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: ENST00000682350
Querying Taster for transcript #2: ENST00000528731
Querying Taster for transcript #3: ENST00000339994
Querying Taster for transcript #4: ENST00000682764
MT speed 0.36 s - this script 2.794999 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000339994(MANE Select)	KCNJ11	Deleterious	95\|5	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000682350	KCNJ11	Deleterious	99\|1	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000528731	KCNJ11	Deleterious	99\|1	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000682764	KCNJ11	Deleterious	99\|1	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

11:17387490C>A_3_ENST00000339994

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

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

Analysed issue

Analysis result

Variant

Chr11:17387490C>A (GRCh38)

Gene symbol

KCNJ11

Gene constraints

LOEUF: 1.07, LOF (oe): 0.66, misssense (oe): 0.67, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000339994.5

Genbank transcript ID

NM_000525 (exact from MANE)

UniProt / AlphaMissense peptide

KCJ11_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.602G>T
g.1842G>T

AA changes

AAE:	R201L	?
Score:	102

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		201	A	L	R	H	G	R	L	C	F	M	L	R	V	G	D	L	R	K	S	M	I	I	S	A
mutated	not conserved	201	A	L	R	H	G	R	L	C	F	M	L	L	V	G	D	L	R	K	S	M	I	I	S
Ptroglodytes	all identical	201	A	L	R	H	G	R	L	C	F	M	L	R	V	G	D	L	R	K	S	M	I	I	S
Mmulatta	no homologue
Fcatus	all identical	201	A	V	R	H	G	R	L	C	F	M	L	R	V	G	D	L	R	K	S	M	I	I	S
Mmusculus	all identical	201	T	L	R	H	G	R	L	C	F	M	L	R	V	G	D	L	R	K	S	M	I	I	S
Ggallus	all identical	213	A	L	R	D	G	K	L	C	F	M	L	R	V	G	D	L	R	K	S	M	I	I	S
Trubripes	all identical	201	S	V	R	N	N	K	L	C	F	M	I	R	L	G	D	L	R	K	S	M	V	I	S
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	202	A	L	R	N	G	K	L	C	F	M	F	R	V	G	D	L	R	K	S	M	I	I	S

Protein features

Start (aa)	End (aa)	Feature	Details
1	390	CHAIN		lost
167	390	TOPO_DOM	Cytoplasmic	lost
195	204	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.524	0
	7.905	1
(flanking)	5.771	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

11

Strand

-1

Original gDNA sequence snippet

CCGCCTCTGCTTCATGCTACGTGTGGGTGACCTCCGCAAGA

Altered gDNA sequence snippet

CCGCCTCTGCTTCATGCTACTTGTGGGTGACCTCCGCAAGA

Original cDNA sequence snippet

CCGCCTCTGCTTCATGCTACGTGTGGGTGACCTCCGCAAGA

Altered cDNA sequence snippet

CCGCCTCTGCTTCATGCTACTTGTGGGTGACCTCCGCAAGA

Wildtype AA sequence

MLSRKGIIPE EYVLTRLAED PAKPRYRARQ RRARFVSKKG NCNVAHKNIR EQGRFLQDVF
TTLVDLKWPH TLLIFTMSFL CSWLLFAMAW WLIAFAHGDL APSEGTAEPC VTSIHSFSSA
FLFSIEVQVT IGFGGRMVTE ECPLAILILI VQNIVGLMIN AIMLGCIFMK TAQAHRRAET
LIFSKHAVIA LRHGRLCFML RVGDLRKSMI ISATIHMQVV RKTTSPEGEV VPLHQVDIPM
ENGVGGNSIF LVAPLIIYHV IDANSPLYDL APSDLHHHQD LEIIVILEGV VETTGITTQA
RTSYLADEIL WGQRFVPIVA EEDGRYSVDY SKFGNTVKVP TPLCTARQLD EDHSLLEALT
LASARGPLRK RSVPMAKAKP KFSISPDSLS *

Mutated AA sequence

MLSRKGIIPE EYVLTRLAED PAKPRYRARQ RRARFVSKKG NCNVAHKNIR EQGRFLQDVF
TTLVDLKWPH TLLIFTMSFL CSWLLFAMAW WLIAFAHGDL APSEGTAEPC VTSIHSFSSA
FLFSIEVQVT IGFGGRMVTE ECPLAILILI VQNIVGLMIN AIMLGCIFMK TAQAHRRAET
LIFSKHAVIA LRHGRLCFML LVGDLRKSMI ISATIHMQVV RKTTSPEGEV VPLHQVDIPM
ENGVGGNSIF LVAPLIIYHV IDANSPLYDL APSDLHHHQD LEIIVILEGV VETTGITTQA
RTSYLADEIL WGQRFVPIVA EEDGRYSVDY SKFGNTVKVP TPLCTARQLD EDHSLLEALT
LASARGPLRK RSVPMAKAKP KFSISPDSLS *

Position of stopcodon in wt / mu CDS

1173 / 1173

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

391 / 391

Position of stopcodon in wt / mu cDNA

1741 / 1741

Position of start ATG in wt / mu cDNA

569 / 569

Last intron/exon boundary

0

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

1173

Coding sequence (CDS) position

602

cDNA position

1170

gDNA position

1842

Chromosomal position

17387490

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

Back to summary table

MutationT@ster 2025

Variant:

11:17387490C>A_1_ENST00000682350

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

Chr11:17387490C>A (GRCh38)

Gene symbol

KCNJ11

Gene constraints

LOEUF: 1.20, LOF (oe): 0.69, misssense (oe): 0.66, synonymous (oe): 0.91 ? (gnomAD)

Ensembl transcript ID

ENST00000682350.1

Genbank transcript ID

NM_001377297 (by similarity), NM_001377296 (by similarity)

UniProt / AlphaMissense peptide

KCJ11_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.341G>T
g.1842G>T

AA changes

AAE:	R114L	?
Score:	102

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		114	A	L	R	H	G	R	L	C	F	M	L	R	V	G	D	L	R	K	S	M	I	I	S	A
mutated	not conserved	114	A	L	R	H	G	R	L	C	F	M	L	L	V	G	D	L	R	K
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	390	CHAIN		lost
94	116	TOPO_DOM	Extracellular	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.524	0
	7.905	1
(flanking)	5.771	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

11

Strand

-1

Original gDNA sequence snippet

CCGCCTCTGCTTCATGCTACGTGTGGGTGACCTCCGCAAGA

Altered gDNA sequence snippet

CCGCCTCTGCTTCATGCTACTTGTGGGTGACCTCCGCAAGA

Original cDNA sequence snippet

CCGCCTCTGCTTCATGCTACGTGTGGGTGACCTCCGCAAGA

Altered cDNA sequence snippet

CCGCCTCTGCTTCATGCTACTTGTGGGTGACCTCCGCAAGA

Wildtype AA sequence

MAWWLIAFAH GDLAPSEGTA EPCVTSIHSF SSAFLFSIEV QVTIGFGGRM VTEECPLAIL
ILIVQNIVGL MINAIMLGCI FMKTAQAHRR AETLIFSKHA VIALRHGRLC FMLRVGDLRK
SMIISATIHM QVVRKTTSPE GEVVPLHQVD IPMENGVGGN SIFLVAPLII YHVIDANSPL
YDLAPSDLHH HQDLEIIVIL EGVVETTGIT TQARTSYLAD EILWGQRFVP IVAEEDGRYS
VDYSKFGNTV KVPTPLCTAR QLDEDHSLLE ALTLASARGP LRKRSVPMAK AKPKFSISPD
SLS*

Mutated AA sequence

MAWWLIAFAH GDLAPSEGTA EPCVTSIHSF SSAFLFSIEV QVTIGFGGRM VTEECPLAIL
ILIVQNIVGL MINAIMLGCI FMKTAQAHRR AETLIFSKHA VIALRHGRLC FMLLVGDLRK
SMIISATIHM QVVRKTTSPE GEVVPLHQVD IPMENGVGGN SIFLVAPLII YHVIDANSPL
YDLAPSDLHH HQDLEIIVIL EGVVETTGIT TQARTSYLAD EILWGQRFVP IVAEEDGRYS
VDYSKFGNTV KVPTPLCTAR QLDEDHSLLE ALTLASARGP LRKRSVPMAK AKPKFSISPD
SLS*

Position of stopcodon in wt / mu CDS

912 / 912

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

304 / 304

Position of stopcodon in wt / mu cDNA

998 / 998

Position of start ATG in wt / mu cDNA

87 / 87

Last intron/exon boundary

70

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

912

Coding sequence (CDS) position

341

cDNA position

427

gDNA position

1842

Chromosomal position

17387490

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:

11:17387490C>A_2_ENST00000528731

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

Chr11:17387490C>A (GRCh38)

Gene symbol

KCNJ11

Gene constraints

LOEUF: 1.20, LOF (oe): 0.69, misssense (oe): 0.66, synonymous (oe): 0.91 ? (gnomAD)

Ensembl transcript ID

ENST00000528731.1

Genbank transcript ID

NM_001166290 (by similarity)

UniProt / AlphaMissense peptide

KCJ11_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.341G>T
g.1842G>T

AA changes

AAE:	R114L	?
Score:	102

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		114	A	L	R	H	G	R	L	C	F	M	L	R	V	G	D	L	R	K	S	M	I	I	S	A
mutated	not conserved	114	A	L	R	H	G	R	L	C	F	M	L	L	V	G	D	L	R	K
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	390	CHAIN		lost
94	116	TOPO_DOM	Extracellular	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.524	0
	7.905	1
(flanking)	5.771	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

11

Strand

-1

Original gDNA sequence snippet

CCGCCTCTGCTTCATGCTACGTGTGGGTGACCTCCGCAAGA

Altered gDNA sequence snippet

CCGCCTCTGCTTCATGCTACTTGTGGGTGACCTCCGCAAGA

Original cDNA sequence snippet

CCGCCTCTGCTTCATGCTACGTGTGGGTGACCTCCGCAAGA

Altered cDNA sequence snippet

CCGCCTCTGCTTCATGCTACTTGTGGGTGACCTCCGCAAGA

Wildtype AA sequence

MAWWLIAFAH GDLAPSEGTA EPCVTSIHSF SSAFLFSIEV QVTIGFGGRM VTEECPLAIL
ILIVQNIVGL MINAIMLGCI FMKTAQAHRR AETLIFSKHA VIALRHGRLC FMLRVGDLRK
SMIISATIHM QVVRKTTSPE GEVVPLHQVD IPMENGVGGN SIFLVAPLII YHVIDANSPL
YDLAPSDLHH HQDLEIIVIL EGVVETTGIT TQARTSYLAD EILWGQRFVP IVAEEDGRYS
VDYSKFGNTV KVPTPLCTAR QLDEDHSLLE ALTLASARGP LRKRSVPMAK AKPKFSISPD
SLS*

Mutated AA sequence

MAWWLIAFAH GDLAPSEGTA EPCVTSIHSF SSAFLFSIEV QVTIGFGGRM VTEECPLAIL
ILIVQNIVGL MINAIMLGCI FMKTAQAHRR AETLIFSKHA VIALRHGRLC FMLLVGDLRK
SMIISATIHM QVVRKTTSPE GEVVPLHQVD IPMENGVGGN SIFLVAPLII YHVIDANSPL
YDLAPSDLHH HQDLEIIVIL EGVVETTGIT TQARTSYLAD EILWGQRFVP IVAEEDGRYS
VDYSKFGNTV KVPTPLCTAR QLDEDHSLLE ALTLASARGP LRKRSVPMAK AKPKFSISPD
SLS*

Position of stopcodon in wt / mu CDS

912 / 912

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

304 / 304

Position of stopcodon in wt / mu cDNA

1086 / 1086

Position of start ATG in wt / mu cDNA

175 / 175

Last intron/exon boundary

158

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

912

Coding sequence (CDS) position

341

cDNA position

515

gDNA position

1842

Chromosomal position

17387490

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

Back to summary table

MutationT@ster 2025

Variant:

11:17387490C>A_4_ENST00000682764

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

Chr11:17387490C>A (GRCh38)

Gene symbol

KCNJ11

Gene constraints

LOEUF: 1.20, LOF (oe): 0.69, misssense (oe): 0.66, synonymous (oe): 0.91 ? (gnomAD)

Ensembl transcript ID

ENST00000682764.1

Genbank transcript ID

UniProt / AlphaMissense peptide

KCJ11_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.341G>T
g.1842G>T

AA changes

AAE:	R114L	?
Score:	102

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

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

Protein conservation

Species	Match	AA	Alignment
Human		114	A	L	R	H	G	R	L	C	F	M	L	R	V	G	D	L	R	K	S	M	I	I	S	A
mutated	not conserved	114	A	L	R	H	G	R	L	C	F	M	L	L	V	G	D	L	R	K
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	390	CHAIN		lost
94	116	TOPO_DOM	Extracellular	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.524	0
	7.905	1
(flanking)	5.771	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

11

Strand

-1

Original gDNA sequence snippet

CCGCCTCTGCTTCATGCTACGTGTGGGTGACCTCCGCAAGA

Altered gDNA sequence snippet

CCGCCTCTGCTTCATGCTACTTGTGGGTGACCTCCGCAAGA

Original cDNA sequence snippet

CCGCCTCTGCTTCATGCTACGTGTGGGTGACCTCCGCAAGA

Altered cDNA sequence snippet

CCGCCTCTGCTTCATGCTACTTGTGGGTGACCTCCGCAAGA

Wildtype AA sequence

MAWWLIAFAH GDLAPSEGTA EPCVTSIHSF SSAFLFSIEV QVTIGFGGRM VTEECPLAIL
ILIVQNIVGL MINAIMLGCI FMKTAQAHRR AETLIFSKHA VIALRHGRLC FMLRVGDLRK
SMIISATIHM QVVRKTTSPE GEVVPLHQVD IPMENGVGGN SIFLVAPLII YHVIDANSPL
YDLAPSDLHH HQDLEIIVIL EGVVETTGIT TQARTSYLAD EILWGQRFVP IVAEEDGRYS
VDYSKFGNTV KVPTPLCTAR QLDEDHSLLE ALTLASARGP LRKRSVPMAK AKPKFSISPD
SLS*

Mutated AA sequence

MAWWLIAFAH GDLAPSEGTA EPCVTSIHSF SSAFLFSIEV QVTIGFGGRM VTEECPLAIL
ILIVQNIVGL MINAIMLGCI FMKTAQAHRR AETLIFSKHA VIALRHGRLC FMLLVGDLRK
SMIISATIHM QVVRKTTSPE GEVVPLHQVD IPMENGVGGN SIFLVAPLII YHVIDANSPL
YDLAPSDLHH HQDLEIIVIL EGVVETTGIT TQARTSYLAD EILWGQRFVP IVAEEDGRYS
VDYSKFGNTV KVPTPLCTAR QLDEDHSLLE ALTLASARGP LRKRSVPMAK AKPKFSISPD
SLS*

Position of stopcodon in wt / mu CDS

912 / 912

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

304 / 304

Position of stopcodon in wt / mu cDNA

982 / 982

Position of start ATG in wt / mu cDNA

71 / 71

Last intron/exon boundary

1032

Theoretical NMD boundary in CDS

911

Length of CDS

912

Coding sequence (CDS) position

341

cDNA position

411

gDNA position

1842

Chromosomal position

17387490

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