Yum, tasty mutations...

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: ENST00000688308
Querying Taster for transcript #2: ENST00000700029
Querying Taster for transcript #3: ENST00000371953
Querying Taster for transcript #4: ENST00000713839
Querying Taster for transcript #5: ENST00000700021
Querying Taster for transcript #6: ENST00000472832
MT speed 0.52 s - this script 3.003166 s

Transcript summary:

Permalink
TranscriptGene symbolPredictionTree voteModelPrediction problemSplice site changeKnown ClinVar disease mutationPotential ClinVar disease mutationAmino acid changesVariant typedbSNP IDProtein lengthFeatures at a glance
PTENDeleterious10|0complex_aaeNoYesY174*Single base exchangeNMD
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 486227 (pathogenic)
  • NMD
PTENDeleterious10|0complex_aaeNoYesY174*Single base exchangeNMD
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 486227 (pathogenic)
  • NMD
  • Protein features (might be) affected
PTENDeleterious10|0complex_aaeNoYesY205*Single base exchangeNMD
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 486227 (pathogenic)
  • NMD
PTENDeleterious10|0complex_aaeNoYesY159*Single base exchangeNMD
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 486227 (pathogenic)
  • NMD
PTENDeleterious10|0complex_aaeNoYesY174*Single base exchangeNMD
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 486227 (pathogenic)
  • NMD
ENST00000371953(MANE Select)
PTENDeleterious10|0complex_aaeNoYesY174*Single base exchangeNMD
  • Amino acid sequence changed
  • Known disease mutation: ClinVar ID 486227 (pathogenic)
  • NMD
  • Protein features (might be) affected
Yum, tasty mutations...

MutationT@ster 2025

Variant:

10:87952147T>A_2_ENST00000700029

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: complex_aae
  • Tree vote: 10|0 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr10:87952147T>A (GRCh38)
Gene symbol PTEN
Gene constraints no data
Ensembl transcript ID ENST00000700029.2
Genbank transcript ID
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region CDS
DNA changes c.522T>A
g.89510T>A
AA changes Y174* Score: 6.0?
Frameshift No
Length of protein NMD
Pathogenic variant (ClinVar)
Hereditary cancer-predisposing syndromepathogenicClinVar
Variant DBs
Not in dbSNP
Allele 'A' was not found in gnomAD
Protein conservation
SpeciesMatchGeneAAAlignment
Human      174KKGVTIPSQRRYVYYYSYLLKNHL
mutated  no alignment    n/a
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
PhyloPPhastCons
(flanking)8.821
2.4381
(flanking)9.4651
?
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 10
Strand 1
Original gDNA sequence snippet ATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCT
Altered gDNA sequence snippet ATTCCCAGTCAGAGGCGCTAAGTGTATTATTATAGCTACCT
Original cDNA sequence snippet ATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCT
Altered cDNA sequence snippet ATTCCCAGTCAGAGGCGCTAAGTGTATTATTATAGCTACCT
Wildtype AA sequence MTAIIKEIVS RNKRRYQEDG FDLDLTYIYP NIIAMGFPAE RLEGVYRNNI DDVVRFLDSK
HKNHYKIYNL CAERHYDTAK FNCRVAQYPF EDHNPPQLEL IKPFCEDLDQ WLSEDDNHVA
AIHCKAGKGR TGVMICAYLL HRGKFLKAQE ALDFYGEVRT RDKKGVTIPS QRRYVYYYSY
LLKNHLDYRP VALLFHKMMF ETIPMFSGGT CNPQFVVCQL KVKIYSSNSG PTRREDKFMY
FEFPQPLPVC GDIKVEFFHK QNKMLKKGQG LTMLPRLVSN SWAQAVLTLW HPKELELQDK
MFHFWVNTFF IPGPEETSEK VENGSLCDQE IDSICSIERA DNDKEYLVLT LTKNDLDKAN
KDKANRYFSP NFKVKLYFTK TVEEPSNPEA SSSTSVTPDV SDNEPDHYRY SDTTDSDPEN
EPFDEDQHTQ ITKV*
Mutated AA sequence MTAIIKEIVS RNKRRYQEDG FDLDLTYIYP NIIAMGFPAE RLEGVYRNNI DDVVRFLDSK
HKNHYKIYNL CAERHYDTAK FNCRVAQYPF EDHNPPQLEL IKPFCEDLDQ WLSEDDNHVA
AIHCKAGKGR TGVMICAYLL HRGKFLKAQE ALDFYGEVRT RDKKGVTIPS QRR*
Position of stopcodon in wt / mu CDS 1305 / 522
Position (AA) of stopcodon in wt / mu AA sequence 435 / 174
Position of stopcodon in wt / mu cDNA 2150 / 1367
Position of start ATG in wt / mu cDNA 846 / 846
Last intron/exon boundary 1964
Theoretical NMD boundary in CDS 1068
Length of CDS 1305
Coding sequence (CDS) position 522
cDNA position 1367
gDNA position 89510
Chromosomal position 87952147
Speed 0.12 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
Yum, tasty mutations...

MutationT@ster 2025

Variant:

10:87952147T>A_1_ENST00000688308

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: complex_aae
  • Tree vote: 10|0 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr10:87952147T>A (GRCh38)
Gene symbol PTEN
Gene constraints LOEUF: 0.68, LOF (oe): 0.46, misssense (oe): 0.46, synonymous (oe): 0.80 ? (gnomAD)
Ensembl transcript ID ENST00000688308.1
Genbank transcript ID
UniProt / AlphaMissense peptide PTEN_HUMAN | AlphaMissense: transcript, gene
Variant type Single base exchange
Gene region CDS
DNA changes c.522T>A
g.89510T>A
AA changes Y174* Score: 6.0?
Frameshift No
Length of protein NMD
Pathogenic variant (ClinVar)
Hereditary cancer-predisposing syndromepathogenicClinVar
Variant DBs
Not in dbSNP
Allele 'A' was not found in gnomAD
Protein conservation
SpeciesMatchGeneAAAlignment
Human      174KKGVTIPSQRRYVYYYSYLLKNHL
mutated  no alignment    n/a
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)FeatureDetails 
2403CHAINlost
14185DOMAINPhosphatase tensin-typelost
169184HELIXlost
190350DOMAINC2 tensin-typelost
192202STRANDlost
206209STRANDlost
213219STRANDlost
222226STRANDlost
232235STRANDlost
238259STRANDlost
262264STRANDlost
268276STRANDlost
277279HELIXlost
280284STRANDlost
289289CROSSLNKGlycyl lysine isopeptide (Lys-Gly) lost
294294MOD_RESPhosphoserinelost
310312STRANDlost
315321STRANDlost
319319MOD_RESPhosphothreoninelost
321321MOD_RESPhosphothreoninelost
322324HELIXlost
328330HELIXlost
335337STRANDlost
336336MOD_RESPhosphotyrosinelost
338348REGIONRequiredlost
342349STRANDlost
352403REGIONlost
353370COMPBIASPolar residueslost
366366MOD_RESPhosphothreoninelost
370370MOD_RESPhosphoserinelost
371385COMPBIASBasic and acidic residueslost
380380MOD_RESPhosphoserinelost
382382MOD_RESPhosphothreoninelost
383383MOD_RESPhosphothreoninelost
385385MOD_RESPhosphoserinelost
395403STRANDlost
401401MOD_RESPhosphothreoninelost
401403MOTIFPDZ domain-bindinglost
Phylogenetic conservation
PhyloPPhastCons
(flanking)8.821
2.4381
(flanking)9.4651
?
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 10
Strand 1
Original gDNA sequence snippet ATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCT
Altered gDNA sequence snippet ATTCCCAGTCAGAGGCGCTAAGTGTATTATTATAGCTACCT
Original cDNA sequence snippet ATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCT
Altered cDNA sequence snippet ATTCCCAGTCAGAGGCGCTAAGTGTATTATTATAGCTACCT
Wildtype AA sequence MTAIIKEIVS RNKRRYQEDG FDLDLTYIYP NIIAMGFPAE RLEGVYRNNI DDVVRFLDSK
HKNHYKIYNL CAERHYDTAK FNCRVAQYPF EDHNPPQLEL IKPFCEDLDQ WLSEDDNHVA
AIHCKAGKGR TGVMICAYLL HRGKFLKAQE ALDFYGEVRT RDKKGVTIPS QRRYVYYYSY
LLKNHLDYRP VALLFHKMMF ETIPMFSGGT CNPQFVVCQL KVKIYSSNSG PTRREDKFMY
FEFPQPLPVC GDIKVEFFHK QNKMLKKDKM FHFWVNTFFI PGPEETSEKV ENGSLCDQEI
DSICSIERAD NDKEYLVLTL TKNDLDKANK DKANRYFSPN FKVKLYFTKT VEEPSNPEAS
SSTSVTPDVS DNEPDHYRYS DTTDSDPENE PFDEDQHTQI TKV*
Mutated AA sequence MTAIIKEIVS RNKRRYQEDG FDLDLTYIYP NIIAMGFPAE RLEGVYRNNI DDVVRFLDSK
HKNHYKIYNL CAERHYDTAK FNCRVAQYPF EDHNPPQLEL IKPFCEDLDQ WLSEDDNHVA
AIHCKAGKGR TGVMICAYLL HRGKFLKAQE ALDFYGEVRT RDKKGVTIPS QRR*
Position of stopcodon in wt / mu CDS 1212 / 522
Position (AA) of stopcodon in wt / mu AA sequence 404 / 174
Position of stopcodon in wt / mu cDNA 1704 / 1014
Position of start ATG in wt / mu cDNA 493 / 493
Last intron/exon boundary 1518
Theoretical NMD boundary in CDS 975
Length of CDS 1212
Coding sequence (CDS) position 522
cDNA position 1014
gDNA position 89510
Chromosomal position 87952147
Speed 0.05 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table
Yum, tasty mutations...

MutationT@ster 2025

Variant:

10:87952147T>A_4_ENST00000713839

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: complex_aae
  • Tree vote: 10|0 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr10:87952147T>A (GRCh38)
Gene symbol PTEN
Gene constraints no data
Ensembl transcript ID ENST00000713839.1
Genbank transcript ID
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region CDS
DNA changes c.615T>A
g.89510T>A
AA changes Y205* Score: 6.0?
Frameshift No
Length of protein NMD
Pathogenic variant (ClinVar)
Hereditary cancer-predisposing syndromepathogenicClinVar
Variant DBs
Not in dbSNP
Allele 'A' was not found in gnomAD
Protein conservation
SpeciesMatchGeneAAAlignment
Human      205KKGVTIPSQRRYVYYYSYLLKNHL
mutated  no alignment    n/a
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
PhyloPPhastCons
(flanking)8.821
2.4381
(flanking)9.4651
?
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 10
Strand 1
Original gDNA sequence snippet ATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCT
Altered gDNA sequence snippet ATTCCCAGTCAGAGGCGCTAAGTGTATTATTATAGCTACCT
Original cDNA sequence snippet ATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCT
Altered cDNA sequence snippet ATTCCCAGTCAGAGGCGCTAAGTGTATTATTATAGCTACCT
Wildtype AA sequence MTAIIKEIVS RNKRRYQEDG FDLDLTYIYP NIIAMGFPAE RLEGVYRNNI DDVVRDRVLP
YCPGGSRTPE PKQSALLSVP KCCDYRFLDS KHKNHYKIYN LCAERHYDTA KFNCRVAQYP
FEDHNPPQLE LIKPFCEDLD QWLSEDDNHV AAIHCKAGKG RTGVMICAYL LHRGKFLKAQ
EALDFYGEVR TRDKKGVTIP SQRRYVYYYS YLLKNHLDYR PVALLFHKMM FETIPMFSGG
TCNPQFVVCQ LKVKIYSSNS GPTRREDKFM YFEFPQPLPV CGDIKVEFFH KQNKMLKKDK
MFHFWVNTFF IPGPEETSEK VENGSLCDQE IDSICSIERA DNDKEYLVLT LTKNDLDKAN
KDKANRYFSP NFKVKLYFTK TVEEPSNPEA SSSTSVTPDV SDNEPDHYRY SDTTDSDPEN
EPFDEDQHTQ ITKV*
Mutated AA sequence MTAIIKEIVS RNKRRYQEDG FDLDLTYIYP NIIAMGFPAE RLEGVYRNNI DDVVRDRVLP
YCPGGSRTPE PKQSALLSVP KCCDYRFLDS KHKNHYKIYN LCAERHYDTA KFNCRVAQYP
FEDHNPPQLE LIKPFCEDLD QWLSEDDNHV AAIHCKAGKG RTGVMICAYL LHRGKFLKAQ
EALDFYGEVR TRDKKGVTIP SQRR*
Position of stopcodon in wt / mu CDS 1305 / 615
Position (AA) of stopcodon in wt / mu AA sequence 435 / 205
Position of stopcodon in wt / mu cDNA 2142 / 1452
Position of start ATG in wt / mu cDNA 838 / 838
Last intron/exon boundary 1956
Theoretical NMD boundary in CDS 1068
Length of CDS 1305
Coding sequence (CDS) position 615
cDNA position 1452
gDNA position 89510
Chromosomal position 87952147
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

Back to summary table
Yum, tasty mutations...

MutationT@ster 2025

Variant:

10:87952147T>A_5_ENST00000700021

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: complex_aae
  • Tree vote: 10|0 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr10:87952147T>A (GRCh38)
Gene symbol PTEN
Gene constraints no data
Ensembl transcript ID ENST00000700021.1
Genbank transcript ID NM_001304718 (by similarity)
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region CDS
DNA changes c.477T>A
g.89510T>A
AA changes Y159* Score: 6.0?
Frameshift No
Length of protein NMD
Pathogenic variant (ClinVar)
Hereditary cancer-predisposing syndromepathogenicClinVar
Variant DBs
Not in dbSNP
Allele 'A' was not found in gnomAD
Protein conservation
SpeciesMatchGeneAAAlignment
Human      159KKGVTIPSQRRYVYYYSYLLKNHL
mutated  no alignment    n/a
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
PhyloPPhastCons
(flanking)8.821
2.4381
(flanking)9.4651
?
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 10
Strand 1
Original gDNA sequence snippet ATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCT
Altered gDNA sequence snippet ATTCCCAGTCAGAGGCGCTAAGTGTATTATTATAGCTACCT
Original cDNA sequence snippet ATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCT
Altered cDNA sequence snippet ATTCCCAGTCAGAGGCGCTAAGTGTATTATTATAGCTACCT
Wildtype AA sequence MTAIIKEIVS RNKRRYQEDG FDLDLTYIYP NIIAMGFPAE RLEGVYRNNI DDVVSCAERH
YDTAKFNCRV AQYPFEDHNP PQLELIKPFC EDLDQWLSED DNHVAAIHCK AGKGRTGVMI
CAYLLHRGKF LKAQEALDFY GEVRTRDKKG VTIPSQRRYV YYYSYLLKNH LDYRPVALLF
HKMMFETIPM FSGGTCNPQF VVCQLKVKIY SSNSGPTRRE DKFMYFEFPQ PLPVCGDIKV
EFFHKQNKML KKDKMFHFWV NTFFIPGPEE TSEKVENGSL CDQEIDSICS IERADNDKEY
LVLTLTKNDL DKANKDKANR YFSPNFKVKL YFTKTVEEPS NPEASSSTSV TPDVSDNEPD
HYRYSDTTDS DPENEPFDED QHTQITKV*
Mutated AA sequence MTAIIKEIVS RNKRRYQEDG FDLDLTYIYP NIIAMGFPAE RLEGVYRNNI DDVVSCAERH
YDTAKFNCRV AQYPFEDHNP PQLELIKPFC EDLDQWLSED DNHVAAIHCK AGKGRTGVMI
CAYLLHRGKF LKAQEALDFY GEVRTRDKKG VTIPSQRR*
Position of stopcodon in wt / mu CDS 1167 / 477
Position (AA) of stopcodon in wt / mu AA sequence 389 / 159
Position of stopcodon in wt / mu cDNA 1842 / 1152
Position of start ATG in wt / mu cDNA 676 / 676
Last intron/exon boundary 1656
Theoretical NMD boundary in CDS 930
Length of CDS 1167
Coding sequence (CDS) position 477
cDNA position 1152
gDNA position 89510
Chromosomal position 87952147
Speed 0.06 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
Yum, tasty mutations...

MutationT@ster 2025

Variant:

10:87952147T>A_6_ENST00000472832

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: complex_aae
  • Tree vote: 10|0 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr10:87952147T>A (GRCh38)
Gene symbol PTEN
Gene constraints LOEUF: 0.78, LOF (oe): 0.40, misssense (oe): 0.54, synonymous (oe): 0.80 ? (gnomAD)
Ensembl transcript ID ENST00000472832.3
Genbank transcript ID
UniProt / AlphaMissense peptide N/A
Variant type Single base exchange
Gene region CDS
DNA changes c.522T>A
g.89510T>A
AA changes Y174* Score: 6.0?
Frameshift No
Length of protein NMD
Pathogenic variant (ClinVar)
Hereditary cancer-predisposing syndromepathogenicClinVar
Variant DBs
Not in dbSNP
Allele 'A' was not found in gnomAD
Protein conservation
SpeciesMatchGeneAAAlignment
Human      174KKGVTIPSQRRYVYYYSYLLKNHL
mutated  no alignment    n/a
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
PhyloPPhastCons
(flanking)8.821
2.4381
(flanking)9.4651
?
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 10
Strand 1
Original gDNA sequence snippet ATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCT
Altered gDNA sequence snippet ATTCCCAGTCAGAGGCGCTAAGTGTATTATTATAGCTACCT
Original cDNA sequence snippet ATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCT
Altered cDNA sequence snippet ATTCCCAGTCAGAGGCGCTAAGTGTATTATTATAGCTACCT
Wildtype AA sequence MTAIIKEIVS RNKRRYQEDG FDLDLTYIYP NIIAMGFPAE RLEGVYRNNI DDVVRFLDSK
HKNHYKIYNL CAERHYDTAK FNCRVAQYPF EDHNPPQLEL IKPFCEDLDQ WLSEDDNHVA
AIHCKAGKGR TGVMICAYLL HRGKFLKAQE ALDFYGEVRT RDKKGVTIPS QRRYVYYYSY
LLKNHLDYRP VALLFHKMMF ETIPMFSGGT CNPQFVVCQL KVKIYSSNSG PTRREDKFMY
FEFPQPLPVC GDIKVEFFHK QNKMLKKDKM FHFWVNTFFI PGPEETSEKV ENGSLCDQEI
DSICSIERAD NDKEYLVLTL TKNDLDKANK DKANRYFSPN FKVS*
Mutated AA sequence MTAIIKEIVS RNKRRYQEDG FDLDLTYIYP NIIAMGFPAE RLEGVYRNNI DDVVRFLDSK
HKNHYKIYNL CAERHYDTAK FNCRVAQYPF EDHNPPQLEL IKPFCEDLDQ WLSEDDNHVA
AIHCKAGKGR TGVMICAYLL HRGKFLKAQE ALDFYGEVRT RDKKGVTIPS QRR*
Position of stopcodon in wt / mu CDS 1035 / 522
Position (AA) of stopcodon in wt / mu AA sequence 345 / 174
Position of stopcodon in wt / mu cDNA 1176 / 663
Position of start ATG in wt / mu cDNA 142 / 142
Last intron/exon boundary 942
Theoretical NMD boundary in CDS 750
Length of CDS 1035
Coding sequence (CDS) position 522
cDNA position 663
gDNA position 89510
Chromosomal position 87952147
Speed 0.05 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table
Yum, tasty mutations...

MutationT@ster 2025

Variant:

10:87952147T>A_3_ENST00000371953

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

  • Model: complex_aae
  • Tree vote: 10|0 (del | benign) ?
  • Automatic classification due to ClinVar
Analysed issue Analysis result
Variant Chr10:87952147T>A (GRCh38)
Gene symbol PTEN
Gene constraints LOEUF: 0.68, LOF (oe): 0.46, misssense (oe): 0.46, synonymous (oe): 0.80 ? (gnomAD)
Ensembl transcript ID ENST00000371953.8
Genbank transcript ID NM_000314 (exact from MANE)
UniProt / AlphaMissense peptide PTEN_HUMAN | AlphaMissense: transcript, gene
Variant type Single base exchange
Gene region CDS
DNA changes c.522T>A
g.89510T>A
AA changes Y174* Score: 6.0?
Frameshift No
Length of protein NMD
Pathogenic variant (ClinVar)
Hereditary cancer-predisposing syndromepathogenicClinVar
Variant DBs
Not in dbSNP
Allele 'A' was not found in gnomAD
Protein conservation
SpeciesMatchGeneAAAlignment
Human      174KKGVTIPSQRRYVYYYSYLLKNHLDYRPVALLFHKMMFETIPMFSGGTCNPQFVVCQLKVKIYSSNSGPTRREDKFMYFEFPQPLPVCGD
mutated  no alignment    n/a
Ptroglodytes  all identical    174KKGVTIPSQRRYVYYYSYLLKNHLDYRPVALLFHKMMFETIPMFSGGTCNPQFVVCQLKVKIYSSNSGPTRREDKFMY
Mmulatta  no homologue    
Fcatus  all identical    174KKGVTIPSQRRYVYYYSYLLKNHLDYRPVALLFHKMMFETIPMFSGGTCNPQFVVCQLKVKIYSSNSGPTRREDKFMY
Mmusculus  no homologue    
Ggallus  partly conserved    174KKGVTIPSQRRYVYYYSYLLKNHLDYRPVALLFHKMMFETIPMFSGGTCNPQFVVYQLKVKIFTSPSGPSRREDKYMY
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  partly conserved    182RKGVTIPSQRRYVQYFSKLVCSSVPYSKVSLNVCEIRFSE----SSCVQNLGMVECSISVLHDSATENAKPDRLKTL
Celegans  no homologue    
Xtropicalis  partly conserved    173KKGVTIPSQRRYVYYYSYLLKNNLEYRPVPLLFHKIEFETIPMFSGSTCNPQFVVYQLKVKIFTSTAGP-KRIEKLMY
Protein features
Start (aa)End (aa)FeatureDetails 
2403CHAINlost
14185DOMAINPhosphatase tensin-typelost
169184HELIXlost
190350DOMAINC2 tensin-typelost
192202STRANDlost
206209STRANDlost
213219STRANDlost
222226STRANDlost
232235STRANDlost
238259STRANDlost
262264STRANDlost
268276STRANDlost
277279HELIXlost
280284STRANDlost
289289CROSSLNKGlycyl lysine isopeptide (Lys-Gly) lost
294294MOD_RESPhosphoserinelost
310312STRANDlost
315321STRANDlost
319319MOD_RESPhosphothreoninelost
321321MOD_RESPhosphothreoninelost
322324HELIXlost
328330HELIXlost
335337STRANDlost
336336MOD_RESPhosphotyrosinelost
338348REGIONRequiredlost
342349STRANDlost
352403REGIONlost
353370COMPBIASPolar residueslost
366366MOD_RESPhosphothreoninelost
370370MOD_RESPhosphoserinelost
371385COMPBIASBasic and acidic residueslost
380380MOD_RESPhosphoserinelost
382382MOD_RESPhosphothreoninelost
383383MOD_RESPhosphothreoninelost
385385MOD_RESPhosphoserinelost
395403STRANDlost
401401MOD_RESPhosphothreoninelost
401403MOTIFPDZ domain-bindinglost
Phylogenetic conservation
PhyloPPhastCons
(flanking)8.821
2.4381
(flanking)9.4651
?
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 10
Strand 1
Original gDNA sequence snippet ATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCT
Altered gDNA sequence snippet ATTCCCAGTCAGAGGCGCTAAGTGTATTATTATAGCTACCT
Original cDNA sequence snippet ATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCT
Altered cDNA sequence snippet ATTCCCAGTCAGAGGCGCTAAGTGTATTATTATAGCTACCT
Wildtype AA sequence MTAIIKEIVS RNKRRYQEDG FDLDLTYIYP NIIAMGFPAE RLEGVYRNNI DDVVRFLDSK
HKNHYKIYNL CAERHYDTAK FNCRVAQYPF EDHNPPQLEL IKPFCEDLDQ WLSEDDNHVA
AIHCKAGKGR TGVMICAYLL HRGKFLKAQE ALDFYGEVRT RDKKGVTIPS QRRYVYYYSY
LLKNHLDYRP VALLFHKMMF ETIPMFSGGT CNPQFVVCQL KVKIYSSNSG PTRREDKFMY
FEFPQPLPVC GDIKVEFFHK QNKMLKKDKM FHFWVNTFFI PGPEETSEKV ENGSLCDQEI
DSICSIERAD NDKEYLVLTL TKNDLDKANK DKANRYFSPN FKVKLYFTKT VEEPSNPEAS
SSTSVTPDVS DNEPDHYRYS DTTDSDPENE PFDEDQHTQI TKV*
Mutated AA sequence MTAIIKEIVS RNKRRYQEDG FDLDLTYIYP NIIAMGFPAE RLEGVYRNNI DDVVRFLDSK
HKNHYKIYNL CAERHYDTAK FNCRVAQYPF EDHNPPQLEL IKPFCEDLDQ WLSEDDNHVA
AIHCKAGKGR TGVMICAYLL HRGKFLKAQE ALDFYGEVRT RDKKGVTIPS QRR*
Position of stopcodon in wt / mu CDS 1212 / 522
Position (AA) of stopcodon in wt / mu AA sequence 404 / 174
Position of stopcodon in wt / mu cDNA 2057 / 1367
Position of start ATG in wt / mu cDNA 846 / 846
Last intron/exon boundary 1871
Theoretical NMD boundary in CDS 975
Length of CDS 1212
Coding sequence (CDS) position 522
cDNA position 1367
gDNA position 89510
Chromosomal position 87952147
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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