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 0.28 s - this script 2.722799 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	79\|21	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000585465	STK11	Deleterious	92\|8	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000714322	STK11	Deleterious	95\|5	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000714323	STK11	Deleterious	95\|5	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000652231	STK11	Deleterious	99\|1	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000585851	STK11	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed

MutationT@ster 2025

Variant:

19:1223069G>C_2_ENST00000326873

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

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

Analysed issue

Analysis result

Variant

Chr19:1223069G>C (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.1005G>C
g.45512G>C

AA changes

AAE:	M335I	?
Score:	10

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		335	P	S	P	D	T	K	D	R	W	R	S	M	T	V	V	P	Y	L	E	D	L	H	G	A
mutated	all conserved	335	P	S	P	D	T	K	D	R	W	R	S	I	T	V	V	P	Y	L	E	D	L	H	G
Ptroglodytes	all identical	209	P	S	P	D	T	K	D	R	W	R	S	M	T	V	V	P	Y	L	E	D	L	H	G
Mmulatta	all identical	335	P	S	P	D	T	K	D	R	W	R	S	M	T	V	V	P	Y	L	E	D	L	H	G
Fcatus	all identical	335	P	S	S	D	C	K	D	R	W	R	G	M	T	V	V	P	Y	L	E	D	L	H	GC
Mmusculus	all identical	335	P	S	P	D	T	K	D	R	W	R	S	M	T	V	V	P	Y	L	E	D	L	H	GRAE
Ggallus	all identical	339	P	S	P	E	T	K	D	K	W	R	S	M	T	A	V	P	Y	L	E	D	L	H	GYN
Trubripes	all identical	333	A	S	A	E	C	R	D	P	W	R	S	M	T	V	V	P	Y	L	E	D	L	H	GY
Drerio	no homologue
Dmelanogaster	not conserved	461	P	L	K	G	-	-	D	K	Y	R	N	S	T	V	I	P	Y	L	E	A	Y	H	Y
Celegans	all conserved	470	E	R	M	R	T	G	D	-	-	R	P	L
Xtropicalis	all conserved	342	P	S	P	E	T	K	D	R	W	R	S	L	T	V	V	P	Y	L	E	D	L	H	G

Protein features

Start (aa)	End (aa)	Feature	Details
1	430	CHAIN		lost
334	336	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.975	1
	6.583	1
(flanking)	7.169	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

Yes

Chromosome

19

Strand

1

Original gDNA sequence snippet

AAGGACCGGTGGCGCAGCATGACTGTGGTGCCGTACTTGGA

Altered gDNA sequence snippet

AAGGACCGGTGGCGCAGCATCACTGTGGTGCCGTACTTGGA

Original cDNA sequence snippet

AAGGACCGGTGGCGCAGCATGACTGTGGTGCCGTACTTGGA

Altered cDNA sequence snippet

AAGGACCGGTGGCGCAGCATCACTGTGGTGCCGTACTTGGA

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 IDGLEYLHSQ GIVHKDIKPG
NLLLTTGGTL KISDLGVAEA LHPFAADDTC RTSQGSPAFQ PPEIANGLDT FSGFKVDIWS
AGVTLYNITT GLYPFEGDNI YKLFENIGKG SYAIPGDCGP PLSDLLKGML EYEPAKRFSI
RQIRQHSWFR KKHPPAEAPV PIPPSPDTKD RWRSITVVPY 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

1005

cDNA position

2141

gDNA position

45512

Chromosomal position

1223069

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

MutationT@ster 2025

Variant:

19:1223069G>C_1_ENST00000585465

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 92|8 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:1223069G>C (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.1005G>C
g.45512G>C

AA changes

AAE:	M335I	?
Score:	10

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		335	P	S	P	D	T	K	D	R	W	R	S	M	T	V	V	P	Y	L	E	D	L	H	G	A
mutated	all conserved	335	P	S	P	D	T	K	D	R	W	R	S	I	T	V	V	P	Y	L	E	D	L	H	G
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
334	336	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.975	1
	6.583	1
(flanking)	7.169	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

Yes

Chromosome

19

Strand

1

Original gDNA sequence snippet

AAGGACCGGTGGCGCAGCATGACTGTGGTGCCGTACTTGGA

Altered gDNA sequence snippet

AAGGACCGGTGGCGCAGCATCACTGTGGTGCCGTACTTGGA

Original cDNA sequence snippet

AAGGACCGGTGGCGCAGCATGACTGTGGTGCCGTACTTGGA

Altered cDNA sequence snippet

AAGGACCGGTGGCGCAGCATCACTGTGGTGCCGTACTTGGA

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 IDGLEYLHSQ GIVHKDIKPG
NLLLTTGGTL KISDLGVAEA LHPFAADDTC RTSQGSPAFQ PPEIANGLDT FSGFKVDIWS
AGVTLYNITT GLYPFEGDNI YKLFENIGKG SYAIPGDCGP PLSDLLKGML EYEPAKRFSI
RQIRQHSWFR KKHPPAEAPV PIPPSPDTKD RWRSITVVPY 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

1005

cDNA position

2141

gDNA position

45512

Chromosomal position

1223069

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:

19:1223069G>C_3_ENST00000714322

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 95|5 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:1223069G>C (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

CDS

DNA changes

c.963G>C
g.45512G>C

AA changes

AAE:	M321I	?
Score:	10

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		321	P	S	P	D	T	K	D	R	W	R	S	M	T	V	V	P	Y	L	E	D	L	H	G	A
mutated	all conserved	321	P	S	P	D	T	K	D	R	W	R	S	I	T	V	V	P	Y	L	E	D	L	H	G
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)	5.975	1
	6.583	1
(flanking)	7.169	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

Yes

Chromosome

19

Strand

1

Original gDNA sequence snippet

AAGGACCGGTGGCGCAGCATGACTGTGGTGCCGTACTTGGA

Altered gDNA sequence snippet

AAGGACCGGTGGCGCAGCATCACTGTGGTGCCGTACTTGGA

Original cDNA sequence snippet

AAGGACCGGTGGCGCAGCATGACTGTGGTGCCGTACTTGGA

Altered cDNA sequence snippet

AAGGACCGGTGGCGCAGCATCACTGTGGTGCCGTACTTGGA

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

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 ITVVPYLEDL HGADEDEDLF DIEDDIIYTQ DFTVPGQVPE
EEASHNGQRR GLPKAVCMNG TEAAQLSTKS RAEGRAPNPA RKACSASSKI RRLSACKQQ*

Position of stopcodon in wt / mu CDS

1260 / 1260

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

420 / 420

Position of stopcodon in wt / mu cDNA

2393 / 2393

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

963

cDNA position

2096

gDNA position

45512

Chromosomal position

1223069

Speed

0.04 s

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

Back to summary table

MutationT@ster 2025

Variant:

19:1223069G>C_4_ENST00000714323

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 95|5 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:1223069G>C (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.1005G>C
g.45512G>C

AA changes

AAE:	M335I	?
Score:	10

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		335	P	S	P	D	T	K	D	R	W	R	S	M	T	V	V	P	Y	L	E	D	L	H	G	A
mutated	all conserved	335	P	S	P	D	T	K	D	R	W	R	S	I	T	V	V	P	Y	L	E	D	L	H	G
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)	5.975	1
	6.583	1
(flanking)	7.169	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

Yes

Chromosome

19

Strand

1

Original gDNA sequence snippet

AAGGACCGGTGGCGCAGCATGACTGTGGTGCCGTACTTGGA

Altered gDNA sequence snippet

AAGGACCGGTGGCGCAGCATCACTGTGGTGCCGTACTTGGA

Original cDNA sequence snippet

AAGGACCGGTGGCGCAGCATGACTGTGGTGCCGTACTTGGA

Altered cDNA sequence snippet

AAGGACCGGTGGCGCAGCATCACTGTGGTGCCGTACTTGGA

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 IDGLEYLHSQ GIVHKDIKPG
NLLLTTGGTL KISDLGVAEA LHPFAADDTC RTSQGSPAFQ PPEIANGLDT FSGFKVDIWS
AGVTLYNITT GLYPFEGDNI YKLFENIGKG SYAIPGDCGP PLSDLLKGML EYEPAKRFSI
RQIRQHSWFR KKHPPAEAPV PIPPSPDTKD RWRSITVVPY 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

1005

cDNA position

2133

gDNA position

45512

Chromosomal position

1223069

Speed

0.04 s

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

Back to summary table

MutationT@ster 2025

Variant:

19:1223069G>C_5_ENST00000652231

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

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

Analysed issue

Analysis result

Variant

Chr19:1223069G>C (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.1005G>C
g.45512G>C

AA changes

AAE:	M335I	?
Score:	10

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		335	P	S	P	D	T	K	D	R	W	R	S	M	T	V	V	P	Y	L	E	D	L	H	G	A
mutated	all conserved	335	P	S	P	D	T	K	D	R	W	R	S	I	T	V	V	P	Y	L	E	D	L	H	G
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
334	336	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.975	1
	6.583	1
(flanking)	7.169	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

Yes

Chromosome

19

Strand

1

Original gDNA sequence snippet

AAGGACCGGTGGCGCAGCATGACTGTGGTGCCGTACTTGGA

Altered gDNA sequence snippet

AAGGACCGGTGGCGCAGCATCACTGTGGTGCCGTACTTGGA

Original cDNA sequence snippet

AAGGACCGGTGGCGCAGCATGACTGTGGTGCCGTACTTGGA

Altered cDNA sequence snippet

AAGGACCGGTGGCGCAGCATCACTGTGGTGCCGTACTTGGA

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 IDGLEYLHSQ GIVHKDIKPG
NLLLTTGGTL KISDLGVAEA LHPFAADDTC RTSQGSPAFQ PPEIANGLDT FSGFKVDIWS
AGVTLYNITT GLYPFEGDNI YKLFENIGKG SYAIPGDCGP PLSDLLKGML EYEPAKRFSI
RQIRQHSWFR KKHPPAEAPV PIPPSPDTKD RWRSITVVPY 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

1005

cDNA position

1733

gDNA position

45512

Chromosomal position

1223069

Speed

0.04 s

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

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MutationT@ster 2025

Variant:

19:1223069G>C_6_ENST00000585851

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:1223069G>C (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.831G>C
g.45512G>C

AA changes

AAE:	M277I	?
Score:	10

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		277	P	S	P	D	T	K	D	R	W	R	S	M	T	V	V	P	Y	L	E	D	L	H	G	A
mutated	all conserved	277	P	S	P	D	T	K	D	R	W	R	S	I	T	V	V	P	Y	L	E	D	L	H	G
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)	5.975	1
	6.583	1
(flanking)	7.169	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

Yes

Chromosome

19

Strand

1

Original gDNA sequence snippet

AAGGACCGGTGGCGCAGCATGACTGTGGTGCCGTACTTGGA

Altered gDNA sequence snippet

AAGGACCGGTGGCGCAGCATCACTGTGGTGCCGTACTTGGA

Original cDNA sequence snippet

AAGGACCGGTGGCGCAGCATGACTGTGGTGCCGTACTTGGA

Altered cDNA sequence snippet

AAGGACCGGTGGCGCAGCATCACTGTGGTGCCGTACTTGGA

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 QLIDGLEYLH SQGIVHKDIK
PGNLLLTTGG TLKISDLGVA EALHPFAADD TCRTSQGSPA FQPPEIANGL DTFSGFKVDI
WSAGVTLYNI TTGLYPFEGD NIYKLFENIG KGSYAIPGDC GPPLSDLLKG MLEYEPAKRF
SIRQIRQHSW FRKKHPPAEA PVPIPPSPDT KDRWRSITVV 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

831

cDNA position

876

gDNA position

45512

Chromosomal position

1223069

Speed

0.04 s

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

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