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: ENST00000361445
Querying Taster for transcript #2: ENST00000376819
Querying Taster for transcript #3: ENST00000703143
Querying Taster for transcript #4: ENST00000703140
MT speed 0.36 s - this script 2.740201 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000361445(MANE Select)	MTOR	Benign	0\|200	without_aae	No	Single base exchange	N/A
ENST00000703143	MTOR	Benign	1\|199	without_aae	No	Single base exchange	N/A
ENST00000703140	MTOR	Benign	1\|199	without_aae	No	Single base exchange	N/A
ENST00000376819(MANE Select)	ANGPTL7	Benign	32\|68	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

1:11189619A>G_1_ENST00000361445

Back to summary table

Prediction:

BenignPermalink

Summary:

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

Analysed issue

Analysis result

Variant

Chr1:11189619A>G (GRCh38)

Gene symbol

MTOR

Gene constraints

LOEUF: 0.27, LOF (oe): 0.22, misssense (oe): 0.55, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000361445.9

Genbank transcript ID

NM_004958 (exact from MANE), NM_001386501 (by similarity), NM_001386500 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.4253+9639T>C
g.72938T>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs766763173
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	41	41

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.454	0.093
	-0.211	0.021
(flanking)	3.113	0.583

?

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

GACAAAGGCCACGATGAAAATGCAGAGCCAGGTCACAGCTG

Altered gDNA sequence snippet

GACAAAGGCCACGATGAAAACGCAGAGCCAGGTCACAGCTG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MLGTGPAAAT TAATTSSNVS VLQQFASGLK SRNEETRAKA AKELQHYVTM ELREMSQEES
TRFYDQLNHH IFELVSSSDA NERKGGILAI ASLIGVEGGN ATRIGRFANY LRNLLPSNDP
VVMEMASKAI GRLAMAGDTF TAEYVEFEVK RALEWLGADR NEGRRHAAVL VLRELAISVP
TFFFQQVQPF FDNIFVAVWD PKQAIREGAV AALRACLILT TQREPKEMQK PQWYRHTFEE
AEKGFDETLA KEKGMNRDDR IHGALLILNE LVRISSMEGE RLREEMEEIT QQQLVHDKYC
KDLMGFGTKP RHITPFTSFQ AVQPQQSNAL VGLLGYSSHQ GLMGFGTSPS PAKSTLVESR
CCRDLMEEKF DQVCQWVLKC RNSKNSLIQM TILNLLPRLA AFRPSAFTDT QYLQDTMNHV
LSCVKKEKER TAAFQALGLL SVAVRSEFKV YLPRVLDIIR AALPPKDFAH KRQKAMQVDA
TVFTCISMLA RAMGPGIQQD IKELLEPMLA VGLSPALTAV LYDLSRQIPQ LKKDIQDGLL
KMLSLVLMHK PLRHPGMPKG LAHQLASPGL TTLPEASDVG SITLALRTLG SFEFEGHSLT
QFVRHCADHF LNSEHKEIRM EAARTCSRLL TPSIHLISGH AHVVSQTAVQ VVADVLSKLL
VVGITDPDPD IRYCVLASLD ERFDAHLAQA ENLQALFVAL NDQVFEIREL AICTVGRLSS
MNPAFVMPFL RKMLIQILTE LEHSGIGRIK EQSARMLGHL VSNAPRLIRP YMEPILKALI
LKLKDPDPDP NPGVINNVLA TIGELAQVSG LEMRKWVDEL FIIIMDMLQD SSLLAKRQVA
LWTLGQLVAS TGYVVEPYRK YPTLLEVLLN FLKTEQNQGT RREAIRVLGL LGALDPYKHK
VNIGMIDQSR DASAVSLSES KSSQDSSDYS TSEMLVNMGN LPLDEFYPAV SMVALMRIFR
DQSLSHHHTM VVQAITFIFK SLGLKCVQFL PQVMPTFLNV IRVCDGAIRE FLFQQLGMLV
SFVKSHIRPY MDEIVTLMRE FWVMNTSIQS TIILLIEQIV VALGGEFKLY LPQLIPHMLR
VFMHDNSPGR IVSIKLLAAI QLFGANLDDY LHLLLPPIVK LFDAPEAPLP SRKAALETVD
RLTESLDFTD YASRIIHPIV RTLDQSPELR STAMDTLSSL VFQLGKKYQI FIPMVNKVLV
RHRINHQRYD VLICRIVKGY TLADEEEDPL IYQHRMLRSG QGDALASGPV ETGPMKKLHV
STINLQKAWG AARRVSKDDW LEWLRRLSLE LLKDSSSPSL RSCWALAQAY NPMARDLFNA
AFVSCWSELN EDQQDELIRS IELALTSQDI AEVTQTLLNL AEFMEHSDKG PLPLRDDNGI
VLLGERAAKC RAYAKALHYK ELEFQKGPTP AILESLISIN NKLQQPEAAA GVLEYAMKHF
GELEIQATWY EKLHEWEDAL VAYDKKMDTN KDDPELMLGR MRCLEALGEW GQLHQQCCEK
WTLVNDETQA KMARMAAAAA WGLGQWDSME EYTCMIPRDT HDGAFYRAVL ALHQDLFSLA
QQCIDKARDL LDAELTAMAG ESYSRAYGAM VSCHMLSELE EVIQYKLVPE RREIIRQIWW
ERLQGCQRIV EDWQKILMVR SLVVSPHEDM RTWLKYASLC GKSGRLALAH KTLVLLLGVD
PSRQLDHPLP TVHPQVTYAY MKNMWKSARK IDAFQHMQHF VQTMQQQAQH AIATEDQQHK
QELHKLMARC FLKLGEWQLN LQGINESTIP KVLQYYSAAT EHDRSWYKAW HAWAVMNFEA
VLHYKHQNQA RDEKKKLRHA SGANITNATT AATTAATATT TASTEGSNSE SEAESTENSP
TPSPLQKKVT EDLSKTLLMY TVPAVQGFFR SISLSRGNNL QDTLRVLTLW FDYGHWPDVN
EALVEGVKAI QIDTWLQVIP QLIARIDTPR PLVGRLIHQL LTDIGRYHPQ ALIYPLTVAS
KSTTTARHNA ANKILKNMCE HSNTLVQQAM MVSEELIRVA ILWHEMWHEG LEEASRLYFG
ERNVKGMFEV LEPLHAMMER GPQTLKETSF NQAYGRDLME AQEWCRKYMK SGNVKDLTQA
WDLYYHVFRR ISKQLPQLTS LELQYVSPKL LMCRDLELAV PGTYDPNQPI IRIQSIAPSL
QVITSKQRPR KLTLMGSNGH EFVFLLKGHE DLRQDERVMQ LFGLVNTLLA NDPTSLRKNL
SIQRYAVIPL STNSGLIGWV PHCDTLHALI RDYREKKKIL LNIEHRIMLR MAPDYDHLTL
MQKVEVFEHA VNNTAGDDLA KLLWLKSPSS EVWFDRRTNY TRSLAVMSMV GYILGLGDRH
PSNLMLDRLS GKILHIDFGD CFEVAMTREK FPEKIPFRLT RMLTNAMEVT GLDGNYRITC
HTVMEVLREH KDSVMAVLEA FVYDPLLNWR LMDTNTKGNK RSRTRTDSYS AGQSVEILDG
VELGEPAHKK TGTTVPESIH SFIGDGLVKP EALNKKAIQI INRVRDKLTG RDFSHDDTLD
VPTQVELLIK QATSHENLCQ CYIGWCPFW*

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

122 / 122

Last intron/exon boundary

7755

Theoretical NMD boundary in CDS

7583

Length of CDS

7650

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

72938

Chromosomal position

11189619

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:

1:11189619A>G_3_ENST00000703143

Back to summary table

Prediction:

BenignPermalink

Summary:

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

Analysed issue

Analysis result

Variant

Chr1:11189619A>G (GRCh38)

Gene symbol

MTOR

Gene constraints

no data

Ensembl transcript ID

ENST00000703143.2

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.4253+9639T>C
g.72938T>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs766763173
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	41	41

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.454	0.093
	-0.211	0.021
(flanking)	3.113	0.583

?

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

GACAAAGGCCACGATGAAAATGCAGAGCCAGGTCACAGCTG

Altered gDNA sequence snippet

GACAAAGGCCACGATGAAAACGCAGAGCCAGGTCACAGCTG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MLGTGPAAAT TAATTSSNVS VLQQFASGLK SRNEETRAKA AKELQHYVTM ELREMSQEES
TRFYDQLNHH IFELVSSSDA NERKGGILAI ASLIGVEGGN ATRIGRFANY LRNLLPSNDP
VVMEMASKAI GRLAMAGDTF TAEYVEFEVK RALEWLGADR NEGRRHAAVL VLRELAISVP
TFFFQQVQPF FDNIFVAVWD PKQAIREGAV AALRACLILT TQREPKEMQK PQWYRHTFEE
AEKGFDETLA KEKGMNRDDR IHGALLILNE LVRISSMEGE RLREEMEEIT QQQLVHDKYC
KDLMGFGTKP RHITPFTSFQ AVQPQQSNAL VGLLGYSSHQ GLMGFGTSPS PAKSTLVESR
CCRDLMEEKF DQVCQWVLKC RNSKNSLIQM TILNLLPRLA AFRPSAFTDT QYLQDTMNHV
LSCVKKEKER TAAFQALGLL SVAVRSEFKV YLPRVLDIIR AALPPKDFAH KRQKAMQVDA
TVFTCISMLA RAMGPGIQQD IKELLEPMLA VGLSPALTAV LYDLSRQIPQ LKKDIQDGLL
KMLSLVLMHK PLRHPGMPKG LAHQLASPGL TTLPEASDVG SITLALRTLG SFEFEGHSLT
QFVRHCADHF LNSEHKEIRM EAARTCSRLL TPSIHLISGH AHVVSQTAVQ VVADVLSKLL
VVGITDPDPD IRYCVLASLD ERFDAHLAQA ENLQALFVAL NDQVFEIREL AICTVGRLSS
MNPAFVMPFL RKMLIQILTE LEHSGIGRIK EQSARMLGHL VSNAPRLIRP YMEPILKALI
LKLKDPDPDP NPGVINNVLA TIGELAQVSG LEMRKWVDEL FIIIMDMLQD SSLLAKRQVA
LWTLGQLVAS TGYVVEPYRK YPTLLEVLLN FLKTEQNQGT RREAIRVLGL LGALDPYKHK
VNIGMIDQSR DASAVSLSES KSSQDSSDYS TSEMLVNMGN LPLDEFYPAV SMVALMRIFR
DQSLSHHHTM VVQAITFIFK SLGLKCVQFL PQVMPTFLNV IRVCDGAIRE FLFQQLGMLV
SFVKSHIRPY MDEIVTLMRE FWVMNTSIQS TIILLIEQIV VALGGEFKLY LPQLIPHMLR
VFMHDNSPGR IVSIKLLAAI QLFGANLDDY LHLLLPPIVK LFDAPEAPLP SRKAALETVD
RLTESLDFTD YASRIIHPIV RTLDQSPELR STAMDTLSSL VFQLGKKYQI FIPMVNKVLV
RHRINHQRYD VLICRIVKGY TLADEEEDPL IYQHRMLRSG QGDALASGPV ETGPMKKLHV
STINLQKAWG AARRVSKDDW LEWLRRLSLE LLKDSSSPSL RSCWALAQAY NPMARDLFNA
AFVSCWSELN EDQQDELIRS IELALTSQDI AEVTQTLLNL AEFMEHSDKG PLPLRDDNGI
VLLGERAAKC RAYAKALHYK ELEFQKGPTP AILESLISIN NKLQQPEAAA GVLEYAMKHF
GELEIQATWY EKLHEWEDAL VAYDKKMDTN KDDPELMLGR MRCLEALGEW GQLHQQCCEK
WTLVNDETQA KMARMAAAAA WGLGQWDSME EYTCMIPRDT HDGAFYRAVL ALHQDLFSLA
QQCIDKARDL LDAELTAMAG ESYSRAYGAM VSCHMLSELE EVIQYKLVPE RREIIRQIWW
ERLQGCQRIV EDWQKILMVR SLVVSPHEDM RTWLKYASLC GKSGRLALAH KTLVLLLGVD
PSRQLDHPLP TVHPQVTYAY MKNMWKSARK IDAFQHMQHF VQTMQQQAQH AIATEDQQHK
QELHKLMARC FLKLGEWQLN LQGINESTIP KVLQYYSAAT EHDRSWYKAW HAWAVMNFEA
VLHYKHQNQA RDEKKKLRHA SGANITNATT AATTAATATT TASTEGSNSE SEAESTENSP
TPSPLQKKVT EDLSKTLLMY TVPAVQGFFR SISLSRGNNL QDTLRVLTLW FDYGHWPDVN
EALVEGVKAI QIDTWLQVIP QLIARIDTPR PLVGRLIHQL LTDIGRYHPQ ALIYPLTVAS
KSTTTARHNA ANKILKNMCE HSNTLVQQAM MVSEELIRVA ILWHEMWHEG LEEASRLYFG
ERNVKGMFEV LEPLHAMMER GPQTLKETSF NQAYGRDLME AQEWCRKYMK SGNVKDLTQA
WDLYYHVFRR ISKQLPQLTS LELQYVSPKL LMCRDLELAV PGTYDPNQPI IRIQSIAPSL
QVITSKQRPR KLTLMGSNGH EFVFLLKGHE DLRQDERVMQ LFGLVNTLLA NDPTSLRKNL
SIQRYAVIPL STNSGLIGWV PHCDTLHALI RDYREKKKIL LNIEHRIMLR MAPDYDHLTL
MQKVEVFEHA VNNTAGDDLA KLLWLKSPSS EVWFDRRTNY TRSLAVMSMV GYILGLGDRH
PSNLMLDRLS GKILHIDFGD CFEVAMTREK FPEKIPFRLT RMLTNAMEVT GLDGNYRITC
HTVMEVLREH KDSVMAVLEA FVYDPLLNWR LMDTNTKGNK RSRTRTDSYS AGQSVEILDG
VELGEPAHKK TGTTVPESIH SFIGDGLVKP EALNKKAIQI INRVRDKLTG RDFSHDDTLD
VPTQVELLIK QATSHENLCQ CYIGWCPFW*

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

330 / 330

Last intron/exon boundary

7963

Theoretical NMD boundary in CDS

7583

Length of CDS

7650

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

72938

Chromosomal position

11189619

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:

1:11189619A>G_4_ENST00000703140

Back to summary table

Prediction:

BenignPermalink

Summary:

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

Analysed issue

Analysis result

Variant

Chr1:11189619A>G (GRCh38)

Gene symbol

MTOR

Gene constraints

no data

Ensembl transcript ID

ENST00000703140.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.4040+9639T>C
g.72938T>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs766763173
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	41	41

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.454	0.093
	-0.211	0.021
(flanking)	3.113	0.583

?

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

GACAAAGGCCACGATGAAAATGCAGAGCCAGGTCACAGCTG

Altered gDNA sequence snippet

GACAAAGGCCACGATGAAAACGCAGAGCCAGGTCACAGCTG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MLGTGPAAAT TAATTSSNVS VLQQFASGLK SRNEETRAKA AKELQHYVTM ELREMSQEES
TRFYDQLNHH IFELVSSSDA NERKGGILAI ASLIGVEGGN ATRIGRFANY LRNLLPSNDP
VVMEMASKAI GRLAMAGDTF TAEYVEFEVK RALEWLGADR NEGRRHAAVL VLRELAISVP
TFFFQQVQPF FDNIFVAVWD PKQAIREGAV AALRACLILT TQREPKEMQK PQWYRHTFEE
AEKGFDETLA KEKGMNRDDR IHGALLILNE LVRISSMEGE RLREEMEEIT QQQLVHDKYC
KDLMGFGTKP RHITPFTSFQ AVQPQQSNAL VGLLGYSSHQ GLMGFGTSPS PAKSTLVESR
CCRDLMEEKF DQVCQWVLKC RNSKNSLIQM TILNLLPRLA AFRPSAFTDT QYLQDTMNHV
LSCVKKEKER TAAFQALGLL SVAVRSEFKV YLPRVLDIIR AALPPKDFAH KRQKAMQVDA
TVFTCISMLA RAMGPGIQQD IKELLEPMLA VGLSPALTAV LYDLSRQIPQ LKKDIQDGLL
KMLSLVLMHK PLRHPGMPKG LAHQLASPGL TTLPEASDVG SITLALRTLG SFEFEGHSLT
QFVRHCADHF LNSEHKEIRM EAARTCSRLL TPSIHLISGH AHVVSQTAVQ VVADVLSKLL
VVGITDPDPD IRYCVLASLD ERFDAHLAQA ENLQALFVAL NDQVFEIREL AICTVGRLSS
MNPAFVMPFL RKMLIQVSGL EMRKWVDELF IIIMDMLQDS SLLAKRQVAL WTLGQLVAST
GYVVEPYRKY PTLLEVLLNF LKTEQNQGTR REAIRVLGLL GALDPYKHKV NIGMIDQSRD
ASAVSLSESK SSQDSSDYST SEMLVNMGNL PLDEFYPAVS MVALMRIFRD QSLSHHHTMV
VQAITFIFKS LGLKCVQFLP QVMPTFLNVI RVCDGAIREF LFQQLGMLVS FVKSHIRPYM
DEIVTLMREF WVMNTSIQST IILLIEQIVV ALGGEFKLYL PQLIPHMLRV FMHDNSPGRI
VSIKLLAAIQ LFGANLDDYL HLLLPPIVKL FDAPEAPLPS RKAALETVDR LTESLDFTDY
ASRIIHPIVR TLDQSPELRS TAMDTLSSLV FQLGKKYQIF IPMVNKVLVR HRINHQRYDV
LICRIVKGYT LADEEEDPLI YQHRMLRSGQ GDALASGPVE TGPMKKLHVS TINLQKAWGA
ARRVSKDDWL EWLRRLSLEL LKDSSSPSLR SCWALAQAYN PMARDLFNAA FVSCWSELNE
DQQDELIRSI ELALTSQDIA EVTQTLLNLA EFMEHSDKGP LPLRDDNGIV LLGERAAKCR
AYAKALHYKE LEFQKGPTPA ILESLISINN KLQQPEAAAG VLEYAMKHFG ELEIQATWYE
KLHEWEDALV AYDKKMDTNK DDPELMLGRM RCLEALGEWG QLHQQCCEKW TLVNDETQAK
MARMAAAAAW GLGQWDSMEE YTCMIPRDTH DGAFYRAVLA LHQDLFSLAQ QCIDKARDLL
DAELTAMAGE SYSRAYGAMV SCHMLSELEE VIQYKLVPER REIIRQIWWE RLQGCQRIVE
DWQKILMVRS LVVSPHEDMR TWLKYASLCG KSGRLALAHK TLVLLLGVDP SRQLDHPLPT
VHPQVTYAYM KNMWKSARKI DAFQHMQHFV QTMQQQAQHA IATEDQQHKQ ELHKLMARCF
LKLGEWQLNL QGINESTIPK VLQYYSAATE HDRSWYKAWH AWAVMNFEAV LHYKHQNQAR
DEKKKLRHAS GANITNATTA ATTAATATTT ASTEGSNSES EAESTENSPT PSPLQKKVTE
DLSKTLLMYT VPAVQGFFRS ISLSRGNNLQ DTLRVLTLWF DYGHWPDVNE ALVEGVKAIQ
IDTWLQVIPQ LIARIDTPRP LVGRLIHQLL TDIGRYHPQA LIYPLTVASK STTTARHNAA
NKILKNMCEH SNTLVQQAMM VSEELIRVAI LWHEMWHEGL EEASRLYFGE RNVKGMFEVL
EPLHAMMERG PQTLKETSFN QAYGRDLMEA QEWCRKYMKS GNVKDLTQAW DLYYHVFRRI
SKQLPQLTSL ELQYVSPKLL MCRDLELAVP GTYDPNQPII RIQSIAPSLQ VITSKQRPRK
LTLMGSNGHE FVFLLKGHED LRQDERVMQL FGLVNTLLAN DPTSLRKNLS IQRYAVIPLS
TNSGLIGWVP HCDTLHALIR DYREKKKILL NIEHRIMLRM APDYDHLTLM QKVEVFEHAV
NNTAGDDLAK LLWLKSPSSE VWFDRRTNYT RSLAVMSMVG YILGLGDRHP SNLMLDRLSG
KILHIDFGDC FEVAMTREKF PEKIPFRLTR MLTNAMEVTG LDGNYRITCH TVMEVLREHK
DSVMAVLEAF VYDPLLNWRL MDTNTKGNKR SRTRTDSYSA GQSVEILDGV ELGEPAHKKT
GTTVPESIHS FIGDGLVKPE ALNKKAIQII NRVRDKLTGR DFSHDDTLDV PTQVELLIKQ
ATSHENLCQC YIGWCPFW*

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

101 / 101

Last intron/exon boundary

7521

Theoretical NMD boundary in CDS

7370

Length of CDS

7437

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

72938

Chromosomal position

11189619

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:

1:11189619A>G_2_ENST00000376819

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 32|68 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:11189619A>G (GRCh38)

Gene symbol

ANGPTL7

Gene constraints

LOEUF: 1.23, LOF (oe): 0.94, misssense (oe): 0.93, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000376819.4

Genbank transcript ID

NM_021146 (exact from MANE)

UniProt / AlphaMissense peptide

ANGL7_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.40A>G
g.265A>G

AA changes

AAE:	I14V	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs766763173
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	41	41

Protein conservation

Species	Match	AA	Alignment
Human		14	K	K	P	L	S	A	V	T	W	L	C	I	F	I	V	A	F	V	S	H	P	A	W	L
mutated	all conserved	14	K	K	P	L	S	A	V	T	W	L	C	V	F	I	V	A	F	V	S	H	P	A	W
Ptroglodytes	all identical	14	K	K	P	L	S	A	V	T	W	L	C	I	F	I	V	A	F	V	S	H	P	A	W
Mmulatta	all identical	14	K	K	P	L	S	A	V	T	W	L	C	I	F	I	V	A	F	V	S	H	P	A	W
Fcatus	all identical	14	K	K	T	L	S	A	M	T	W	L	C	I	F	I	T	A	F	V	S	H	P	A	W
Mmusculus	all conserved	9								T	W	L	C	V	I	L	V	A	F	V	S	H	P	V	W
Ggallus	all identical	14							L	A	W	L	C	I	I	T	V	S	V	A	V	Y	P	A	L
Trubripes	no alignment	n/a
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	9									F	I	C	I	A	V	L	I	FSL	A	A	S	P	A	T

Protein features

Start (aa)	End (aa)	Feature	Details
1	26	SIGNAL		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.454	0.093
	-0.211	0.021
(flanking)	3.113	0.583

?

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

1

Strand

1

Original gDNA sequence snippet

CAGCTGTGACCTGGCTCTGCATTTTCATCGTGGCCTTTGTC

Altered gDNA sequence snippet

CAGCTGTGACCTGGCTCTGCGTTTTCATCGTGGCCTTTGTC

Original cDNA sequence snippet

CAGCTGTGACCTGGCTCTGCATTTTCATCGTGGCCTTTGTC

Altered cDNA sequence snippet

CAGCTGTGACCTGGCTCTGCGTTTTCATCGTGGCCTTTGTC

Wildtype AA sequence

MLKKPLSAVT WLCIFIVAFV SHPAWLQKLS KHKTPAQPQL KAANCCEEVK ELKAQVANLS
SLLSELNKKQ ERDWVSVVMQ VMELESNSKR MESRLTDAES KYSEMNNQID IMQLQAAQTV
TQTSADAIYD CSSLYQKNYR ISGVYKLPPD DFLGSPELEV FCDMETSGGG WTIIQRRKSG
LVSFYRDWKQ YKQGFGSIRG DFWLGNEHIH RLSRQPTRLR VEMEDWEGNL RYAEYSHFVL
GNELNSYRLF LGNYTGNVGN DALQYHNNTA FSTKDKDNDN CLDKCAQLRK GGYWYNCCTD
SNLNGVYYRL GEHNKHLDGI TWYGWHGSTY SLKRVEMKIR PEDFKP*

Mutated AA sequence

MLKKPLSAVT WLCVFIVAFV SHPAWLQKLS KHKTPAQPQL KAANCCEEVK ELKAQVANLS
SLLSELNKKQ ERDWVSVVMQ VMELESNSKR MESRLTDAES KYSEMNNQID IMQLQAAQTV
TQTSADAIYD CSSLYQKNYR ISGVYKLPPD DFLGSPELEV FCDMETSGGG WTIIQRRKSG
LVSFYRDWKQ YKQGFGSIRG DFWLGNEHIH RLSRQPTRLR VEMEDWEGNL RYAEYSHFVL
GNELNSYRLF LGNYTGNVGN DALQYHNNTA FSTKDKDNDN CLDKCAQLRK GGYWYNCCTD
SNLNGVYYRL GEHNKHLDGI TWYGWHGSTY SLKRVEMKIR PEDFKP*

Position of stopcodon in wt / mu CDS

1041 / 1041

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

347 / 347

Position of stopcodon in wt / mu cDNA

1266 / 1266

Position of start ATG in wt / mu cDNA

226 / 226

Last intron/exon boundary

1096

Theoretical NMD boundary in CDS

820

Length of CDS

1041

Coding sequence (CDS) position

40

cDNA position

265

gDNA position

265

Chromosomal position

11189619

Speed

0.29 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