH KVPVLISPTL KHTPADVQLI GTDSQGNKFK LLSEHQVTSS GDKDRPRRVK
PKCAPPPPPV MRLLQHPSIC SDPTEEPTAL TAGQSTSETQ EGGKKAALGA VPISGKAGRP
VMPPPQVPLP TSSISPAKMA NGTAGTKVAL RKTKQAAEKI SADKISKEAL LECADLLSSA
LTEPVPNSQL VDTGHQLLDY CSGYVDCIPQ TRNKFAFREA VSKLELSLQE LQVSSAAAGV
PGTNPVLNNL LSCVQEISDV VQR*

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

1 / 1

Last intron/exon boundary

1951

Theoretical NMD boundary in CDS

1900

Length of CDS

3132

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

118970

Chromosomal position

179110715

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:

1:179110715T>A_2_ENST00000507173

Back to summary table

Prediction:

BenignPermalink

Summary:

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

Analysed issue

Analysis result

Variant

Chr1:179110715T>A (GRCh38)

Gene symbol

ABL2

Gene constraints

LOEUF: 0.58, LOF (oe): 0.46, misssense (oe): 0.81, synonymous (oe): 1.00 ? (gnomAD)

Ensembl transcript ID

ENST00000507173.5

Genbank transcript ID

NM_001168238 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1589-260A>T
g.118970A>T

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 'A' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.304	0
	-0.839	0
(flanking)	-0.014	0

?

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

1

Strand

-1

Original gDNA sequence snippet

ACATCCATCAAGAGGAGAACAGGTGGATTGTGGTATATTCA

Altered gDNA sequence snippet

ACATCCATCAAGAGGAGAACTGGTGGATTGTGGTATATTCA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGQQVGRVGE APGLQQPQPR GIRGSSAARP SGRRRDPAGR TTETGFNIFT QHEALHRPYG
CDVEPQALNE AIRWSSKENL LGATESDPNL FVALYDFVAS GDNTLSITKG EKLRVLGYNQ
NGEWSEVRSK NGQGWVPSNY ITPVNSLEKH SWYHGPVSRS AAEYLLSSLI NGSFLVRESE
SSPGQLSISL RYEGRVYHYR INTTADGKVY VTAESRFSTL AELVHHHSTV ADGLVTTLHY
PAPKCNKPTV YGVSPIHDKW EMERTDITMK HKLGGGQYGE VYVGVWKKYS LTVAVKTLKE
DTMEVEEFLK EAAVMKEIKH PNLVQLLGVC TLEPPFYIVT EYMPYGNLLD YLRECNREEV
TAVVLLYMAT QISSAMEYLE KKNFIHRDLA ARNCLVGENH VVKVADFGLS RLMTGDTYTA
HAGAKFPIKW TAPESLAYNT FSIKSDVWAF GVLLWEIATY GMSPYPGIDL SQVYDLLEKG
YRMEQPEGCP PKVYELMRAC WKWSPADRPS FAETHQAFET MFHDSSISEE VAEELGRAAS
SSSVVPYLPR LPILPSKTRT LKKQVENKEN IEGAQDATEN SASSLAPGFI RGAQASSGSP
ALPRKQRDKS PSSLLEDAKE TCFTRDRKGG FFSSFMKKRN APTPPKRSSS FREMENQPHK
KYELTGLPEQ DRMAMTLPRN CQRSKLQLER TVSTSSQPEE NVDRANDMLP KKSEESAAPS
RERPKAKLLP RGATALPLRT PSGDLAITEK DPPGVGVAGV AAAPKGKEKN GGARLGMAGV
PEDGEQPGWP SPAKAAPVLP TTHNHKVPVL ISPTLKHTPA DVQLIGTDSQ GNKFKLLSEH
QVTSSGDKDR PRRVKPKCAP PPPPVMRLLQ HPSICSDPTE EPTALTAGQS TSETQEGGKK
AALGAVPISG KAGRPVMPPP QVPLPTSSIS PAKMANGTAG TKVALRKTKQ AAEKISADKI
SKEALLECAD LLSSALTEPV PNSQLVDTGH QLLDYCSGYV DCIPQTRNKF AFREAVSKLE
LSLQELQVSS AAAGVPGTNP VLNNLLSCVQ EISDVVQR*

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

1 / 1

Last intron/exon boundary

1996

Theoretical NMD boundary in CDS

1945

Length of CDS

3177

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

118970

Chromosomal position

179110715

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:

1:179110715T>A_3_ENST00000511413

Back to summary table

Prediction:

BenignPermalink

Summary:

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

Analysed issue

Analysis result

Variant

Chr1:179110715T>A (GRCh38)

Gene symbol

ABL2

Gene constraints

LOEUF: 0.56, LOF (oe): 0.44, misssense (oe): 0.81, synonymous (oe): 0.99 ? (gnomAD)

Ensembl transcript ID

ENST00000511413.5

Genbank transcript ID

NM_001168237 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1652-260A>T
g.118970A>T

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 'A' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.304	0
	-0.839	0
(flanking)	-0.014	0

?

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

1

Strand

-1

Original gDNA sequence snippet

ACATCCATCAAGAGGAGAACAGGTGGATTGTGGTATATTCA

Altered gDNA sequence snippet

ACATCCATCAAGAGGAGAACTGGTGGATTGTGGTATATTCA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGQQVGRVGE APGLQQPQPR GIRGSSAARP SGRRRDPAGR TTETGFNIFT QHDHFASCVE
DGFEGDKTGG SSPEALHRPY GCDVEPQALN EAIRWSSKEN LLGATESDPN LFVALYDFVA
SGDNTLSITK GEKLRVLGYN QNGEWSEVRS KNGQGWVPSN YITPVNSLEK HSWYHGPVSR
SAAEYLLSSL INGSFLVRES ESSPGQLSIS LRYEGRVYHY RINTTADGKV YVTAESRFST
LAELVHHHST VADGLVTTLH YPAPKCNKPT VYGVSPIHDK WEMERTDITM KHKLGGGQYG
EVYVGVWKKY SLTVAVKTLK EDTMEVEEFL KEAAVMKEIK HPNLVQLLGV CTLEPPFYIV
TEYMPYGNLL DYLRECNREE VTAVVLLYMA TQISSAMEYL EKKNFIHRDL AARNCLVGEN
HVVKVADFGL SRLMTGDTYT AHAGAKFPIK WTAPESLAYN TFSIKSDVWA FGVLLWEIAT
YGMSPYPGID LSQVYDLLEK GYRMEQPEGC PPKVYELMRA CWKWSPADRP SFAETHQAFE
TMFHDSSISE EVAEELGRAA SSSSVVPYLP RLPILPSKTR TLKKQVENKE NIEGAQDATE
NSASSLAPGF IRGAQASSGS PALPRKQRDK SPSSLLEDAK ETCFTRDRKG GFFSSFMKKR
NAPTPPKRSS SFREMENQPH KKYELTGLPE QDRMAMTLPR NCQRSKLQLE RTVSTSSQPE
ENVDRANDML PKKSEESAAP SRERPKAKLL PRGATALPLR TPSGDLAITE KDPPGVGVAG
VAAAPKGKEK NGGARLGMAG VPEDGEQPGW PSPAKAAPVL PTTHNHKVPV LISPTLKHTP
ADVQLIGTDS QGNKFKLLSE HQVTSSGDKD RPRRVKPKCA PPPPPVMRLL QHPSICSDPT
EEPTALTAGQ STSETQEGGK KAALGAVPIS GKAGRPVMPP PQVPLPTSSI SPAKMANGTA
GTKVALRKTK QAAEKISADK ISKEALLECA DLLSSALTEP VPNSQLVDTG HQLLDYCSGY
VDCIPQTRNK FAFREAVSKL ELSLQELQVS SAAAGVPGTN PVLNNLLSCV QEISDVVQR*

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

1 / 1

Last intron/exon boundary

2059

Theoretical NMD boundary in CDS

2008

Length of CDS

3240

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

118970

Chromosomal position

179110715

Speed

0.03 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:

1:179110715T>A_4_ENST00000512653

Back to summary table

Prediction:

BenignPermalink

Summary:

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

Analysed issue

Analysis result

Variant

Chr1:179110715T>A (GRCh38)

Gene symbol

ABL2

Gene constraints

LOEUF: 0.57, LOF (oe): 0.45, misssense (oe): 0.79, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000512653.5

Genbank transcript ID

NM_005158 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1607-260A>T
g.118970A>T

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 'A' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.304	0
	-0.839	0
(flanking)	-0.014	0

?

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

1

Strand

-1

Original gDNA sequence snippet

ACATCCATCAAGAGGAGAACAGGTGGATTGTGGTATATTCA

Altered gDNA sequence snippet

ACATCCATCAAGAGGAGAACTGGTGGATTGTGGTATATTCA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MVLGTVLLPP NSYGRDQDTS LCCLCTEASE SALPDLTDHF ASCVEDGFEG DKTGGSSPEA
LHRPYGCDVE PQALNEAIRW SSKENLLGAT ESDPNLFVAL YDFVASGDNT LSITKGEKLR
VLGYNQNGEW SEVRSKNGQG WVPSNYITPV NSLEKHSWYH GPVSRSAAEY LLSSLINGSF
LVRESESSPG QLSISLRYEG RVYHYRINTT ADGKVYVTAE SRFSTLAELV HHHSTVADGL
VTTLHYPAPK CNKPTVYGVS PIHDKWEMER TDITMKHKLG GGQYGEVYVG VWKKYSLTVA
VKTLKEDTME VEEFLKEAAV MKEIKHPNLV QLLGVCTLEP PFYIVTEYMP YGNLLDYLRE
CNREEVTAVV LLYMATQISS AMEYLEKKNF IHRDLAARNC LVGENHVVKV ADFGLSRLMT
GDTYTAHAGA KFPIKWTAPE SLAYNTFSIK SDVWAFGVLL WEIATYGMSP YPGIDLSQVY
DLLEKGYRME QPEGCPPKVY ELMRACWKWS PADRPSFAET HQAFETMFHD SSISEEVAEE
LGRAASSSSV VPYLPRLPIL PSKTRTLKKQ VENKENIEGA QDATENSASS LAPGFIRGAQ
ASSGSPALPR KQRDKSPSSL LEDAKETCFT RDRKGGFFSS FMKKRNAPTP PKRSSSFREM
ENQPHKKYEL TGNFSSVASL QHADGFSFTP AQQEANLVPP KCYGGSFAQR NLCNDDGGGG
GGSGTAGGGW SGITGFFTPR LIKKTLGLRA GKPTASDDTS KPFPRSNSTS SMSSGLPEQD
RMAMTLPRNC QRSKLQLERT VSTSSQPEEN VDRANDMLPK KSEESAAPSR ERPKAKLLPR
GATALPLRTP SGDLAITEKD PPGVGVAGVA AAPKGKEKNG GARLGMAGVP EDGEQPGWPS
PAKAAPVLPT THNHKVPVLI SPTLKHTPAD VQLIGTDSQG NKFKLLSEHQ VTSSGDKDRP
RRVKPKCAPP PPPVMRLLQH PSICSDPTEE PTALTAGQST SETQEGGKKA ALGAVPISGK
AGRPVMPPPQ VPLPTSSISP AKMANGTAGT KVALRKTKQA AEKISADKIS KEALLECADL
LSSALTEPVP NSQLVDTGHQ LLDYCSGYVD CIPQTRNKFA FREAVSKLEL SLQELQVSSA
AAGVPGTNPV LNNLLSCVQE ISDVVQR*

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

13 / 13

Last intron/exon boundary

1792

Theoretical NMD boundary in CDS

1729

Length of CDS

3504

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

118970

Chromosomal position

179110715

Speed

0.03 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:

1:179110715T>A_5_ENST00000367623

Back to summary table

Prediction:

BenignPermalink

Summary:

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

Analysed issue

Analysis result

Variant

Chr1:179110715T>A (GRCh38)

Gene symbol

ABL2

Gene constraints

LOEUF: 0.60, LOF (oe): 0.47, misssense (oe): 0.83, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000367623.8

Genbank transcript ID

NM_001168236 (by similarity), NM_001136001 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1589-260A>T
g.118970A>T

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 'A' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.304	0
	-0.839	0
(flanking)	-0.014	0

?

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

1

Strand

-1

Original gDNA sequence snippet

ACATCCATCAAGAGGAGAACAGGTGGATTGTGGTATATTCA

Altered gDNA sequence snippet

ACATCCATCAAGAGGAGAACTGGTGGATTGTGGTATATTCA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGQQVGRVGE APGLQQPQPR GIRGSSAARP SGRRRDPAGR TTETGFNIFT QHEALHRPYG
CDVEPQALNE AIRWSSKENL LGATESDPNL FVALYDFVAS GDNTLSITKG EKLRVLGYNQ
NGEWSEVRSK NGQGWVPSNY ITPVNSLEKH SWYHGPVSRS AAEYLLSSLI NGSFLVRESE
SSPGQLSISL RYEGRVYHYR INTTADGKVY VTAESRFSTL AELVHHHSTV ADGLVTTLHY
PAPKCNKPTV YGVSPIHDKW EMERTDITMK HKLGGGQYGE VYVGVWKKYS LTVAVKTLKE
DTMEVEEFLK EAAVMKEIKH PNLVQLLGVC TLEPPFYIVT EYMPYGNLLD YLRECNREEV
TAVVLLYMAT QISSAMEYLE KKNFIHRDLA ARNCLVGENH VVKVADFGLS RLMTGDTYTA
HAGAKFPIKW TAPESLAYNT FSIKSDVWAF GVLLWEIATY GMSPYPGIDL SQVYDLLEKG
YRMEQPEGCP PKVYELMRAC WKWSPADRPS FAETHQAFET MFHDSSISEE VAEELGRAAS
SSSVVPYLPR LPILPSKTRT LKKQVENKEN IEGAQDATEN SASSLAPGFI RGAQASSGSP
ALPRKQRDKS PSSLLEDAKE TCFTRDRKGG FFSSFMKKRN APTPPKRSSS FREMENQPHK
KYELTGNFSS VASLQHADGF SFTPAQQEAN LVPPKCYGGS FAQRNLCNDD GGGGGGSGTA
GGGWSGITGF FTPRLIKKTL GLRAGKPTAS DDTSKPFPRS NSTSSMSSGL PEQDRMAMTL
PRNCQRSKLQ LERTVSTSSQ PEENVDRAND MLPKKSEESA APSRERPKAK LLPRGATALP
LRTPSGDLAI TEKDPPGVGV AGVAAAPKGK EKNGGARLGM AGVPEDGEQP GWPSPAKAAP
VLPTTHNHKV PVLISPTLKH TPADVQLIGT DSQGNKFKLL SEHQVTSSGD KDRPRRVKPK
CAPPPPPVMR LLQHPSICSD PTEEPTALTA GQSTSETQEG GKKAALGAVP ISGKAGRPVM
PPPQVPLPTS SISPAKMANG TAGTKVALRK TKQAAEKISA DKISKEALLE CADLLSSALT
EPVPNSQLVD TGHQLLDYCS GYVDCIPQTR NKFAFREAVS KLELSLQELQ VSSAAAGVPG
TNPVLNNLLS CVQEISDVVQ R*

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

1 / 1

Last intron/exon boundary

1762

Theoretical NMD boundary in CDS

1711

Length of CDS

3486

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

118970

Chromosomal position

179110715

Speed

0.03 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:

1:179110715T>A_6_ENST00000502732

Back to summary table

Prediction:

BenignPermalink

Summary:

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

Analysed issue

Analysis result

Variant

Chr1:179110715T>A (GRCh38)

Gene symbol

ABL2

Gene constraints

LOEUF: 0.58, LOF (oe): 0.45, misssense (oe): 0.83, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000502732.6

Genbank transcript ID

NM_007314 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1652-260A>T
g.118970A>T

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 'A' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.304	0
	-0.839	0
(flanking)	-0.014	0

?

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

1

Strand

-1

Original gDNA sequence snippet

ACATCCATCAAGAGGAGAACAGGTGGATTGTGGTATATTCA

Altered gDNA sequence snippet

ACATCCATCAAGAGGAGAACTGGTGGATTGTGGTATATTCA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGQQVGRVGE APGLQQPQPR GIRGSSAARP SGRRRDPAGR TTETGFNIFT QHDHFASCVE
DGFEGDKTGG SSPEALHRPY GCDVEPQALN EAIRWSSKEN LLGATESDPN LFVALYDFVA
SGDNTLSITK GEKLRVLGYN QNGEWSEVRS KNGQGWVPSN YITPVNSLEK HSWYHGPVSR
SAAEYLLSSL INGSFLVRES ESSPGQLSIS LRYEGRVYHY RINTTADGKV YVTAESRFST
LAELVHHHST VADGLVTTLH YPAPKCNKPT VYGVSPIHDK WEMERTDITM KHKLGGGQYG
EVYVGVWKKY SLTVAVKTLK EDTMEVEEFL KEAAVMKEIK HPNLVQLLGV CTLEPPFYIV
TEYMPYGNLL DYLRECNREE VTAVVLLYMA TQISSAMEYL EKKNFIHRDL AARNCLVGEN
HVVKVADFGL SRLMTGDTYT AHAGAKFPIK WTAPESLAYN TFSIKSDVWA FGVLLWEIAT
YGMSPYPGID LSQVYDLLEK GYRMEQPEGC PPKVYELMRA CWKWSPADRP SFAETHQAFE
TMFHDSSISE EVAEELGRAA SSSSVVPYLP RLPILPSKTR TLKKQVENKE NIEGAQDATE
NSASSLAPGF IRGAQASSGS PALPRKQRDK SPSSLLEDAK ETCFTRDRKG GFFSSFMKKR
NAPTPPKRSS SFREMENQPH KKYELTGNFS SVASLQHADG FSFTPAQQEA NLVPPKCYGG
SFAQRNLCND DGGGGGGSGT AGGGWSGITG FFTPRLIKKT LGLRAGKPTA SDDTSKPFPR
SNSTSSMSSG LPEQDRMAMT LPRNCQRSKL QLERTVSTSS QPEENVDRAN DMLPKKSEES
AAPSRERPKA KLLPRGATAL PLRTPSGDLA ITEKDPPGVG VAGVAAAPKG KEKNGGARLG
MAGVPEDGEQ PGWPSPAKAA PVLPTTHNHK VPVLISPTLK HTPADVQLIG TDSQGNKFKL
LSEHQVTSSG DKDRPRRVKP KCAPPPPPVM RLLQHPSICS DPTEEPTALT AGQSTSETQE
GGKKAALGAV PISGKAGRPV MPPPQVPLPT SSISPAKMAN GTAGTKVALR KTKQAAEKIS
ADKISKEALL ECADLLSSAL TEPVPNSQLV DTGHQLLDYC SGYVDCIPQT RNKFAFREAV
SKLELSLQEL QVSSAAAGVP GTNPVLNNLL SCVQEISDVV QR*

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

281 / 281

Last intron/exon boundary

2105

Theoretical NMD boundary in CDS

1774

Length of CDS

3549

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

118970

Chromosomal position

179110715

Speed

0.03 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:

1:179110715T>A_7_ENST00000344730

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Prediction:

BenignPermalink

Summary:

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

Analysed issue

Analysis result

Variant

Chr1:179110715T>A (GRCh38)

Gene symbol

ABL2

Gene constraints

LOEUF: 0.55, LOF (oe): 0.43, misssense (oe): 0.78, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000344730.8

Genbank transcript ID

NM_001136000 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1607-260A>T
g.118970A>T

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 'A' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.304	0
	-0.839	0
(flanking)	-0.014	0

?

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

1

Strand

-1

Original gDNA sequence snippet

ACATCCATCAAGAGGAGAACAGGTGGATTGTGGTATATTCA

Altered gDNA sequence snippet

ACATCCATCAAGAGGAGAACTGGTGGATTGTGGTATATTCA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MVLGTVLLPP NSYGRDQDTS LCCLCTEASE SALPDLTDHF ASCVEDGFEG DKTGGSSPEA
LHRPYGCDVE PQALNEAIRW SSKENLLGAT ESDPNLFVAL YDFVASGDNT LSITKGEKLR
VLGYNQNGEW SEVRSKNGQG WVPSNYITPV NSLEKHSWYH GPVSRSAAEY LLSSLINGSF
LVRESESSPG QLSISLRYEG RVYHYRINTT ADGKVYVTAE SRFSTLAELV HHHSTVADGL
VTTLHYPAPK CNKPTVYGVS PIHDKWEMER TDITMKHKLG GGQYGEVYVG VWKKYSLTVA
VKTLKEDTME VEEFLKEAAV MKEIKHPNLV QLLGVCTLEP PFYIVTEYMP YGNLLDYLRE
CNREEVTAVV LLYMATQISS AMEYLEKKNF IHRDLAARNC LVGENHVVKV ADFGLSRLMT
GDTYTAHAGA KFPIKWTAPE SLAYNTFSIK SDVWAFGVLL WEIATYGMSP YPGIDLSQVY
DLLEKGYRME QPEGCPPKVY ELMRACWKWS PADRPSFAET HQAFETMFHD SSISEEVAEE
LGRAASSSSV VPYLPRLPIL PSKTRTLKKQ VENKENIEGA QDATENSASS LAPGFIRGAQ
ASSGSPALPR KQRDKSPSSL LEDAKETCFT RDRKGGFFSS FMKKRNAPTP PKRSSSFREM
ENQPHKKYEL TGLPEQDRMA MTLPRNCQRS KLQLERTVST SSQPEENVDR ANDMLPKKSE
ESAAPSRERP KAKLLPRGAT ALPLRTPSGD LAITEKDPPG VGVAGVAAAP KGKEKNGGAR
LGMAGVPEDG EQPGWPSPAK AAPVLPTTHN HKVPVLISPT LKHTPADVQL IGTDSQGNKF
KLLSEHQVTS SGDKDRPRRV KPKCAPPPPP VMRLLQHPSI CSDPTEEPTA LTAGQSTSET
QEGGKKAALG AVPISGKAGR PVMPPPQVPL PTSSISPAKM ANGTAGTKVA LRKTKQAAEK
ISADKISKEA LLECADLLSS ALTEPVPNSQ LVDTGHQLLD YCSGYVDCIP QTRNKFAFRE
AVSKLELSLQ ELQVSSAAAG VPGTNPVLNN LLSCVQEISD VVQR*

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

33 / 33

Last intron/exon boundary

2046

Theoretical NMD boundary in CDS

1963

Length of CDS

3195

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

118970

Chromosomal position

179110715

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

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