MutationT@ster 2025

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Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000673673
Querying Taster for transcript #2: ENST00000413740
Querying Taster for transcript #3: ENST00000616768
Querying Taster for transcript #4: ENST00000673899
Querying Taster for transcript #5: ENST00000713802
Querying Taster for transcript #6: ENST00000673715
Querying Taster for transcript #7: ENST00000231790
Querying Taster for transcript #8: ENST00000456676
Querying Taster for transcript #9: ENST00000450420
Querying Taster for transcript #10: ENST00000536378
MT speed 0.14 s - this script 2.506478 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length
ENST00000536378	MLH1	Deleterious	99\|1	5utr	No	Single base exchange	N/A
ENST00000231790(MANE Select)	MLH1	Deleterious	103\|97	without_aae	No	Single base exchange	Normal
ENST00000450420	MLH1	Deleterious	115\|85	without_aae	No	Single base exchange	Normal
ENST00000673673	MLH1	Deleterious	129\|71	without_aae	No	Single base exchange	Normal
ENST00000673899	MLH1	Deleterious	157\|43	without_aae	No	Single base exchange	Normal
ENST00000713802	MLH1	Deleterious	169\|31	without_aae	No	Single base exchange	Normal
ENST00000616768	MLH1	Benign	75\|125	without_aae	No	Single base exchange	Normal
ENST00000456676	MLH1	Benign	81\|119	without_aae	No	Single base exchange	Normal
ENST00000673715	MLH1	Benign	89\|111	without_aae	No	Single base exchange	Normal

Some transcripts had annotation problems and are not shown

MutationT@ster 2025

Variant:

3:36993571T>A_10_ENST00000536378

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: 5utr
Tree vote: 99|1 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr3:36993571T>A (GRCh38)

Gene symbol

MLH1

Gene constraints

LOEUF: 0.68, LOF (oe): 0.48, misssense (oe): 0.87, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000536378.5

Genbank transcript ID

NM_001354617 (by similarity), NM_001258273 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

5'UTR

DNA changes

cDNA.222T>A
g.346T>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	rs748406142
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	29	29

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.624	1
	0.127	0.965
(flanking)	4.515	1

?

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

N/A

Chromosome

3

Strand

1

Original gDNA sequence snippet

TCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGT

Altered gDNA sequence snippet

TCGTTCGTGGCAGGGGTTATACGGCGGCTGGACGAGACAGT

Original cDNA sequence snippet

TCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGT

Altered cDNA sequence snippet

TCGTTCGTGGCAGGGGTTATACGGCGGCTGGACGAGACAGT

Wildtype AA sequence

MNGYISNANY SVKKCIFLLF INHRLVESTS LRKAIETVYA AYLPKNTHPF LYLSLEISPQ
NVDVNVHPTK HEVHFLHEES ILERVQQHIE SKLLGSNSSR MYFTQTLLPG LAGPSGEMVK
STTSLTSSST SGSSDKVYAH QMVRTDSREQ KLDAFLQPLS KPLSSQPQAI VTEDKTDISS
GRARQQDEEM LELPAPAEVA AKNQSLEGDT TKGTSEMSEK RGPTSSNPRK RHREDSDVEM
VEDDSRKEMT AACTPRRRII NLTSVLSLQE EINEQGHEVL REMLHNHSFV GCVNPQWALA
QHQTKLYLLN TTKLSEELFY QILIYDFANF GVLRLSEPAP LFDLAMLALD SPESGWTEED
GPKEGLAEYI VEFLKKKAEM LADYFSLEID EEGNLIGLPL LIDNYVPPLE GLPIFILRLA
TEVNWDEEKE CFESLSKECA MFYSIRKQYI SEESTLSGQQ SEVPGSIPNS WKWTVEHIVY
KALRSHILPP KHFTEDGNIL QLANLPDLYK VFERC*

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

831 / 831

Last intron/exon boundary

2210

Theoretical NMD boundary in CDS

1329

Length of CDS

1548

Coding sequence (CDS) position

N/A

cDNA position

222

gDNA position

346

Chromosomal position

36993571

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:

3:36993571T>A_7_ENST00000231790

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 103|97 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr3:36993571T>A (GRCh38)

Gene symbol

MLH1

Gene constraints

LOEUF: 0.64, LOF (oe): 0.48, misssense (oe): 0.90, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000231790.8

Genbank transcript ID

NM_000249 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.24T>A
g.346T>A

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs748406142
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	29	29

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.624	1
	0.127	0.965
(flanking)	4.515	1

?

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

No

Chromosome

3

Strand

1

Original gDNA sequence snippet

TCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGT

Altered gDNA sequence snippet

TCGTTCGTGGCAGGGGTTATACGGCGGCTGGACGAGACAGT

Original cDNA sequence snippet

TCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGT

Altered cDNA sequence snippet

TCGTTCGTGGCAGGGGTTATACGGCGGCTGGACGAGACAGT

Wildtype AA sequence

MSFVAGVIRR LDETVVNRIA AGEVIQRPAN AIKEMIENCL DAKSTSIQVI VKEGGLKLIQ
IQDNGTGIRK EDLDIVCERF TTSKLQSFED LASISTYGFR GEALASISHV AHVTITTKTA
DGKCAYRASY SDGKLKAPPK PCAGNQGTQI TVEDLFYNIA TRRKALKNPS EEYGKILEVV
GRYSVHNAGI SFSVKKQGET VADVRTLPNA STVDNIRSIF GNAVSRELIE IGCEDKTLAF
KMNGYISNAN YSVKKCIFLL FINHRLVEST SLRKAIETVY AAYLPKNTHP FLYLSLEISP
QNVDVNVHPT KHEVHFLHEE SILERVQQHI ESKLLGSNSS RMYFTQTLLP GLAGPSGEMV
KSTTSLTSSS TSGSSDKVYA HQMVRTDSRE QKLDAFLQPL SKPLSSQPQA IVTEDKTDIS
SGRARQQDEE MLELPAPAEV AAKNQSLEGD TTKGTSEMSE KRGPTSSNPR KRHREDSDVE
MVEDDSRKEM TAACTPRRRI INLTSVLSLQ EEINEQGHEV LREMLHNHSF VGCVNPQWAL
AQHQTKLYLL NTTKLSEELF YQILIYDFAN FGVLRLSEPA PLFDLAMLAL DSPESGWTEE
DGPKEGLAEY IVEFLKKKAE MLADYFSLEI DEEGNLIGLP LLIDNYVPPL EGLPIFILRL
ATEVNWDEEK ECFESLSKEC AMFYSIRKQY ISEESTLSGQ QSEVPGSIPN SWKWTVEHIV
YKALRSHILP PKHFTEDGNI LQLANLPDLY KVFERC*

Mutated AA sequence

MSFVAGVIRR LDETVVNRIA AGEVIQRPAN AIKEMIENCL DAKSTSIQVI VKEGGLKLIQ
IQDNGTGIRK EDLDIVCERF TTSKLQSFED LASISTYGFR GEALASISHV AHVTITTKTA
DGKCAYRASY SDGKLKAPPK PCAGNQGTQI TVEDLFYNIA TRRKALKNPS EEYGKILEVV
GRYSVHNAGI SFSVKKQGET VADVRTLPNA STVDNIRSIF GNAVSRELIE IGCEDKTLAF
KMNGYISNAN YSVKKCIFLL FINHRLVEST SLRKAIETVY AAYLPKNTHP FLYLSLEISP
QNVDVNVHPT KHEVHFLHEE SILERVQQHI ESKLLGSNSS RMYFTQTLLP GLAGPSGEMV
KSTTSLTSSS TSGSSDKVYA HQMVRTDSRE QKLDAFLQPL SKPLSSQPQA IVTEDKTDIS
SGRARQQDEE MLELPAPAEV AAKNQSLEGD TTKGTSEMSE KRGPTSSNPR KRHREDSDVE
MVEDDSRKEM TAACTPRRRI INLTSVLSLQ EEINEQGHEV LREMLHNHSF VGCVNPQWAL
AQHQTKLYLL NTTKLSEELF YQILIYDFAN FGVLRLSEPA PLFDLAMLAL DSPESGWTEE
DGPKEGLAEY IVEFLKKKAE MLADYFSLEI DEEGNLIGLP LLIDNYVPPL EGLPIFILRL
ATEVNWDEEK ECFESLSKEC AMFYSIRKQY ISEESTLSGQ QSEVPGSIPN SWKWTVEHIV
YKALRSHILP PKHFTEDGNI LQLANLPDLY KVFERC*

Position of stopcodon in wt / mu CDS

2271 / 2271

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

757 / 757

Position of stopcodon in wt / mu cDNA

2301 / 2301

Position of start ATG in wt / mu cDNA

31 / 31

Last intron/exon boundary

2133

Theoretical NMD boundary in CDS

2052

Length of CDS

2271

Coding sequence (CDS) position

24

cDNA position

54

gDNA position

346

Chromosomal position

36993571

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:

3:36993571T>A_9_ENST00000450420

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 115|85 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr3:36993571T>A (GRCh38)

Gene symbol

MLH1

Gene constraints

LOEUF: 1.25, LOF (oe): 0.64, misssense (oe): 0.84, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000450420.6

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.24T>A
g.346T>A

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs748406142
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	29	29

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.624	1
	0.127	0.965
(flanking)	4.515	1

?

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

No

Chromosome

3

Strand

1

Original gDNA sequence snippet

TCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGT

Altered gDNA sequence snippet

TCGTTCGTGGCAGGGGTTATACGGCGGCTGGACGAGACAGT

Original cDNA sequence snippet

TCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGT

Altered cDNA sequence snippet

TCGTTCGTGGCAGGGGTTATACGGCGGCTGGACGAGACAGT

Wildtype AA sequence

MSFVAGVIRR LDETVVNRIA AGEVIQRPAN AIKEMIENCL DAKSTSIQVI VKEGGLKLIQ
IQDNGTGIRK EDLDIVCERF TTSKLQSFED LASISTYGFR GEALASISHV AHVTITTKTA
DGKCAYRASY SDGKLKAPPK PCAGNQGTQI TVEDLFYNIA TRRKALKNPS EEYGKILEVV
GRYSVHNAGI SFSVKKQGET VADVRTLPNA STVDNIRSIF GNAVSRELIE IGCEDKTLAF
KMNGYISNAN YSVKKCIFLL FINHRLVEST SLRKAIETVY AAYLPKNTHP FLYLSLEISP
QNVDVNVHPT KHEVHFLHEE SILERVQQHI ESKLLGSNSS RMYFTQTLLP GLAGPSGEMV
KSTTSLTSSS TSGSSDKVYA HQMVRTDSRE QKLDAFLQPL SKPLSSQPQA IVTEDKTDIS
SGRARQQDEE MLELPAPAEV AAKNQSLEGD TTKGTSEMSE KRGPTSSNPR KRHREDSDVE
MVEDDSRKEM TAACTPRRRI INLTSVLSLQ EEINEQGHEE *

Mutated AA sequence

MSFVAGVIRR LDETVVNRIA AGEVIQRPAN AIKEMIENCL DAKSTSIQVI VKEGGLKLIQ
IQDNGTGIRK EDLDIVCERF TTSKLQSFED LASISTYGFR GEALASISHV AHVTITTKTA
DGKCAYRASY SDGKLKAPPK PCAGNQGTQI TVEDLFYNIA TRRKALKNPS EEYGKILEVV
GRYSVHNAGI SFSVKKQGET VADVRTLPNA STVDNIRSIF GNAVSRELIE IGCEDKTLAF
KMNGYISNAN YSVKKCIFLL FINHRLVEST SLRKAIETVY AAYLPKNTHP FLYLSLEISP
QNVDVNVHPT KHEVHFLHEE SILERVQQHI ESKLLGSNSS RMYFTQTLLP GLAGPSGEMV
KSTTSLTSSS TSGSSDKVYA HQMVRTDSRE QKLDAFLQPL SKPLSSQPQA IVTEDKTDIS
SGRARQQDEE MLELPAPAEV AAKNQSLEGD TTKGTSEMSE KRGPTSSNPR KRHREDSDVE
MVEDDSRKEM TAACTPRRRI INLTSVLSLQ EEINEQGHEE *

Position of stopcodon in wt / mu CDS

1563 / 1563

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

521 / 521

Position of stopcodon in wt / mu cDNA

1593 / 1593

Position of start ATG in wt / mu cDNA

31 / 31

Last intron/exon boundary

1588

Theoretical NMD boundary in CDS

1507

Length of CDS

1563

Coding sequence (CDS) position

24

cDNA position

54

gDNA position

346

Chromosomal position

36993571

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:

3:36993571T>A_1_ENST00000673673

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 129|71 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr3:36993571T>A (GRCh38)

Gene symbol

MLH1

Gene constraints

LOEUF: 0.67, LOF (oe): 0.50, misssense (oe): 0.86, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000673673.2

Genbank transcript ID

NM_001354630 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.24T>A
g.346T>A

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs748406142
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	29	29

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.624	1
	0.127	0.965
(flanking)	4.515	1

?

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

No

Chromosome

3

Strand

1

Original gDNA sequence snippet

TCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGT

Altered gDNA sequence snippet

TCGTTCGTGGCAGGGGTTATACGGCGGCTGGACGAGACAGT

Original cDNA sequence snippet

TCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGT

Altered cDNA sequence snippet

TCGTTCGTGGCAGGGGTTATACGGCGGCTGGACGAGACAGT

Wildtype AA sequence

MSFVAGVIRR LDETVVNRIA AGEVIQRPAN AIKEMIENCL DAKSTSIQVI VKEGGLKLIQ
IQDNGTGIRK EDLDIVCERF TTSKLQSFED LASISTYGFR GEALASISHV AHVTITTKTA
DGKCAYRASY SDGKLKAPPK PCAGNQGTQI TVEDLFYNIA TRRKALKNPS EEYGKILEVV
GRYSVHNAGI SFSVKKQGET VADVRTLPNA STVDNIRSIF GNAVSRELIE IGCEDKTLAF
KMNGYISNAN YSVKKCIFLL FINHRLVEST SLRKAIETVY AAYLPKNTHP FLYLSLEISP
QNVDVNVHPT KHEVHFLHEE SILERVQQHI ESKLLGSNSS RMYFTQTLLP GLAGPSGEMV
KSTTSLTSSS TSGSSDKVYA HQMVRTDSRE QKLDAFLQPL SKPLSSQPQA IVTEDKTDIS
SGRARQQDEE MLELPAPAEV AAKNQSLEGD TTKGTSEMSE KRGPTSSNPR KRHREDSDVE
MVEDDSRKEM TAACTPRRRI INLTSVLSLQ EEINEQGHEV LREMLHNHSF VGCVNPQWAL
AQHQTKLYLL NTTKLSEELF YQILIYDFAN FGVLRLSEGN LIGLPLLIDN YVPPLEGLPI
FILRLATEVN WDEEKECFES LSKECAMFYS IRKQYISEES TLSGQQSEVP GSIPNSWKWT
VEHIVYKALR SHILPPKHFT EDGNILQLAN LPDLYKVFER C*

Mutated AA sequence

MSFVAGVIRR LDETVVNRIA AGEVIQRPAN AIKEMIENCL DAKSTSIQVI VKEGGLKLIQ
IQDNGTGIRK EDLDIVCERF TTSKLQSFED LASISTYGFR GEALASISHV AHVTITTKTA
DGKCAYRASY SDGKLKAPPK PCAGNQGTQI TVEDLFYNIA TRRKALKNPS EEYGKILEVV
GRYSVHNAGI SFSVKKQGET VADVRTLPNA STVDNIRSIF GNAVSRELIE IGCEDKTLAF
KMNGYISNAN YSVKKCIFLL FINHRLVEST SLRKAIETVY AAYLPKNTHP FLYLSLEISP
QNVDVNVHPT KHEVHFLHEE SILERVQQHI ESKLLGSNSS RMYFTQTLLP GLAGPSGEMV
KSTTSLTSSS TSGSSDKVYA HQMVRTDSRE QKLDAFLQPL SKPLSSQPQA IVTEDKTDIS
SGRARQQDEE MLELPAPAEV AAKNQSLEGD TTKGTSEMSE KRGPTSSNPR KRHREDSDVE
MVEDDSRKEM TAACTPRRRI INLTSVLSLQ EEINEQGHEV LREMLHNHSF VGCVNPQWAL
AQHQTKLYLL NTTKLSEELF YQILIYDFAN FGVLRLSEGN LIGLPLLIDN YVPPLEGLPI
FILRLATEVN WDEEKECFES LSKECAMFYS IRKQYISEES TLSGQQSEVP GSIPNSWKWT
VEHIVYKALR SHILPPKHFT EDGNILQLAN LPDLYKVFER C*

Position of stopcodon in wt / mu CDS

2106 / 2106

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

702 / 702

Position of stopcodon in wt / mu cDNA

2428 / 2428

Position of start ATG in wt / mu cDNA

323 / 323

Last intron/exon boundary

2260

Theoretical NMD boundary in CDS

1887

Length of CDS

2106

Coding sequence (CDS) position

24

cDNA position

346

gDNA position

346

Chromosomal position

36993571

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:

3:36993571T>A_4_ENST00000673899

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 157|43 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr3:36993571T>A (GRCh38)

Gene symbol

MLH1

Gene constraints

LOEUF: 0.72, LOF (oe): 0.53, misssense (oe): 0.89, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000673899.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.24T>A
g.346T>A

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs748406142
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	29	29

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.624	1
	0.127	0.965
(flanking)	4.515	1

?

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

No

Chromosome

3

Strand

1

Original gDNA sequence snippet

TCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGT

Altered gDNA sequence snippet

TCGTTCGTGGCAGGGGTTATACGGCGGCTGGACGAGACAGT

Original cDNA sequence snippet

TCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGT

Altered cDNA sequence snippet

TCGTTCGTGGCAGGGGTTATACGGCGGCTGGACGAGACAGT

Wildtype AA sequence

MSFVAGVIRR LDETVVNRIA AGEVIQRPAN AIKEMIENCL DAKSTSIQVI VKEGGLKLIQ
IQDNGTGIRK EDLDIVCERF TTSKLQSFED LASISTYGFR GEALASISHV AHVTITTKTA
DGKCAYRASY SDGKLKAPPK PCAGNQGTQI TVEDLFYNIA TRRKALKNPS EEYGKILEVV
GRYSVHNAGI SFSVKKQGET VADVRTLPNA STVDNIRSIF GNAVSRKRHR EDSDVEMVED
DSRKEMTAAC TPRRRIINLT SVLSLQEEIN EQGHEVLREM LHNHSFVGCV NPQWALAQHQ
TKLYLLNTTK LSEELFYQIL IYDFANFGVL RLSEPAPLFD LAMLALDSPE SGWTEEDGPK
EGLAEYIVEF LKKKAEMLAD YFSLEIDEEG NLIGLPLLID NYVPPLEGLP IFILRLATEV
NWDEEKECFE SLSKECAMFY SIRKQYISEE STLSGQQSEV PGSIPNSWKW TVEHIVYKAL
RSHILPPKHF TEDGNILQLA NLPDLYKVFE RC*

Mutated AA sequence

MSFVAGVIRR LDETVVNRIA AGEVIQRPAN AIKEMIENCL DAKSTSIQVI VKEGGLKLIQ
IQDNGTGIRK EDLDIVCERF TTSKLQSFED LASISTYGFR GEALASISHV AHVTITTKTA
DGKCAYRASY SDGKLKAPPK PCAGNQGTQI TVEDLFYNIA TRRKALKNPS EEYGKILEVV
GRYSVHNAGI SFSVKKQGET VADVRTLPNA STVDNIRSIF GNAVSRKRHR EDSDVEMVED
DSRKEMTAAC TPRRRIINLT SVLSLQEEIN EQGHEVLREM LHNHSFVGCV NPQWALAQHQ
TKLYLLNTTK LSEELFYQIL IYDFANFGVL RLSEPAPLFD LAMLALDSPE SGWTEEDGPK
EGLAEYIVEF LKKKAEMLAD YFSLEIDEEG NLIGLPLLID NYVPPLEGLP IFILRLATEV
NWDEEKECFE SLSKECAMFY SIRKQYISEE STLSGQQSEV PGSIPNSWKW TVEHIVYKAL
RSHILPPKHF TEDGNILQLA NLPDLYKVFE RC*

Position of stopcodon in wt / mu CDS

1539 / 1539

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

513 / 513

Position of stopcodon in wt / mu cDNA

1598 / 1598

Position of start ATG in wt / mu cDNA

60 / 60

Last intron/exon boundary

1430

Theoretical NMD boundary in CDS

1320

Length of CDS

1539

Coding sequence (CDS) position

24

cDNA position

83

gDNA position

346

Chromosomal position

36993571

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

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MutationT@ster 2025

Variant:

3:36993571T>A_5_ENST00000713802

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Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 169|31 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr3:36993571T>A (GRCh38)

Gene symbol

MLH1

Gene constraints

no data

Ensembl transcript ID

ENST00000713802.1

Genbank transcript ID

NM_001354629 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.24T>A
g.346T>A

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs748406142
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	29	29

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.624	1
	0.127	0.965
(flanking)	4.515	1

?

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

No

Chromosome

3

Strand

1

Original gDNA sequence snippet

TCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGT

Altered gDNA sequence snippet

TCGTTCGTGGCAGGGGTTATACGGCGGCTGGACGAGACAGT

Original cDNA sequence snippet

TCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGT

Altered cDNA sequence snippet

TCGTTCGTGGCAGGGGTTATACGGCGGCTGGACGAGACAGT

Wildtype AA sequence

MSFVAGVIRR LDETVVNRIA AGEVIQRPAN AIKEMIENCL DAKSTSIQVI VKEGGLKLIQ
IQDNGTGIRA LASISHVAHV TITTKTADGK CAYRASYSDG KLKAPPKPCA GNQGTQITVE
DLFYNIATRR KALKNPSEEY GKILEVVGRY SVHNAGISFS VKKQGETVAD VRTLPNASTV
DNIRSIFGNA VSRELIEIGC EDKTLAFKMN GYISNANYSV KKCIFLLFIN HRLVESTSLR
KAIETVYAAY LPKNTHPFLY LSLEISPQNV DVNVHPTKHE VHFLHEESIL ERVQQHIESK
LLGSNSSRMY FTQTLLPGLA GPSGEMVKST TSLTSSSTSG SSDKVYAHQM VRTDSREQKL
DAFLQPLSKP LSSQPQAIVT EDKTDISSGR ARQQDEEMLE LPAPAEVAAK NQSLEGDTTK
GTSEMSEKRG PTSSNPRKRH REDSDVEMVE DDSRKEMTAA CTPRRRIINL TSVLSLQEEI
NEQGHEVLRE MLHNHSFVGC VNPQWALAQH QTKLYLLNTT KLSEELFYQI LIYDFANFGV
LRLSEPAPLF DLAMLALDSP ESGWTEEDGP KEGLAEYIVE FLKKKAEMLA DYFSLEIDEE
GNLIGLPLLI DNYVPPLEGL PIFILRLATE VNWDEEKECF ESLSKECAMF YSIRKQYISE
ESTLSGQQSE VPGSIPNSWK WTVEHIVYKA LRSHILPPKH FTEDGNILQL ANLPDLYKVF
ERC*

Mutated AA sequence

MSFVAGVIRR LDETVVNRIA AGEVIQRPAN AIKEMIENCL DAKSTSIQVI VKEGGLKLIQ
IQDNGTGIRA LASISHVAHV TITTKTADGK CAYRASYSDG KLKAPPKPCA GNQGTQITVE
DLFYNIATRR KALKNPSEEY GKILEVVGRY SVHNAGISFS VKKQGETVAD VRTLPNASTV
DNIRSIFGNA VSRELIEIGC EDKTLAFKMN GYISNANYSV KKCIFLLFIN HRLVESTSLR
KAIETVYAAY LPKNTHPFLY LSLEISPQNV DVNVHPTKHE VHFLHEESIL ERVQQHIESK
LLGSNSSRMY FTQTLLPGLA GPSGEMVKST TSLTSSSTSG SSDKVYAHQM VRTDSREQKL
DAFLQPLSKP LSSQPQAIVT EDKTDISSGR ARQQDEEMLE LPAPAEVAAK NQSLEGDTTK
GTSEMSEKRG PTSSNPRKRH REDSDVEMVE DDSRKEMTAA CTPRRRIINL TSVLSLQEEI
NEQGHEVLRE MLHNHSFVGC VNPQWALAQH QTKLYLLNTT KLSEELFYQI LIYDFANFGV
LRLSEPAPLF DLAMLALDSP ESGWTEEDGP KEGLAEYIVE FLKKKAEMLA DYFSLEIDEE
GNLIGLPLLI DNYVPPLEGL PIFILRLATE VNWDEEKECF ESLSKECAMF YSIRKQYISE
ESTLSGQQSE VPGSIPNSWK WTVEHIVYKA LRSHILPPKH FTEDGNILQL ANLPDLYKVF
ERC*

Position of stopcodon in wt / mu CDS

2172 / 2172

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

724 / 724

Position of stopcodon in wt / mu cDNA

2178 / 2178

Position of start ATG in wt / mu cDNA

7 / 7

Last intron/exon boundary

2010

Theoretical NMD boundary in CDS

1953

Length of CDS

2172

Coding sequence (CDS) position

24

cDNA position

30

gDNA position

346

Chromosomal position

36993571

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

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MutationT@ster 2025

Variant:

3:36993571T>A_3_ENST00000616768

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Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 75|125 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr3:36993571T>A (GRCh38)

Gene symbol

MLH1

Gene constraints

LOEUF: 0.60, LOF (oe): 0.39, misssense (oe): 0.87, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000616768.6

Genbank transcript ID

NM_001354628 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.24T>A
g.346T>A

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs748406142
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	29	29

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.624	1
	0.127	0.965
(flanking)	4.515	1

?

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

No

Chromosome

3

Strand

1

Original gDNA sequence snippet

TCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGT

Altered gDNA sequence snippet

TCGTTCGTGGCAGGGGTTATACGGCGGCTGGACGAGACAGT

Original cDNA sequence snippet

TCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGT

Altered cDNA sequence snippet

TCGTTCGTGGCAGGGGTTATACGGCGGCTGGACGAGACAGT

Wildtype AA sequence

MSFVAGVIRR LDETVVNRIA AGEVIQRPAN AIKEMIENCL DAKSTSIQVI VKEGGLKLIQ
IQDNGTGIRK EDLDIVCERF TTSKLQSFED LASISTYGFR GEALASISHV AHVTITTKTA
DGKCAYRASY SDGKLKAPPK PCAGNQGTQI TVEDLFYNIA TRRKALKNPS EEYGKILEVV
GRYSVHNAGI SFSVKKQGET VADVRTLPNA STVDNIRSIF GNAVSRELIE IGCEDKTLAF
KMNGYISNAN YSVKKCIFLL FINHRLVEST SLRKAIETVY AAYLPKNTHP FLYLSLEISP
QNVDVNVHPT KHEVHFLHEE SILERVQQHI ESKLLGSNSS RMYFTQTLLP GLAGPSGEMV
KSTTSLTSSS TSGSSDKVYA HQMVRTDSRE QKLDAFLQPL SKPLSSQPQA IVTEDKTDIS
SGRARQQDEE MLELPAPAEV AAKNQSLEGD TTKGTSEMSE KRGPTSSNPR KRHREDSDVE
MVEDDSRKEM TAACTPRRRI INLTSVLSLQ EEINEQGHEV LREMLHNHSF VGCVNPQWAL
AQHQTKLYLL NTTKLSEELF YQILIYDFAN FGVLRLSEPA PLFDLAMLAL DSPESGWTEE
DGPKEGLAEY IVEFLKKKAE MLADYFSLEI DEVNWDEEKE CFESLSKECA MFYSIRKQYI
SEESTLSGQQ SEVPGSIPNS WKWTVEHIVY KALRSHILPP KHFTEDGNIL QLANLPDLYK
VFERC*

Mutated AA sequence

MSFVAGVIRR LDETVVNRIA AGEVIQRPAN AIKEMIENCL DAKSTSIQVI VKEGGLKLIQ
IQDNGTGIRK EDLDIVCERF TTSKLQSFED LASISTYGFR GEALASISHV AHVTITTKTA
DGKCAYRASY SDGKLKAPPK PCAGNQGTQI TVEDLFYNIA TRRKALKNPS EEYGKILEVV
GRYSVHNAGI SFSVKKQGET VADVRTLPNA STVDNIRSIF GNAVSRELIE IGCEDKTLAF
KMNGYISNAN YSVKKCIFLL FINHRLVEST SLRKAIETVY AAYLPKNTHP FLYLSLEISP
QNVDVNVHPT KHEVHFLHEE SILERVQQHI ESKLLGSNSS RMYFTQTLLP GLAGPSGEMV
KSTTSLTSSS TSGSSDKVYA HQMVRTDSRE QKLDAFLQPL SKPLSSQPQA IVTEDKTDIS
SGRARQQDEE MLELPAPAEV AAKNQSLEGD TTKGTSEMSE KRGPTSSNPR KRHREDSDVE
MVEDDSRKEM TAACTPRRRI INLTSVLSLQ EEINEQGHEV LREMLHNHSF VGCVNPQWAL
AQHQTKLYLL NTTKLSEELF YQILIYDFAN FGVLRLSEPA PLFDLAMLAL DSPESGWTEE
DGPKEGLAEY IVEFLKKKAE MLADYFSLEI DEVNWDEEKE CFESLSKECA MFYSIRKQYI
SEESTLSGQQ SEVPGSIPNS WKWTVEHIVY KALRSHILPP KHFTEDGNIL QLANLPDLYK
VFERC*

Position of stopcodon in wt / mu CDS

2178 / 2178

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

726 / 726

Position of stopcodon in wt / mu cDNA

2254 / 2254

Position of start ATG in wt / mu cDNA

77 / 77

Last intron/exon boundary

2086

Theoretical NMD boundary in CDS

1959

Length of CDS

2178

Coding sequence (CDS) position

24

cDNA position

100

gDNA position

346

Chromosomal position

36993571

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

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MutationT@ster 2025

Variant:

3:36993571T>A_8_ENST00000456676

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Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 81|119 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr3:36993571T>A (GRCh38)

Gene symbol

MLH1

Gene constraints

LOEUF: 0.60, LOF (oe): 0.43, misssense (oe): 0.90, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000456676.7

Genbank transcript ID

NM_001258271 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.24T>A
g.346T>A

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs748406142
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	29	29

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.624	1
	0.127	0.965
(flanking)	4.515	1

?

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

No

Chromosome

3

Strand

1

Original gDNA sequence snippet

TCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGT

Altered gDNA sequence snippet

TCGTTCGTGGCAGGGGTTATACGGCGGCTGGACGAGACAGT

Original cDNA sequence snippet

TCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGT

Altered cDNA sequence snippet

TCGTTCGTGGCAGGGGTTATACGGCGGCTGGACGAGACAGT

Wildtype AA sequence

MSFVAGVIRR LDETVVNRIA AGEVIQRPAN AIKEMIENCL DAKSTSIQVI VKEGGLKLIQ
IQDNGTGIRK EDLDIVCERF TTSKLQSFED LASISTYGFR GEALASISHV AHVTITTKTA
DGKCAYRASY SDGKLKAPPK PCAGNQGTQI TVEDLFYNIA TRRKALKNPS EEYGKILEVV
GRYSVHNAGI SFSVKKQGET VADVRTLPNA STVDNIRSIF GNAVSRELIE IGCEDKTLAF
KMNGYISNAN YSVKKCIFLL FINHRLVEST SLRKAIETVY AAYLPKNTHP FLYLSLEISP
QNVDVNVHPT KHEVHFLHEE SILERVQQHI ESKLLGSNSS RMYFTQTLLP GLAGPSGEMV
KSTTSLTSSS TSGSSDKVYA HQMVRTDSRE QKLDAFLQPL SKPLSSQPQA IVTEDKTDIS
SGRARQQDEE MLELPAPAEV AAKNQSLEGD TTKGTSEMSE KRGPTSSNPR KRHREDSDVE
MVEDDSRKEM TAACTPRRRI INLTSVLSLQ EEINEQGHEV LREMLHNHSF VGCVNPQWAL
AQHQTKLYLL NTTKLSEELF YQILIYDFAN FGVLRLSEPA PLFDLAMLAL DSPESGWTEE
DGPKEGLAEY IVEFLKKKAE MLADYFSLEI DESEVPGSIP NSWKWTVEHI VYKALRSHIL
PPKHFTEDGN ILQLANLPDL YKVFERC*

Mutated AA sequence

MSFVAGVIRR LDETVVNRIA AGEVIQRPAN AIKEMIENCL DAKSTSIQVI VKEGGLKLIQ
IQDNGTGIRK EDLDIVCERF TTSKLQSFED LASISTYGFR GEALASISHV AHVTITTKTA
DGKCAYRASY SDGKLKAPPK PCAGNQGTQI TVEDLFYNIA TRRKALKNPS EEYGKILEVV
GRYSVHNAGI SFSVKKQGET VADVRTLPNA STVDNIRSIF GNAVSRELIE IGCEDKTLAF
KMNGYISNAN YSVKKCIFLL FINHRLVEST SLRKAIETVY AAYLPKNTHP FLYLSLEISP
QNVDVNVHPT KHEVHFLHEE SILERVQQHI ESKLLGSNSS RMYFTQTLLP GLAGPSGEMV
KSTTSLTSSS TSGSSDKVYA HQMVRTDSRE QKLDAFLQPL SKPLSSQPQA IVTEDKTDIS
SGRARQQDEE MLELPAPAEV AAKNQSLEGD TTKGTSEMSE KRGPTSSNPR KRHREDSDVE
MVEDDSRKEM TAACTPRRRI INLTSVLSLQ EEINEQGHEV LREMLHNHSF VGCVNPQWAL
AQHQTKLYLL NTTKLSEELF YQILIYDFAN FGVLRLSEPA PLFDLAMLAL DSPESGWTEE
DGPKEGLAEY IVEFLKKKAE MLADYFSLEI DESEVPGSIP NSWKWTVEHI VYKALRSHIL
PPKHFTEDGN ILQLANLPDL YKVFERC*

Position of stopcodon in wt / mu CDS

2064 / 2064

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

688 / 688

Position of stopcodon in wt / mu cDNA

2094 / 2094

Position of start ATG in wt / mu cDNA

31 / 31

Last intron/exon boundary

1926

Theoretical NMD boundary in CDS

1845

Length of CDS

2064

Coding sequence (CDS) position

24

cDNA position

54

gDNA position

346

Chromosomal position

36993571

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

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MutationT@ster 2025

Variant:

3:36993571T>A_6_ENST00000673715

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Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 89|111 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr3:36993571T>A (GRCh38)

Gene symbol

MLH1

Gene constraints

LOEUF: 0.60, LOF (oe): 0.42, misssense (oe): 0.92, synonymous (oe): 1.00 ? (gnomAD)

Ensembl transcript ID

ENST00000673715.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.24T>A
g.346T>A

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs748406142
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	29	29

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.624	1
	0.127	0.965
(flanking)	4.515	1

?

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

No

Chromosome

3

Strand

1

Original gDNA sequence snippet

TCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGT

Altered gDNA sequence snippet

TCGTTCGTGGCAGGGGTTATACGGCGGCTGGACGAGACAGT

Original cDNA sequence snippet

TCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGT

Altered cDNA sequence snippet

TCGTTCGTGGCAGGGGTTATACGGCGGCTGGACGAGACAGT

Wildtype AA sequence

MSFVAGVIRR LDETVVNRIA AGEVIQRPAN AIKEMIENCL DAKSTSIQVI VKEGGLKLIQ
IQDNGTGIRK EDLDIVCERF TTSKLQSFED LASISTYGFR GEALASISHV AHVTITTKTA
DGKCAYRASY SDGKLKAPPK PCAGNQGTQI TVEDLFYNIA TRRKALKNPS EEYGKILEVV
GRYSVHNAGI SFSVKKQGET VADVRTLPNA STVDNIRSIF GNAVSRELIE IGCEDKTLAF
KMNGYISNAN YSVKKCIFLL FINHRLVEST SLRKAIETVY AAYLPKNTHP FLYLSLEISP
QNVDVNVHPT KHEVHFLHEE SILERVQQHI ESKLLGSNSS RMYFTQTLLP GLAGPSGEMV
KSTTSLTSSS TSGSSDKVYA HQMVRTDSRE QKLDAFLQPL SKPLSSQPQA IVTEDKTDIS
SGRARQQDEE MLELPAPAEV AAKNQSLEGD TTKGTSEMSE KRGPTSSNPR KRHREDSDVE
MVEDDSRKEM TAACTPRRRI INLTSVLSLQ EEINEQGHEV LREMLHNHSF VGCVNPQWAL
AQHQTKLYLL NTTKLSEELF YQILIYDFAN FGVLRLSEPA PLFDLAMLAL DSPESGWTEE
DGPKEGLAEY IVEFLKKKAE MLADYFSLEI DEV*

Mutated AA sequence

MSFVAGVIRR LDETVVNRIA AGEVIQRPAN AIKEMIENCL DAKSTSIQVI VKEGGLKLIQ
IQDNGTGIRK EDLDIVCERF TTSKLQSFED LASISTYGFR GEALASISHV AHVTITTKTA
DGKCAYRASY SDGKLKAPPK PCAGNQGTQI TVEDLFYNIA TRRKALKNPS EEYGKILEVV
GRYSVHNAGI SFSVKKQGET VADVRTLPNA STVDNIRSIF GNAVSRELIE IGCEDKTLAF
KMNGYISNAN YSVKKCIFLL FINHRLVEST SLRKAIETVY AAYLPKNTHP FLYLSLEISP
QNVDVNVHPT KHEVHFLHEE SILERVQQHI ESKLLGSNSS RMYFTQTLLP GLAGPSGEMV
KSTTSLTSSS TSGSSDKVYA HQMVRTDSRE QKLDAFLQPL SKPLSSQPQA IVTEDKTDIS
SGRARQQDEE MLELPAPAEV AAKNQSLEGD TTKGTSEMSE KRGPTSSNPR KRHREDSDVE
MVEDDSRKEM TAACTPRRRI INLTSVLSLQ EEINEQGHEV LREMLHNHSF VGCVNPQWAL
AQHQTKLYLL NTTKLSEELF YQILIYDFAN FGVLRLSEPA PLFDLAMLAL DSPESGWTEE
DGPKEGLAEY IVEFLKKKAE MLADYFSLEI DEV*

Position of stopcodon in wt / mu CDS

1902 / 1902

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

634 / 634

Position of stopcodon in wt / mu cDNA

1927 / 1927

Position of start ATG in wt / mu cDNA

26 / 26

Last intron/exon boundary

1756

Theoretical NMD boundary in CDS

1680

Length of CDS

1902

Coding sequence (CDS) position

24

cDNA position

49

gDNA position

346

Chromosomal position

36993571

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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Problem:

1

MutationT@ster 2025

annotation problem

The chosen transcript ENST00000413740 on chromosome 3 has no correct in-frame stop codon (TGA, TAA or TAG) annotated
This is likely to cause a false prediction. You should choose another transcript.

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