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: ENST00000585465
Querying Taster for transcript #2: ENST00000326873
Querying Taster for transcript #3: ENST00000714322
Querying Taster for transcript #4: ENST00000714323
Querying Taster for transcript #5: ENST00000652231
Querying Taster for transcript #6: ENST00000585851
MT speed 0.4 s - this script 2.77211 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000326873(MANE Select)	STK11	Deleterious	78\|22	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000714323	STK11	Deleterious	79\|21	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000585465	STK11	Deleterious	83\|17	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000652231	STK11	Deleterious	87\|13	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000585851	STK11	Deleterious	93\|7	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000714322	STK11	Deleterious	103\|97	without_aae	No	Single base exchange	N/A

MutationT@ster 2025

Variant:

19:1220389A>T_2_ENST00000326873

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 78|22 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:1220389A>T (GRCh38)

Gene symbol

STK11

Gene constraints

LOEUF: 0.36, LOF (oe): 0.20, misssense (oe): 0.83, synonymous (oe): 1.33 ? (gnomAD)

Ensembl transcript ID

ENST00000326873.12

Genbank transcript ID

NM_000455 (exact from MANE)

UniProt / AlphaMissense peptide

STK11_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.481A>T
g.42832A>T

AA changes

AAE:	I161F	?
Score:	21

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'T' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		161	V	C	Q	A	H	G	Y	F	C	Q	L	I	D	G	L	E	Y	L	H	S	Q	G	I	V
mutated	not conserved	161	V	C	Q	A	H	G	Y	F	C	Q	L	F	D	G	L	E	Y	L	H	S	Q	G	I
Ptroglodytes	all identical	35	V	C	Q	A	H	G	Y	F	C	Q	L	I	D	G	L	E	Y	L	H	S	Q	G	I
Mmulatta	all identical	161	V	C	Q	A	H	G	Y	F	C	Q	L	I	D	G	L	E	Y	L	H	S	Q	G	I
Fcatus	all conserved	161	V	C	Q	A	H	G	Y	F	C	Q	L	V	D	G	L	E	Y	L	H	S	Q	G	I
Mmusculus	all identical	161	V	C	Q	A	H	G	Y	F	R	Q	L	I	D	G	L	E	Y	L	H	S	Q	G	I
Ggallus	all identical	161	V	F	Q	A	H	G	Y	F	C	Q	L	I	D	G	L	E	Y	L	H	S	Q	G	I
Trubripes	all conserved	159	V	F	Q	A	H	G	Y	F	C	Q	L	L	D	G	L	E	Y	L	H	S	Q	G	I
Drerio	no homologue
Dmelanogaster	all conserved	284	L	F	Q	A	H	G	Y	F	K	Q	L	V	D	G	L	E	Y	L	H	S	C	R	V
Celegans	not conserved	295										E	L	C	Q	G	L	N	Y	L	H	S	K	R	V
Xtropicalis	all identical	161	V	F	Q	A	H	G	Y	F	C	Q	L	I	D	G	L	E	Y	L	H	S	Q	G	I

Protein features

Start (aa)	End (aa)	Feature	Details
1	430	CHAIN		lost
49	309	DOMAIN	Protein kinase	lost
150	169	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.353	0.16
	1.325	0.74
(flanking)	7.91	0.995

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

17

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

19

Strand

1

Original gDNA sequence snippet

GCAGGTACTTCTGTCAGCTGATTGACGGCCTGGAGTACCTG

Altered gDNA sequence snippet

GCAGGTACTTCTGTCAGCTGTTTGACGGCCTGGAGTACCTG

Original cDNA sequence snippet

ACGGGTACTTCTGTCAGCTGATTGACGGCCTGGAGTACCTG

Altered cDNA sequence snippet

ACGGGTACTTCTGTCAGCTGTTTGACGGCCTGGAGTACCTG

Wildtype AA sequence

MEVVDPQQLG MFTEGELMSV GMDTFIHRID STEVIYQPRR KRAKLIGKYL MGDLLGEGSY
GKVKEVLDSE TLCRRAVKIL KKKKLRRIPN GEANVKKEIQ LLRRLRHKNV IQLVDVLYNE
EKQKMYMVME YCVCGMQEML DSVPEKRFPV CQAHGYFCQL IDGLEYLHSQ GIVHKDIKPG
NLLLTTGGTL KISDLGVAEA LHPFAADDTC RTSQGSPAFQ PPEIANGLDT FSGFKVDIWS
AGVTLYNITT GLYPFEGDNI YKLFENIGKG SYAIPGDCGP PLSDLLKGML EYEPAKRFSI
RQIRQHSWFR KKHPPAEAPV PIPPSPDTKD RWRSMTVVPY LEDLHGADED EDLFDIEDDI
IYTQDFTVPG QVPEEEASHN GQRRGLPKAV CMNGTEAAQL STKSRAEGRA PNPARKACSA
SSKIRRLSAC KQQ*

Mutated AA sequence

MEVVDPQQLG MFTEGELMSV GMDTFIHRID STEVIYQPRR KRAKLIGKYL MGDLLGEGSY
GKVKEVLDSE TLCRRAVKIL KKKKLRRIPN GEANVKKEIQ LLRRLRHKNV IQLVDVLYNE
EKQKMYMVME YCVCGMQEML DSVPEKRFPV CQAHGYFCQL FDGLEYLHSQ GIVHKDIKPG
NLLLTTGGTL KISDLGVAEA LHPFAADDTC RTSQGSPAFQ PPEIANGLDT FSGFKVDIWS
AGVTLYNITT GLYPFEGDNI YKLFENIGKG SYAIPGDCGP PLSDLLKGML EYEPAKRFSI
RQIRQHSWFR KKHPPAEAPV PIPPSPDTKD RWRSMTVVPY LEDLHGADED EDLFDIEDDI
IYTQDFTVPG QVPEEEASHN GQRRGLPKAV CMNGTEAAQL STKSRAEGRA PNPARKACSA
SSKIRRLSAC KQQ*

Position of stopcodon in wt / mu CDS

1302 / 1302

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

434 / 434

Position of stopcodon in wt / mu cDNA

2438 / 2438

Position of start ATG in wt / mu cDNA

1137 / 1137

Last intron/exon boundary

2454

Theoretical NMD boundary in CDS

1267

Length of CDS

1302

Coding sequence (CDS) position

481

cDNA position

1617

gDNA position

42832

Chromosomal position

1220389

Speed

0.07 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:

19:1220389A>T_4_ENST00000714323

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 79|21 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:1220389A>T (GRCh38)

Gene symbol

STK11

Gene constraints

no data

Ensembl transcript ID

ENST00000714323.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.481A>T
g.42832A>T

AA changes

AAE:	I161F	?
Score:	21

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'T' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		161	V	C	Q	A	H	G	Y	F	C	Q	L	I	D	G	L	E	Y	L	H	S	Q	G	I	V
mutated	not conserved	161	V	C	Q	A	H	G	Y	F	C	Q	L	F	D	G	L	E	Y	L	H	S	Q	G	I
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.353	0.16
	1.325	0.74
(flanking)	7.91	0.995

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

17

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

19

Strand

1

Original gDNA sequence snippet

GCAGGTACTTCTGTCAGCTGATTGACGGCCTGGAGTACCTG

Altered gDNA sequence snippet

GCAGGTACTTCTGTCAGCTGTTTGACGGCCTGGAGTACCTG

Original cDNA sequence snippet

ACGGGTACTTCTGTCAGCTGATTGACGGCCTGGAGTACCTG

Altered cDNA sequence snippet

ACGGGTACTTCTGTCAGCTGTTTGACGGCCTGGAGTACCTG

Wildtype AA sequence

MEVVDPQQLG MFTEGELMSV GMDTFIHRID STEVIYQPRR KRAKLIGKYL MGDLLGEGSY
GKVKEVLDSE TLCRRAVKIL KKKKLRRIPN GEANVKKEIQ LLRRLRHKNV IQLVDVLYNE
EKQKMYMVME YCVCGMQEML DSVPEKRFPV CQAHGYFCQL IDGLEYLHSQ GIVHKDIKPG
NLLLTTGGTL KISDLGVAEA LHPFAADDTC RTSQGSPAFQ PPEIANGLDT FSGFKVDIWS
AGVTLYNITT GLYPFEGDNI YKLFENIGKG SYAIPGDCGP PLSDLLKGML EYEPAKRFSI
RQIRQHSWFR KKHPPAEAPV PIPPSPDTKD RWRSMTVVPY LEDLHGADED EDLFDIEDDI
IYTQDFTVPG PRRGGQSQWT APGPPQGRVY ERHRGGAAEH QIQGGGPGPQ PCPQGLLRQQ
QDPPAVGLQA AVRLAACSPC PGAPPGARAR PSVFLPVPPA LPERWPPCFC ADHAPGPPER
PAGPGRGTAG TGRSPPPSAA RQCTRLVDFA APGGAFPGGR GRREAASMHF MWRLLAPPVA
SCSAGRPAPS GGPAADQLAG VETRLLTPPC MQRHLEAARP LWFFVWLVPF SFFLFFFKKK
*

Mutated AA sequence

MEVVDPQQLG MFTEGELMSV GMDTFIHRID STEVIYQPRR KRAKLIGKYL MGDLLGEGSY
GKVKEVLDSE TLCRRAVKIL KKKKLRRIPN GEANVKKEIQ LLRRLRHKNV IQLVDVLYNE
EKQKMYMVME YCVCGMQEML DSVPEKRFPV CQAHGYFCQL FDGLEYLHSQ GIVHKDIKPG
NLLLTTGGTL KISDLGVAEA LHPFAADDTC RTSQGSPAFQ PPEIANGLDT FSGFKVDIWS
AGVTLYNITT GLYPFEGDNI YKLFENIGKG SYAIPGDCGP PLSDLLKGML EYEPAKRFSI
RQIRQHSWFR KKHPPAEAPV PIPPSPDTKD RWRSMTVVPY LEDLHGADED EDLFDIEDDI
IYTQDFTVPG PRRGGQSQWT APGPPQGRVY ERHRGGAAEH QIQGGGPGPQ PCPQGLLRQQ
QDPPAVGLQA AVRLAACSPC PGAPPGARAR PSVFLPVPPA LPERWPPCFC ADHAPGPPER
PAGPGRGTAG TGRSPPPSAA RQCTRLVDFA APGGAFPGGR GRREAASMHF MWRLLAPPVA
SCSAGRPAPS GGPAADQLAG VETRLLTPPC MQRHLEAARP LWFFVWLVPF SFFLFFFKKK
*

Position of stopcodon in wt / mu CDS

1803 / 1803

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

601 / 601

Position of stopcodon in wt / mu cDNA

2931 / 2931

Position of start ATG in wt / mu cDNA

1129 / 1129

Last intron/exon boundary

2441

Theoretical NMD boundary in CDS

1262

Length of CDS

1803

Coding sequence (CDS) position

481

cDNA position

1609

gDNA position

42832

Chromosomal position

1220389

Speed

0.07 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:

19:1220389A>T_1_ENST00000585465

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 83|17 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:1220389A>T (GRCh38)

Gene symbol

STK11

Gene constraints

LOEUF: 1.73, LOF (oe): 0.48, misssense (oe): 1.11, synonymous (oe): 1.02 ? (gnomAD)

Ensembl transcript ID

ENST00000585465.3

Genbank transcript ID

UniProt / AlphaMissense peptide

STK11_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.481A>T
g.42832A>T

AA changes

AAE:	I161F	?
Score:	21

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'T' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		161	V	C	Q	A	H	G	Y	F	C	Q	L	I	D	G	L	E	Y	L	H	S	Q	G	I	V
mutated	not conserved	161	V	C	Q	A	H	G	Y	F	C	Q	L	F	D	G	L	E	Y	L	H	S	Q	G	I
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	430	CHAIN		lost
49	309	DOMAIN	Protein kinase	lost
150	169	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.353	0.16
	1.325	0.74
(flanking)	7.91	0.995

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

17

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

19

Strand

1

Original gDNA sequence snippet

GCAGGTACTTCTGTCAGCTGATTGACGGCCTGGAGTACCTG

Altered gDNA sequence snippet

GCAGGTACTTCTGTCAGCTGTTTGACGGCCTGGAGTACCTG

Original cDNA sequence snippet

ACGGGTACTTCTGTCAGCTGATTGACGGCCTGGAGTACCTG

Altered cDNA sequence snippet

ACGGGTACTTCTGTCAGCTGTTTGACGGCCTGGAGTACCTG

Wildtype AA sequence

MEVVDPQQLG MFTEGELMSV GMDTFIHRID STEVIYQPRR KRAKLIGKYL MGDLLGEGSY
GKVKEVLDSE TLCRRAVKIL KKKKLRRIPN GEANVKKEIQ LLRRLRHKNV IQLVDVLYNE
EKQKMYMVME YCVCGMQEML DSVPEKRFPV CQAHGYFCQL IDGLEYLHSQ GIVHKDIKPG
NLLLTTGGTL KISDLGVAEA LHPFAADDTC RTSQGSPAFQ PPEIANGLDT FSGFKVDIWS
AGVTLYNITT GLYPFEGDNI YKLFENIGKG SYAIPGDCGP PLSDLLKGML EYEPAKRFSI
RQIRQHSWFR KKHPPAEAPV PIPPSPDTKD RWRSMTVVPY LEDLHGADED EDLFDIEDDI
IYTQDFTVPG GEEASEAGLR AERGLQKSEG SDLSGEEASR PAPQ*

Mutated AA sequence

MEVVDPQQLG MFTEGELMSV GMDTFIHRID STEVIYQPRR KRAKLIGKYL MGDLLGEGSY
GKVKEVLDSE TLCRRAVKIL KKKKLRRIPN GEANVKKEIQ LLRRLRHKNV IQLVDVLYNE
EKQKMYMVME YCVCGMQEML DSVPEKRFPV CQAHGYFCQL FDGLEYLHSQ GIVHKDIKPG
NLLLTTGGTL KISDLGVAEA LHPFAADDTC RTSQGSPAFQ PPEIANGLDT FSGFKVDIWS
AGVTLYNITT GLYPFEGDNI YKLFENIGKG SYAIPGDCGP PLSDLLKGML EYEPAKRFSI
RQIRQHSWFR KKHPPAEAPV PIPPSPDTKD RWRSMTVVPY LEDLHGADED EDLFDIEDDI
IYTQDFTVPG GEEASEAGLR AERGLQKSEG SDLSGEEASR PAPQ*

Position of stopcodon in wt / mu CDS

1215 / 1215

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

405 / 405

Position of stopcodon in wt / mu cDNA

2351 / 2351

Position of start ATG in wt / mu cDNA

1137 / 1137

Last intron/exon boundary

5270

Theoretical NMD boundary in CDS

4083

Length of CDS

1215

Coding sequence (CDS) position

481

cDNA position

1617

gDNA position

42832

Chromosomal position

1220389

Speed

0.09 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:

19:1220389A>T_5_ENST00000652231

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 87|13 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:1220389A>T (GRCh38)

Gene symbol

STK11

Gene constraints

LOEUF: 0.33, LOF (oe): 0.17, misssense (oe): 0.71, synonymous (oe): 1.28 ? (gnomAD)

Ensembl transcript ID

ENST00000652231.1

Genbank transcript ID

NM_001407255 (by similarity)

UniProt / AlphaMissense peptide

STK11_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.481A>T
g.42832A>T

AA changes

AAE:	I161F	?
Score:	21

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'T' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		161	V	C	Q	A	H	G	Y	F	C	Q	L	I	D	G	L	E	Y	L	H	S	Q	G	I	V
mutated	not conserved	161	V	C	Q	A	H	G	Y	F	C	Q	L	F	D	G	L	E	Y	L	H	S	Q	G	I
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	430	CHAIN		lost
49	309	DOMAIN	Protein kinase	lost
150	169	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.353	0.16
	1.325	0.74
(flanking)	7.91	0.995

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

17

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

19

Strand

1

Original gDNA sequence snippet

GCAGGTACTTCTGTCAGCTGATTGACGGCCTGGAGTACCTG

Altered gDNA sequence snippet

GCAGGTACTTCTGTCAGCTGTTTGACGGCCTGGAGTACCTG

Original cDNA sequence snippet

ACGGGTACTTCTGTCAGCTGATTGACGGCCTGGAGTACCTG

Altered cDNA sequence snippet

ACGGGTACTTCTGTCAGCTGTTTGACGGCCTGGAGTACCTG

Wildtype AA sequence

MEVVDPQQLG MFTEGELMSV GMDTFIHRID STEVIYQPRR KRAKLIGKYL MGDLLGEGSY
GKVKEVLDSE TLCRRAVKIL KKKKLRRIPN GEANVKKEIQ LLRRLRHKNV IQLVDVLYNE
EKQKMYMVME YCVCGMQEML DSVPEKRFPV CQAHGYFCQL IDGLEYLHSQ GIVHKDIKPG
NLLLTTGGTL KISDLGVAEA LHPFAADDTC RTSQGSPAFQ PPEIANGLDT FSGFKVDIWS
AGVTLYNITT GLYPFEGDNI YKLFENIGKG SYAIPGDCGP PLSDLLKGML EYEPAKRFSI
RQIRQHSWFR KKHPPAEAPV PIPPSPDTKD RWRSMTVVPY LEDLHGADED EDLFDIEDDI
IYTQDFTVPG GEEASEAGLR AERGLQKSEG SDLSGEEASR PAPQ*

Mutated AA sequence

MEVVDPQQLG MFTEGELMSV GMDTFIHRID STEVIYQPRR KRAKLIGKYL MGDLLGEGSY
GKVKEVLDSE TLCRRAVKIL KKKKLRRIPN GEANVKKEIQ LLRRLRHKNV IQLVDVLYNE
EKQKMYMVME YCVCGMQEML DSVPEKRFPV CQAHGYFCQL FDGLEYLHSQ GIVHKDIKPG
NLLLTTGGTL KISDLGVAEA LHPFAADDTC RTSQGSPAFQ PPEIANGLDT FSGFKVDIWS
AGVTLYNITT GLYPFEGDNI YKLFENIGKG SYAIPGDCGP PLSDLLKGML EYEPAKRFSI
RQIRQHSWFR KKHPPAEAPV PIPPSPDTKD RWRSMTVVPY LEDLHGADED EDLFDIEDDI
IYTQDFTVPG GEEASEAGLR AERGLQKSEG SDLSGEEASR PAPQ*

Position of stopcodon in wt / mu CDS

1215 / 1215

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

405 / 405

Position of stopcodon in wt / mu cDNA

1943 / 1943

Position of start ATG in wt / mu cDNA

729 / 729

Last intron/exon boundary

1836

Theoretical NMD boundary in CDS

1057

Length of CDS

1215

Coding sequence (CDS) position

481

cDNA position

1209

gDNA position

42832

Chromosomal position

1220389

Speed

0.07 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:

19:1220389A>T_6_ENST00000585851

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 93|7 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:1220389A>T (GRCh38)

Gene symbol

STK11

Gene constraints

LOEUF: 0.52, LOF (oe): 0.17, misssense (oe): 0.60, synonymous (oe): 1.24 ? (gnomAD)

Ensembl transcript ID

ENST00000585851.2

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.307A>T
g.42832A>T

AA changes

AAE:	I103F	?
Score:	21

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'T' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		103	E	A	N	V	K	K	Y	F	C	Q	L	I	D	G	L	E	Y	L	H	S	Q	G	I	V
mutated	not conserved	103	E	A	N	V	K	K	Y	F	C	Q	L	F	D	G	L	E	Y	L	H	S	Q	G	I
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.353	0.16
	1.325	0.74
(flanking)	7.91	0.995

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

17

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

19

Strand

1

Original gDNA sequence snippet

GCAGGTACTTCTGTCAGCTGATTGACGGCCTGGAGTACCTG

Altered gDNA sequence snippet

GCAGGTACTTCTGTCAGCTGTTTGACGGCCTGGAGTACCTG

Original cDNA sequence snippet

AGAAGTACTTCTGTCAGCTGATTGACGGCCTGGAGTACCTG

Altered cDNA sequence snippet

AGAAGTACTTCTGTCAGCTGTTTGACGGCCTGGAGTACCTG

Wildtype AA sequence

MEVVDPQQLG MFTEGELMSV GMDTFIHRID STEVIYQPRR KRAKLIGKYL MGDLLGEGSY
GKVKEVLDSE TLCRRAVKIL KKKKLRRIPN GEANVKKYFC QLIDGLEYLH SQGIVHKDIK
PGNLLLTTGG TLKISDLGVA EALHPFAADD TCRTSQGSPA FQPPEIANGL DTFSGFKVDI
WSAGVTLYNI TTGLYPFEGD NIYKLFENIG KGSYAIPGDC GPPLSDLLKG MLEYEPAKRF
SIRQIRQHSW FRKKHPPAEA PVPIPPSPDT KDRWRSMTVV PYLEDLHGAD EDEDLFDIED
DIIYTQDFTV PGQVPEEEAS HNGQRRGLPK AVCMNGTEAA QLSTKSRAEG RAPNPARKAC
SASSKIRRLS ACKQQ*

Mutated AA sequence

MEVVDPQQLG MFTEGELMSV GMDTFIHRID STEVIYQPRR KRAKLIGKYL MGDLLGEGSY
GKVKEVLDSE TLCRRAVKIL KKKKLRRIPN GEANVKKYFC QLFDGLEYLH SQGIVHKDIK
PGNLLLTTGG TLKISDLGVA EALHPFAADD TCRTSQGSPA FQPPEIANGL DTFSGFKVDI
WSAGVTLYNI TTGLYPFEGD NIYKLFENIG KGSYAIPGDC GPPLSDLLKG MLEYEPAKRF
SIRQIRQHSW FRKKHPPAEA PVPIPPSPDT KDRWRSMTVV PYLEDLHGAD EDEDLFDIED
DIIYTQDFTV PGQVPEEEAS HNGQRRGLPK AVCMNGTEAA QLSTKSRAEG RAPNPARKAC
SASSKIRRLS ACKQQ*

Position of stopcodon in wt / mu CDS

1128 / 1128

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

376 / 376

Position of stopcodon in wt / mu cDNA

1173 / 1173

Position of start ATG in wt / mu cDNA

46 / 46

Last intron/exon boundary

1189

Theoretical NMD boundary in CDS

1093

Length of CDS

1128

Coding sequence (CDS) position

307

cDNA position

352

gDNA position

42832

Chromosomal position

1220389

Speed

0.08 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:

19:1220389A>T_3_ENST00000714322

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Prediction:

DeleteriousPermalink

Summary:

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

Analysed issue

Analysis result

Variant

Chr19:1220389A>T (GRCh38)

Gene symbol

STK11

Gene constraints

no data

Ensembl transcript ID

ENST00000714322.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.465-26A>T
g.42832A>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 'T' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.353	0.16
	1.325	0.74
(flanking)	7.91	0.995

?

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

19

Strand

1

Original gDNA sequence snippet

GCAGGTACTTCTGTCAGCTGATTGACGGCCTGGAGTACCTG

Altered gDNA sequence snippet

GCAGGTACTTCTGTCAGCTGTTTGACGGCCTGGAGTACCTG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MEVVDPQQLG MFTEGELMSV GMDTFIHRID STEVIYQPRR KRAKLIGKYL MGDLLGEGSY
GKVKEVLDSE TLCRRAVKIL KKKKLRRIPN GEANVKKEIQ LLRRLRHKNV IQLVDVLYNE
EKQKMYMVME YCVCGMQEML DSVPEKRFPV CQAHGQGIVH KDIKPGNLLL TTGGTLKISD
LGVAEALHPF AADDTCRTSQ GSPAFQPPEI ANGLDTFSGF KVDIWSAGVT LYNITTGLYP
FEGDNIYKLF ENIGKGSYAI PGDCGPPLSD LLKGMLEYEP AKRFSIRQIR QHSWFRKKHP
PAEAPVPIPP SPDTKDRWRS MTVVPYLEDL HGADEDEDLF DIEDDIIYTQ DFTVPGQVPE
EEASHNGQRR GLPKAVCMNG TEAAQLSTKS RAEGRAPNPA RKACSASSKI RRLSACKQQ*

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

1134 / 1134

Last intron/exon boundary

2409

Theoretical NMD boundary in CDS

1225

Length of CDS

1260

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

42832

Chromosomal position

1220389

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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