MutationT@ster 2025

NEVER press reload or F5 - unless you want to start from the very beginning.
Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000330883
Querying Taster for transcript #2: ENST00000713701
Querying Taster for transcript #3: ENST00000713710
Querying Taster for transcript #4: ENST00000262186
MT speed 0.47 s - this script 2.925681 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000330883	KCNH2	Deleterious	83\|17	simple_aae	Yes	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected Splice site changes
ENST00000262186(MANE Select)	KCNH2	Deleterious	87\|13	simple_aae	Yes	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected Splice site changes
ENST00000713701	KCNH2	Deleterious	88\|12	simple_aae	Yes	Single base exchange	Normal	Amino acid sequence changed Splice site changes
ENST00000713710	KCNH2	Deleterious	88\|12	simple_aae	Yes	Single base exchange	Normal	Amino acid sequence changed Splice site changes

MutationT@ster 2025

Variant:

7:150948446T>A_1_ENST00000330883

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected
Splice site changes

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

Analysed issue

Analysis result

Variant

Chr7:150948446T>A (GRCh38)

Gene symbol

KCNH2

Gene constraints

LOEUF: 0.64, LOF (oe): 0.47, misssense (oe): 0.77, synonymous (oe): 1.06 ? (gnomAD)

Ensembl transcript ID

ENST00000330883.9

Genbank transcript ID

NM_172057 (by similarity)

UniProt / AlphaMissense peptide

KCNH2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1670A>T
g.29876A>T

AA changes

AAE:	K557M	?
Score:	95

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1805123
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	3	3

Protein conservation

Species	Match	AA	Alignment
Human		557	K	R	K	L	S	F	R	R	R	T	D	K	D	T	E	Q	P	G	E	V	S	A	L	G
mutated	not conserved	557	K	R	K	L	S	F	R	R	R	T	D	M	D	T	E	Q	P	G	E	V	S	A	L
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	1159	CHAIN		lost
548	568	TRANSMEM	Helical	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.32	0.997
	2.77	1
(flanking)	3.442	1

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Donor weakened	29878	wt: 7.13 / mu: 6.74	-	wt: ACGGACAAGG\|gtgaggcggg mu: ACGGACATGG\|gtgaggcggg

Distance from splice site

3

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

-1

Original gDNA sequence snippet

CTTCCGCAGGCGCACGGACAAGGGTGAGGCGGGGGAGGGGA

Altered gDNA sequence snippet

CTTCCGCAGGCGCACGGACATGGGTGAGGCGGGGGAGGGGA

Original cDNA sequence snippet

CTTCCGCAGGCGCACGGACAAGGACACGGAGCAGCCAGGGG

Altered cDNA sequence snippet

CTTCCGCAGGCGCACGGACATGGACACGGAGCAGCCAGGGG

Wildtype AA sequence

MAAPAGKASR TGALRPRAQK GRVRRAVRIS SLVAQEVLSL GADVLPEYKL QAPRIHRWTI
LHYSPFKAVW DWLILLLVIY TAVFTPYSAA FLLKETEEGP PATECGYACQ PLAVVDLIVD
IMFIVDILIN FRTTYVNANE EVVSHPGRIA VHYFKGWFLI DMVAAIPFDL LIFGSGSEEL
IGLLKTARLL RLVRVARKLD RYSEYGAAVL FLLMCTFALI AHWLACIWYA IGNMEQPHMD
SRIGWLHNLG DQIGKPYNSS GLGGPSIKDK YVTALYFTFS SLTSVGFGNV SPNTNSEKIF
SICVMLIGSL MYASIFGNVS AIIQRLYSGT ARYHTQMLRV REFIRFHQIP NPLRQRLEEY
FQHAWSYTNG IDMNAVLKGF PECLQADICL HLNRSLLQHC KPFRGATKGC LRALAMKFKT
THAPPGDTLV HAGDLLTALY FISRGSIEIL RGDVVVAILG KNDIFGEPLN LYARPGKSNG
DVRALTYCDL HKIHRDDLLE VLDMYPEFSD HFWSSLEITF NLRDTNMIPG SPGSTELEGG
FSRQRKRKLS FRRRTDKDTE QPGEVSALGP GRAGAGPSSR GRPGGPWGES PSSGPSSPES
SEDEGPGRSS SPLRLVPFSS PRPPGEPPGG EPLMEDCEKS SDTCNPLSGA FSGVSNIFSF
WGDSRGRQYQ ELPRCPAPTP SLLNIPLSSP GRRPRGDVES RLDALQRQLN RLETRLSADM
ATVLQLLQRQ MTLVPPAYSA VTTPGPGPTS TSPLLPVSPL PTLTLDSLSQ VSQFMACEEL
PPGAPELPQE GPTRRLSLPG QLGALTSQPL HRHGSDPGS*

Mutated AA sequence

MAAPAGKASR TGALRPRAQK GRVRRAVRIS SLVAQEVLSL GADVLPEYKL QAPRIHRWTI
LHYSPFKAVW DWLILLLVIY TAVFTPYSAA FLLKETEEGP PATECGYACQ PLAVVDLIVD
IMFIVDILIN FRTTYVNANE EVVSHPGRIA VHYFKGWFLI DMVAAIPFDL LIFGSGSEEL
IGLLKTARLL RLVRVARKLD RYSEYGAAVL FLLMCTFALI AHWLACIWYA IGNMEQPHMD
SRIGWLHNLG DQIGKPYNSS GLGGPSIKDK YVTALYFTFS SLTSVGFGNV SPNTNSEKIF
SICVMLIGSL MYASIFGNVS AIIQRLYSGT ARYHTQMLRV REFIRFHQIP NPLRQRLEEY
FQHAWSYTNG IDMNAVLKGF PECLQADICL HLNRSLLQHC KPFRGATKGC LRALAMKFKT
THAPPGDTLV HAGDLLTALY FISRGSIEIL RGDVVVAILG KNDIFGEPLN LYARPGKSNG
DVRALTYCDL HKIHRDDLLE VLDMYPEFSD HFWSSLEITF NLRDTNMIPG SPGSTELEGG
FSRQRKRKLS FRRRTDMDTE QPGEVSALGP GRAGAGPSSR GRPGGPWGES PSSGPSSPES
SEDEGPGRSS SPLRLVPFSS PRPPGEPPGG EPLMEDCEKS SDTCNPLSGA FSGVSNIFSF
WGDSRGRQYQ ELPRCPAPTP SLLNIPLSSP GRRPRGDVES RLDALQRQLN RLETRLSADM
ATVLQLLQRQ MTLVPPAYSA VTTPGPGPTS TSPLLPVSPL PTLTLDSLSQ VSQFMACEEL
PPGAPELPQE GPTRRLSLPG QLGALTSQPL HRHGSDPGS*

Position of stopcodon in wt / mu CDS

2460 / 2460

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

820 / 820

Position of stopcodon in wt / mu cDNA

2761 / 2761

Position of start ATG in wt / mu cDNA

302 / 302

Last intron/exon boundary

2611

Theoretical NMD boundary in CDS

2259

Length of CDS

2460

Coding sequence (CDS) position

1670

cDNA position

1971

gDNA position

29876

Chromosomal position

150948446

Speed

0.13 s

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

Back to summary table

MutationT@ster 2025

Variant:

7:150948446T>A_4_ENST00000262186

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected
Splice site changes

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

Analysed issue

Analysis result

Variant

Chr7:150948446T>A (GRCh38)

Gene symbol

KCNH2

Gene constraints

LOEUF: 0.57, LOF (oe): 0.43, misssense (oe): 0.82, synonymous (oe): 1.14 ? (gnomAD)

Ensembl transcript ID

ENST00000262186.10

Genbank transcript ID

NM_000238 (exact from MANE)

UniProt / AlphaMissense peptide

KCNH2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2690A>T
g.29876A>T

AA changes

AAE:	K897M	?
Score:	95

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1805123
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	3	3

Protein conservation

Species	Match	AA	Alignment
Human		897	K	R	K	L	S	F	R	R	R	T	D	K	D	T	E	Q	P	G	E	V	S	A	L	G
mutated	not conserved	897	K	R	K	L	S	F	R	R	R	T	D	M	D	T	E
Ptroglodytes	all identical	897	K	R	K	L	S	F	R	R	R	T	D	K	D	T	E
Mmulatta	all identical	897	K	R	K	L	S	F	R	R	R	T	D	K	D	T	E
Fcatus	all identical	905							R	R	R	T	D	K	D	P	E	Q	P	G	E	V	S	A	L
Mmusculus	all identical	899	K	R	K	L	S	F	R	R	R	T	D	K	D	T	E	Q	P	G	E	V	S	A	L
Ggallus	all identical	942	K	R	K	L	S	F	R	R	R	T	E	K	D	A	E	A	A	G	E	P	R	G	G
Trubripes	all identical	2685	R	R	K	L	S	F	R	R	R	T	E	K	D	D	A	D	A	G	E	I	K	K	S
Drerio	no homologue
Dmelanogaster	no alignment	n/a
Celegans	no homologue
Xtropicalis	all identical	911	R	R	K	L	S	F	R	R	R	T	D	K	D	A	E	N	A	G	E	A	KR	S	Q

Protein features

Start (aa)	End (aa)	Feature	Details
1	1159	CHAIN		lost
660	1159	TOPO_DOM	Cytoplasmic	lost
870	982	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.32	0.997
	2.77	1
(flanking)	3.442	1

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Donor weakened	29878	wt: 7.13 / mu: 6.74	-	wt: ACGGACAAGG\|gtgaggcggg mu: ACGGACATGG\|gtgaggcggg

Distance from splice site

3

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

-1

Original gDNA sequence snippet

CTTCCGCAGGCGCACGGACAAGGGTGAGGCGGGGGAGGGGA

Altered gDNA sequence snippet

CTTCCGCAGGCGCACGGACATGGGTGAGGCGGGGGAGGGGA

Original cDNA sequence snippet

CTTCCGCAGGCGCACGGACAAGGACACGGAGCAGCCAGGGG

Altered cDNA sequence snippet

CTTCCGCAGGCGCACGGACATGGACACGGAGCAGCCAGGGG

Wildtype AA sequence

MPVRRGHVAP QNTFLDTIIR KFEGQSRKFI IANARVENCA VIYCNDGFCE LCGYSRAEVM
QRPCTCDFLH GPRTQRRAAA QIAQALLGAE ERKVEIAFYR KDGSCFLCLV DVVPVKNEDG
AVIMFILNFE VVMEKDMVGS PAHDTNHRGP PTSWLAPGRA KTFRLKLPAL LALTARESSV
RSGGAGGAGA PGAVVVDVDL TPAAPSSESL ALDEVTAMDN HVAGLGPAEE RRALVGPGSP
PRSAPGQLPS PRAHSLNPDA SGSSCSLART RSRESCASVR RASSADDIEA MRAGVLPPPP
RHASTGAMHP LRSGLLNSTS DSDLVRYRTI SKIPQITLNF VDLKGDPFLA SPTSDREIIA
PKIKERTHNV TEKVTQVLSL GADVLPEYKL QAPRIHRWTI LHYSPFKAVW DWLILLLVIY
TAVFTPYSAA FLLKETEEGP PATECGYACQ PLAVVDLIVD IMFIVDILIN FRTTYVNANE
EVVSHPGRIA VHYFKGWFLI DMVAAIPFDL LIFGSGSEEL IGLLKTARLL RLVRVARKLD
RYSEYGAAVL FLLMCTFALI AHWLACIWYA IGNMEQPHMD SRIGWLHNLG DQIGKPYNSS
GLGGPSIKDK YVTALYFTFS SLTSVGFGNV SPNTNSEKIF SICVMLIGSL MYASIFGNVS
AIIQRLYSGT ARYHTQMLRV REFIRFHQIP NPLRQRLEEY FQHAWSYTNG IDMNAVLKGF
PECLQADICL HLNRSLLQHC KPFRGATKGC LRALAMKFKT THAPPGDTLV HAGDLLTALY
FISRGSIEIL RGDVVVAILG KNDIFGEPLN LYARPGKSNG DVRALTYCDL HKIHRDDLLE
VLDMYPEFSD HFWSSLEITF NLRDTNMIPG SPGSTELEGG FSRQRKRKLS FRRRTDKDTE
QPGEVSALGP GRAGAGPSSR GRPGGPWGES PSSGPSSPES SEDEGPGRSS SPLRLVPFSS
PRPPGEPPGG EPLMEDCEKS SDTCNPLSGA FSGVSNIFSF WGDSRGRQYQ ELPRCPAPTP
SLLNIPLSSP GRRPRGDVES RLDALQRQLN RLETRLSADM ATVLQLLQRQ MTLVPPAYSA
VTTPGPGPTS TSPLLPVSPL PTLTLDSLSQ VSQFMACEEL PPGAPELPQE GPTRRLSLPG
QLGALTSQPL HRHGSDPGS*

Mutated AA sequence

MPVRRGHVAP QNTFLDTIIR KFEGQSRKFI IANARVENCA VIYCNDGFCE LCGYSRAEVM
QRPCTCDFLH GPRTQRRAAA QIAQALLGAE ERKVEIAFYR KDGSCFLCLV DVVPVKNEDG
AVIMFILNFE VVMEKDMVGS PAHDTNHRGP PTSWLAPGRA KTFRLKLPAL LALTARESSV
RSGGAGGAGA PGAVVVDVDL TPAAPSSESL ALDEVTAMDN HVAGLGPAEE RRALVGPGSP
PRSAPGQLPS PRAHSLNPDA SGSSCSLART RSRESCASVR RASSADDIEA MRAGVLPPPP
RHASTGAMHP LRSGLLNSTS DSDLVRYRTI SKIPQITLNF VDLKGDPFLA SPTSDREIIA
PKIKERTHNV TEKVTQVLSL GADVLPEYKL QAPRIHRWTI LHYSPFKAVW DWLILLLVIY
TAVFTPYSAA FLLKETEEGP PATECGYACQ PLAVVDLIVD IMFIVDILIN FRTTYVNANE
EVVSHPGRIA VHYFKGWFLI DMVAAIPFDL LIFGSGSEEL IGLLKTARLL RLVRVARKLD
RYSEYGAAVL FLLMCTFALI AHWLACIWYA IGNMEQPHMD SRIGWLHNLG DQIGKPYNSS
GLGGPSIKDK YVTALYFTFS SLTSVGFGNV SPNTNSEKIF SICVMLIGSL MYASIFGNVS
AIIQRLYSGT ARYHTQMLRV REFIRFHQIP NPLRQRLEEY FQHAWSYTNG IDMNAVLKGF
PECLQADICL HLNRSLLQHC KPFRGATKGC LRALAMKFKT THAPPGDTLV HAGDLLTALY
FISRGSIEIL RGDVVVAILG KNDIFGEPLN LYARPGKSNG DVRALTYCDL HKIHRDDLLE
VLDMYPEFSD HFWSSLEITF NLRDTNMIPG SPGSTELEGG FSRQRKRKLS FRRRTDMDTE
QPGEVSALGP GRAGAGPSSR GRPGGPWGES PSSGPSSPES SEDEGPGRSS SPLRLVPFSS
PRPPGEPPGG EPLMEDCEKS SDTCNPLSGA FSGVSNIFSF WGDSRGRQYQ ELPRCPAPTP
SLLNIPLSSP GRRPRGDVES RLDALQRQLN RLETRLSADM ATVLQLLQRQ MTLVPPAYSA
VTTPGPGPTS TSPLLPVSPL PTLTLDSLSQ VSQFMACEEL PPGAPELPQE GPTRRLSLPG
QLGALTSQPL HRHGSDPGS*

Position of stopcodon in wt / mu CDS

3480 / 3480

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

1160 / 1160

Position of stopcodon in wt / mu cDNA

3888 / 3888

Position of start ATG in wt / mu cDNA

409 / 409

Last intron/exon boundary

3738

Theoretical NMD boundary in CDS

3279

Length of CDS

3480

Coding sequence (CDS) position

2690

cDNA position

3098

gDNA position

29876

Chromosomal position

150948446

Speed

0.12 s

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

Back to summary table

MutationT@ster 2025

Variant:

7:150948446T>A_2_ENST00000713701

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Splice site changes

Model: simple_aae
Tree vote: 88|12 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:150948446T>A (GRCh38)

Gene symbol

KCNH2

Gene constraints

no data

Ensembl transcript ID

ENST00000713701.1

Genbank transcript ID

NM_001406753 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2390A>T
g.29876A>T

AA changes

AAE:	K797M	?
Score:	95

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1805123
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	3	3

Protein conservation

Species	Match	AA	Alignment
Human		797	K	R	K	L	S	F	R	R	R	T	D	K	D	T	E	Q	P	G	E	V	S	A	L	G
mutated	not conserved	797	K	R	K	L	S	F	R	R	R	T	D	M	D	T	E	Q	P	G	E	V	S	A	L
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)	0.32	0.997
	2.77	1
(flanking)	3.442	1

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Donor weakened	29878	wt: 7.13 / mu: 6.74	-	wt: ACGGACAAGG\|gtgaggcggg mu: ACGGACATGG\|gtgaggcggg

Distance from splice site

3

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

-1

Original gDNA sequence snippet

CTTCCGCAGGCGCACGGACAAGGGTGAGGCGGGGGAGGGGA

Altered gDNA sequence snippet

CTTCCGCAGGCGCACGGACATGGGTGAGGCGGGGGAGGGGA

Original cDNA sequence snippet

CTTCCGCAGGCGCACGGACAAGGACACGGAGCAGCCAGGGG

Altered cDNA sequence snippet

CTTCCGCAGGCGCACGGACATGGACACGGAGCAGCCAGGGG

Wildtype AA sequence

MAGSCFLCLV DVVPVKNEDG AVIMFILNFE VVMEKDMVGS PAHDTNHRGP PTSWLAPGRA
KTFRLKLPAL LALTARESSV RSGGAGGAGA PGAVVVDVDL TPAAPSSESL ALDEVTAMDN
HVAGLGPAEE RRALVGPGSP PRSAPGQLPS PRAHSLNPDA SGSSCSLART RSRESCASVR
RASSADDIEA MRAGVLPPPP RHASTGAMHP LRSGLLNSTS DSDLVRYRTI SKIPQITLNF
VDLKGDPFLA SPTSDREIIA PKIKERTHNV TEKVTQVLSL GADVLPEYKL QAPRIHRWTI
LHYSPFKAVW DWLILLLVIY TAVFTPYSAA FLLKETEEGP PATECGYACQ PLAVVDLIVD
IMFIVDILIN FRTTYVNANE EVVSHPGRIA VHYFKGWFLI DMVAAIPFDL LIFGSGSEEL
IGLLKTARLL RLVRVARKLD RYSEYGAAVL FLLMCTFALI AHWLACIWYA IGNMEQPHMD
SRIGWLHNLG DQIGKPYNSS GLGGPSIKDK YVTALYFTFS SLTSVGFGNV SPNTNSEKIF
SICVMLIGSL MYASIFGNVS AIIQRLYSGT ARYHTQMLRV REFIRFHQIP NPLRQRLEEY
FQHAWSYTNG IDMNAVLKGF PECLQADICL HLNRSLLQHC KPFRGATKGC LRALAMKFKT
THAPPGDTLV HAGDLLTALY FISRGSIEIL RGDVVVAILG KNDIFGEPLN LYARPGKSNG
DVRALTYCDL HKIHRDDLLE VLDMYPEFSD HFWSSLEITF NLRDTNMIPG SPGSTELEGG
FSRQRKRKLS FRRRTDKDTE QPGEVSALGP GRAGAGPSSR GRPGGPWGES PSSGPSSPES
SEDEGPGRSS SPLRLVPFSS PRPPGEPPGG EPLMEDCEKS SDTCNPLSGA FSGVSNIFSF
WGDSRGRQYQ ELPRCPAPTP SLLNIPLSSP GRRPRGDVES RLDALQRQLN RLETRLSADM
ATVLQLLQRQ MTLVPPAYSA VTTPGPGPTS TSPLLPVSPL PTLTLDSLSQ VSQFMACEEL
PPGAPELPQE GPTRRLSLPG QLGALTSQPL HRHGSDPGS*

Mutated AA sequence

MAGSCFLCLV DVVPVKNEDG AVIMFILNFE VVMEKDMVGS PAHDTNHRGP PTSWLAPGRA
KTFRLKLPAL LALTARESSV RSGGAGGAGA PGAVVVDVDL TPAAPSSESL ALDEVTAMDN
HVAGLGPAEE RRALVGPGSP PRSAPGQLPS PRAHSLNPDA SGSSCSLART RSRESCASVR
RASSADDIEA MRAGVLPPPP RHASTGAMHP LRSGLLNSTS DSDLVRYRTI SKIPQITLNF
VDLKGDPFLA SPTSDREIIA PKIKERTHNV TEKVTQVLSL GADVLPEYKL QAPRIHRWTI
LHYSPFKAVW DWLILLLVIY TAVFTPYSAA FLLKETEEGP PATECGYACQ PLAVVDLIVD
IMFIVDILIN FRTTYVNANE EVVSHPGRIA VHYFKGWFLI DMVAAIPFDL LIFGSGSEEL
IGLLKTARLL RLVRVARKLD RYSEYGAAVL FLLMCTFALI AHWLACIWYA IGNMEQPHMD
SRIGWLHNLG DQIGKPYNSS GLGGPSIKDK YVTALYFTFS SLTSVGFGNV SPNTNSEKIF
SICVMLIGSL MYASIFGNVS AIIQRLYSGT ARYHTQMLRV REFIRFHQIP NPLRQRLEEY
FQHAWSYTNG IDMNAVLKGF PECLQADICL HLNRSLLQHC KPFRGATKGC LRALAMKFKT
THAPPGDTLV HAGDLLTALY FISRGSIEIL RGDVVVAILG KNDIFGEPLN LYARPGKSNG
DVRALTYCDL HKIHRDDLLE VLDMYPEFSD HFWSSLEITF NLRDTNMIPG SPGSTELEGG
FSRQRKRKLS FRRRTDMDTE QPGEVSALGP GRAGAGPSSR GRPGGPWGES PSSGPSSPES
SEDEGPGRSS SPLRLVPFSS PRPPGEPPGG EPLMEDCEKS SDTCNPLSGA FSGVSNIFSF
WGDSRGRQYQ ELPRCPAPTP SLLNIPLSSP GRRPRGDVES RLDALQRQLN RLETRLSADM
ATVLQLLQRQ MTLVPPAYSA VTTPGPGPTS TSPLLPVSPL PTLTLDSLSQ VSQFMACEEL
PPGAPELPQE GPTRRLSLPG QLGALTSQPL HRHGSDPGS*

Position of stopcodon in wt / mu CDS

3180 / 3180

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

1060 / 1060

Position of stopcodon in wt / mu cDNA

3345 / 3345

Position of start ATG in wt / mu cDNA

166 / 166

Last intron/exon boundary

3195

Theoretical NMD boundary in CDS

2979

Length of CDS

3180

Coding sequence (CDS) position

2390

cDNA position

2555

gDNA position

29876

Chromosomal position

150948446

Speed

0.12 s

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

Back to summary table

MutationT@ster 2025

Variant:

7:150948446T>A_3_ENST00000713710

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Splice site changes

Model: simple_aae
Tree vote: 88|12 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:150948446T>A (GRCh38)

Gene symbol

KCNH2

Gene constraints

no data

Ensembl transcript ID

ENST00000713710.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2624A>T
g.29876A>T

AA changes

AAE:	K875M	?
Score:	95

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1805123
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	3	3

Protein conservation

Species	Match	AA	Alignment
Human		875	K	R	K	L	S	F	R	R	R	T	D	K	D	T	E	Q	P	G	E	V	S	A	L	G
mutated	not conserved	875	K	R	K	L	S	F	R	R	R	T	D	M	D	T	E	Q	P	G	E	V	S	A	L
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)	0.32	0.997
	2.77	1
(flanking)	3.442	1

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Donor weakened	29878	wt: 7.13 / mu: 6.74	-	wt: ACGGACAAGG\|gtgaggcggg mu: ACGGACATGG\|gtgaggcggg

Distance from splice site

3

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

-1

Original gDNA sequence snippet

CTTCCGCAGGCGCACGGACAAGGGTGAGGCGGGGGAGGGGA

Altered gDNA sequence snippet

CTTCCGCAGGCGCACGGACATGGGTGAGGCGGGGGAGGGGA

Original cDNA sequence snippet

CTTCCGCAGGCGCACGGACAAGGACACGGAGCAGCCAGGGG

Altered cDNA sequence snippet

CTTCCGCAGGCGCACGGACATGGACACGGAGCAGCCAGGGG

Wildtype AA sequence

MPVRRGHVAP QNTFLDTIIR KFEGQSRKFI IANARVENCA VIYCNDGFCE LCGYSRAEVM
QRPCTCDFLH GPRTQRRAAA QIAQALLGAE ERKVEIAFYR KDGSCFLCLV DVVPVKNEDG
AVIMFILNFE VVMEKDMVGS PAHDTNHRGP PTSWLAPGRA KTFRLKLPAL LALTARESSV
RSGGAGGAGA PGAVVVDVDL TPAAPSSESL ALDEVTAMDN HVAGLGPAEE RRALVGPGSP
PRSAPGQLPS PRAHSLNPDA SGSSCSLART RSRESCASVR RASSADDIEA MRAGVLPPPP
RHASTGAMHP LRSGLLNSTS DSDLVRYRTI SKIPQITLNF VDLKGDPFLA SPTSDREIIA
PKIKERTHNV TEKVTQVLSL GADVLPEYKL QAPRIHRWTI LHYSPFKAVW DWLILLLVIY
TAVFTPYSAA FLLKETEEGP PATECGYACQ PLAVVDLIVD IMFIVDILIN FRTTYVNANE
EVVSHPGRIA VHYFKGWFLI DMVAAIPFDL LIFGSGSEEL IGLLKTARLL RLVRVARKLD
RYSEYGAAVL FLLMCTFALI AHWLACIWYA IGNMEQPHMD SRIGWLHNLG DQIGKPYNSS
GLGGPSIKDK YVTALYFTFS SLTSVGFGNV SPNTNSEKIF SICVMLIGSR YHTQMLRVRE
FIRFHQIPNP LRQRLEEYFQ HAWSYTNGID MNAVLKGFPE CLQADICLHL NRSLLQHCKP
FRGATKGCLR ALAMKFKTTH APPGDTLVHA GDLLTALYFI SRGSIEILRG DVVVAILGKN
DIFGEPLNLY ARPGKSNGDV RALTYCDLHK IHRDDLLEVL DMYPEFSDHF WSSLEITFNL
RDTNMIPGSP GSTELEGGFS RQRKRKLSFR RRTDKDTEQP GEVSALGPGR AGAGPSSRGR
PGGPWGESPS SGPSSPESSE DEGPGRSSSP LRLVPFSSPR PPGEPPGGEP LMEDCEKSSD
TCNPLSGAFS GVSNIFSFWG DSRGRQYQEL PRCPAPTPSL LNIPLSSPGR RPRGDVESRL
DALQRQLNRL ETRLSADMAT VLQLLQRQMT LVPPAYSAVT TPGPGPTSTS PLLPVSPLPT
LTLDSLSQVS QFMACEELPP GAPELPQEGP TRRLSLPGQL GALTSQPLHR HGSDPGS*

Mutated AA sequence

MPVRRGHVAP QNTFLDTIIR KFEGQSRKFI IANARVENCA VIYCNDGFCE LCGYSRAEVM
QRPCTCDFLH GPRTQRRAAA QIAQALLGAE ERKVEIAFYR KDGSCFLCLV DVVPVKNEDG
AVIMFILNFE VVMEKDMVGS PAHDTNHRGP PTSWLAPGRA KTFRLKLPAL LALTARESSV
RSGGAGGAGA PGAVVVDVDL TPAAPSSESL ALDEVTAMDN HVAGLGPAEE RRALVGPGSP
PRSAPGQLPS PRAHSLNPDA SGSSCSLART RSRESCASVR RASSADDIEA MRAGVLPPPP
RHASTGAMHP LRSGLLNSTS DSDLVRYRTI SKIPQITLNF VDLKGDPFLA SPTSDREIIA
PKIKERTHNV TEKVTQVLSL GADVLPEYKL QAPRIHRWTI LHYSPFKAVW DWLILLLVIY
TAVFTPYSAA FLLKETEEGP PATECGYACQ PLAVVDLIVD IMFIVDILIN FRTTYVNANE
EVVSHPGRIA VHYFKGWFLI DMVAAIPFDL LIFGSGSEEL IGLLKTARLL RLVRVARKLD
RYSEYGAAVL FLLMCTFALI AHWLACIWYA IGNMEQPHMD SRIGWLHNLG DQIGKPYNSS
GLGGPSIKDK YVTALYFTFS SLTSVGFGNV SPNTNSEKIF SICVMLIGSR YHTQMLRVRE
FIRFHQIPNP LRQRLEEYFQ HAWSYTNGID MNAVLKGFPE CLQADICLHL NRSLLQHCKP
FRGATKGCLR ALAMKFKTTH APPGDTLVHA GDLLTALYFI SRGSIEILRG DVVVAILGKN
DIFGEPLNLY ARPGKSNGDV RALTYCDLHK IHRDDLLEVL DMYPEFSDHF WSSLEITFNL
RDTNMIPGSP GSTELEGGFS RQRKRKLSFR RRTDMDTEQP GEVSALGPGR AGAGPSSRGR
PGGPWGESPS SGPSSPESSE DEGPGRSSSP LRLVPFSSPR PPGEPPGGEP LMEDCEKSSD
TCNPLSGAFS GVSNIFSFWG DSRGRQYQEL PRCPAPTPSL LNIPLSSPGR RPRGDVESRL
DALQRQLNRL ETRLSADMAT VLQLLQRQMT LVPPAYSAVT TPGPGPTSTS PLLPVSPLPT
LTLDSLSQVS QFMACEELPP GAPELPQEGP TRRLSLPGQL GALTSQPLHR HGSDPGS*

Position of stopcodon in wt / mu CDS

3414 / 3414

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

1138 / 1138

Position of stopcodon in wt / mu cDNA

3757 / 3757

Position of start ATG in wt / mu cDNA

344 / 344

Last intron/exon boundary

3607

Theoretical NMD boundary in CDS

3213

Length of CDS

3414

Coding sequence (CDS) position

2624

cDNA position

2967

gDNA position

29876

Chromosomal position

150948446

Speed

0.10 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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