MutationTaster - study a chromosomal position

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...
found 6 transcript(s)...
Querying Taster for transcript #1: ENST00000399289
Querying Taster for transcript #2: ENST00000399286
Querying Taster for transcript #3: ENST00000416357
Querying Taster for transcript #4: ENST00000399284
Querying Taster for transcript #5: ENST00000337385
Querying Taster for transcript #6: ENST00000432085
MT speed 0 s - this script 3.970996 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
KCNE1	polymorphism_automatic	9.99200722162641e-16	simple_aae		affected		S38G	single base exchange	rs1805127		show file
KCNE1	polymorphism_automatic	9.99200722162641e-16	simple_aae		affected		S38G	single base exchange	rs1805127		show file
KCNE1	polymorphism_automatic	9.99200722162641e-16	simple_aae		affected		S38G	single base exchange	rs1805127		show file
KCNE1	polymorphism_automatic	9.99200722162641e-16	simple_aae		affected		S38G	single base exchange	rs1805127		show file
KCNE1	polymorphism_automatic	9.99200722162641e-16	simple_aae		affected		S38G	single base exchange	rs1805127		show file
KCNE1	polymorphism_automatic	9.99200722162641e-16	simple_aae		affected		S38G	single base exchange	rs1805127		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM062783)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:35821821T>CN/A show variant in all transcripts IGV

HGNC symbol

KCNE1

Ensembl transcript ID

ENST00000399289

Genbank transcript ID

NM_001127669

UniProt peptide

P15382

alteration type

single base exchange

alteration region

CDS

DNA changes

c.112A>G
cDNA.321A>G
g.62753A>G

AA changes

S38G Score: 56 explain score(s)

position(s) of altered AA
if AA alteration in CDS

frameshift

known variant

Reference ID: rs1805127

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1143	1089	2232
ExAC	25542	-18317	7225

known disease mutation at this position, please check HGMD for details (HGMD ID CM062783)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.403	0
	0.016	0
(flanking)	-3.638	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	62749	wt: 0.53 / mu: 0.63	wt: CTGGCCCGCAGGTCCCCCCGCAGCAGTGACGGCAAGCTGGA mu: CTGGCCCGCAGGTCCCCCCGCAGCGGTGACGGCAAGCTGGA	ccgc\|AGCA
Donor marginally increased	62750	wt: 0.9292 / mu: 0.9364 (marginal change - not scored)	wt: CCCGCAGCAGTGACG mu: CCCGCAGCGGTGACG	CGCA\|gcag
Donor gained	62747	0.80	mu: CCCCCCGCAGCGGTG	CCCC\|gcag

distance from splice site

162

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000013880

Mmulatta

not conserved

ENSMMUG00000008680

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000039639

Ggallus

all conserved

ENSGALG00000016012

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000003637

ELF

protein features

start (aa)	end (aa)	feature	details
44	66	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
46	71	HELIX		might get lost (downstream of altered splice site)
67	129	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
69	69	MUTAGEN	K->H: Lowers current 2-fold and leads to faster deactivation of KCNQ1/KCNE1 channel.	might get lost (downstream of altered splice site)
77	81	TURN		might get lost (downstream of altered splice site)
84	86	TURN		might get lost (downstream of altered splice site)
92	105	HELIX		might get lost (downstream of altered splice site)
102	102	MOD_RES	Phosphoserine; by PKC (By similarity).	might get lost (downstream of altered splice site)
114	116	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

390 / 390

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

130 / 130

position of stopcodon in wt / mu cDNA

599 / 599

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

210 / 210

chromosome

strand

-1

last intron/exon boundary

160

theoretical NMD boundary in CDS

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

length of CDS

390

coding sequence (CDS) position

112

cDNA position
(for ins/del: last normal base / first normal base)

321

gDNA position
(for ins/del: last normal base / first normal base)

62753

chromosomal position
(for ins/del: last normal base / first normal base)

35821821

original gDNA sequence snippet

CCCGCAGGTCCCCCCGCAGCAGTGACGGCAAGCTGGAGGCC

altered gDNA sequence snippet

CCCGCAGGTCCCCCCGCAGCGGTGACGGCAAGCTGGAGGCC

original cDNA sequence snippet

CCCGCAGGTCCCCCCGCAGCAGTGACGGCAAGCTGGAGGCC

altered cDNA sequence snippet

CCCGCAGGTCCCCCCGCAGCGGTGACGGCAAGCTGGAGGCC

wildtype AA sequence

MILSNTTAVT PFLTKLWQET VQQGGNMSGL ARRSPRSSDG KLEALYVLMV LGFFGFFTLG
IMLSYIRSKK LEHSNDPFNV YIESDAWQEK DKAYVQARVL ESYRSCYVVE NHLAIEQPNT
HLPETKPSP*

mutated AA sequence

MILSNTTAVT PFLTKLWQET VQQGGNMSGL ARRSPRSGDG KLEALYVLMV LGFFGFFTLG
IMLSYIRSKK LEHSNDPFNV YIESDAWQEK DKAYVQARVL ESYRSCYVVE NHLAIEQPNT
HLPETKPSP*

speed

0.12 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM062783)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:35821821T>CN/A show variant in all transcripts IGV

HGNC symbol

KCNE1

Ensembl transcript ID

ENST00000399286

Genbank transcript ID

N/A

UniProt peptide

P15382

alteration type

single base exchange

alteration region

CDS

DNA changes

c.112A>G
cDNA.737A>G
g.62753A>G

AA changes

S38G Score: 56 explain score(s)

position(s) of altered AA
if AA alteration in CDS

frameshift

known variant

Reference ID: rs1805127

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1143	1089	2232
ExAC	25542	-18317	7225

known disease mutation at this position, please check HGMD for details (HGMD ID CM062783)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.403	0
	0.016	0
(flanking)	-3.638	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	62749	wt: 0.53 / mu: 0.63	wt: CTGGCCCGCAGGTCCCCCCGCAGCAGTGACGGCAAGCTGGA mu: CTGGCCCGCAGGTCCCCCCGCAGCGGTGACGGCAAGCTGGA	ccgc\|AGCA
Donor marginally increased	62750	wt: 0.9292 / mu: 0.9364 (marginal change - not scored)	wt: CCCGCAGCAGTGACG mu: CCCGCAGCGGTGACG	CGCA\|gcag
Donor gained	62747	0.80	mu: CCCCCCGCAGCGGTG	CCCC\|gcag

distance from splice site

162

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000013880

Mmulatta

not conserved

ENSMMUG00000008680

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000039639

Ggallus

all conserved

ENSGALG00000016012

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000003637

ELF

protein features

start (aa)	end (aa)	feature	details
44	66	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
46	71	HELIX		might get lost (downstream of altered splice site)
67	129	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
69	69	MUTAGEN	K->H: Lowers current 2-fold and leads to faster deactivation of KCNQ1/KCNE1 channel.	might get lost (downstream of altered splice site)
77	81	TURN		might get lost (downstream of altered splice site)
84	86	TURN		might get lost (downstream of altered splice site)
92	105	HELIX		might get lost (downstream of altered splice site)
102	102	MOD_RES	Phosphoserine; by PKC (By similarity).	might get lost (downstream of altered splice site)
114	116	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

390 / 390

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

130 / 130

position of stopcodon in wt / mu cDNA

1015 / 1015

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

626 / 626

chromosome

strand

-1

last intron/exon boundary

576

theoretical NMD boundary in CDS

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

length of CDS

390

coding sequence (CDS) position

112

cDNA position
(for ins/del: last normal base / first normal base)

737

gDNA position
(for ins/del: last normal base / first normal base)

62753

chromosomal position
(for ins/del: last normal base / first normal base)

35821821

original gDNA sequence snippet

CCCGCAGGTCCCCCCGCAGCAGTGACGGCAAGCTGGAGGCC

altered gDNA sequence snippet

CCCGCAGGTCCCCCCGCAGCGGTGACGGCAAGCTGGAGGCC

original cDNA sequence snippet

CCCGCAGGTCCCCCCGCAGCAGTGACGGCAAGCTGGAGGCC

altered cDNA sequence snippet

CCCGCAGGTCCCCCCGCAGCGGTGACGGCAAGCTGGAGGCC

wildtype AA sequence

MILSNTTAVT PFLTKLWQET VQQGGNMSGL ARRSPRSSDG KLEALYVLMV LGFFGFFTLG
IMLSYIRSKK LEHSNDPFNV YIESDAWQEK DKAYVQARVL ESYRSCYVVE NHLAIEQPNT
HLPETKPSP*

mutated AA sequence

MILSNTTAVT PFLTKLWQET VQQGGNMSGL ARRSPRSGDG KLEALYVLMV LGFFGFFTLG
IMLSYIRSKK LEHSNDPFNV YIESDAWQEK DKAYVQARVL ESYRSCYVVE NHLAIEQPNT
HLPETKPSP*

speed

0.71 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM062783)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:35821821T>CN/A show variant in all transcripts IGV

HGNC symbol

KCNE1

Ensembl transcript ID

ENST00000416357

Genbank transcript ID

N/A

UniProt peptide

P15382

alteration type

single base exchange

alteration region

CDS

DNA changes

c.112A>G
cDNA.518A>G
g.62753A>G

AA changes

S38G Score: 56 explain score(s)

position(s) of altered AA
if AA alteration in CDS

frameshift

known variant

Reference ID: rs1805127

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1143	1089	2232
ExAC	25542	-18317	7225

known disease mutation at this position, please check HGMD for details (HGMD ID CM062783)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.403	0
	0.016	0
(flanking)	-3.638	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	62749	wt: 0.53 / mu: 0.63	wt: CTGGCCCGCAGGTCCCCCCGCAGCAGTGACGGCAAGCTGGA mu: CTGGCCCGCAGGTCCCCCCGCAGCGGTGACGGCAAGCTGGA	ccgc\|AGCA
Donor marginally increased	62750	wt: 0.9292 / mu: 0.9364 (marginal change - not scored)	wt: CCCGCAGCAGTGACG mu: CCCGCAGCGGTGACG	CGCA\|gcag
Donor gained	62747	0.80	mu: CCCCCCGCAGCGGTG	CCCC\|gcag

distance from splice site

162

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000013880

Mmulatta

not conserved

ENSMMUG00000008680

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000039639

Ggallus

all conserved

ENSGALG00000016012

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000003637

ELF

protein features

start (aa)	end (aa)	feature	details
44	66	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
46	71	HELIX		might get lost (downstream of altered splice site)
67	129	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
69	69	MUTAGEN	K->H: Lowers current 2-fold and leads to faster deactivation of KCNQ1/KCNE1 channel.	might get lost (downstream of altered splice site)
77	81	TURN		might get lost (downstream of altered splice site)
84	86	TURN		might get lost (downstream of altered splice site)
92	105	HELIX		might get lost (downstream of altered splice site)
102	102	MOD_RES	Phosphoserine; by PKC (By similarity).	might get lost (downstream of altered splice site)
114	116	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

390 / 390

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

130 / 130

position of stopcodon in wt / mu cDNA

796 / 796

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

407 / 407

chromosome

strand

-1

last intron/exon boundary

357

theoretical NMD boundary in CDS

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

length of CDS

390

coding sequence (CDS) position

112

cDNA position
(for ins/del: last normal base / first normal base)

518

gDNA position
(for ins/del: last normal base / first normal base)

62753

chromosomal position
(for ins/del: last normal base / first normal base)

35821821

original gDNA sequence snippet

CCCGCAGGTCCCCCCGCAGCAGTGACGGCAAGCTGGAGGCC

altered gDNA sequence snippet

CCCGCAGGTCCCCCCGCAGCGGTGACGGCAAGCTGGAGGCC

original cDNA sequence snippet

CCCGCAGGTCCCCCCGCAGCAGTGACGGCAAGCTGGAGGCC

altered cDNA sequence snippet

CCCGCAGGTCCCCCCGCAGCGGTGACGGCAAGCTGGAGGCC

wildtype AA sequence

MILSNTTAVT PFLTKLWQET VQQGGNMSGL ARRSPRSSDG KLEALYVLMV LGFFGFFTLG
IMLSYIRSKK LEHSNDPFNV YIESDAWQEK DKAYVQARVL ESYRSCYVVE NHLAIEQPNT
HLPETKPSP*

mutated AA sequence

MILSNTTAVT PFLTKLWQET VQQGGNMSGL ARRSPRSGDG KLEALYVLMV LGFFGFFTLG
IMLSYIRSKK LEHSNDPFNV YIESDAWQEK DKAYVQARVL ESYRSCYVVE NHLAIEQPNT
HLPETKPSP*

speed

0.20 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM062783)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:35821821T>CN/A show variant in all transcripts IGV

HGNC symbol

KCNE1

Ensembl transcript ID

ENST00000399284

Genbank transcript ID

N/A

UniProt peptide

P15382

alteration type

single base exchange

alteration region

CDS

DNA changes

c.112A>G
cDNA.388A>G
g.62753A>G

AA changes

S38G Score: 56 explain score(s)

position(s) of altered AA
if AA alteration in CDS

frameshift

known variant

Reference ID: rs1805127

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1143	1089	2232
ExAC	25542	-18317	7225

known disease mutation at this position, please check HGMD for details (HGMD ID CM062783)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.403	0
	0.016	0
(flanking)	-3.638	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	62749	wt: 0.53 / mu: 0.63	wt: CTGGCCCGCAGGTCCCCCCGCAGCAGTGACGGCAAGCTGGA mu: CTGGCCCGCAGGTCCCCCCGCAGCGGTGACGGCAAGCTGGA	ccgc\|AGCA
Donor marginally increased	62750	wt: 0.9292 / mu: 0.9364 (marginal change - not scored)	wt: CCCGCAGCAGTGACG mu: CCCGCAGCGGTGACG	CGCA\|gcag
Donor gained	62747	0.80	mu: CCCCCCGCAGCGGTG	CCCC\|gcag

distance from splice site

162

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000013880

Mmulatta

not conserved

ENSMMUG00000008680

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000039639

Ggallus

all conserved

ENSGALG00000016012

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000003637

ELF

protein features

start (aa)	end (aa)	feature	details
44	66	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
46	71	HELIX		might get lost (downstream of altered splice site)
67	129	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
69	69	MUTAGEN	K->H: Lowers current 2-fold and leads to faster deactivation of KCNQ1/KCNE1 channel.	might get lost (downstream of altered splice site)
77	81	TURN		might get lost (downstream of altered splice site)
84	86	TURN		might get lost (downstream of altered splice site)
92	105	HELIX		might get lost (downstream of altered splice site)
102	102	MOD_RES	Phosphoserine; by PKC (By similarity).	might get lost (downstream of altered splice site)
114	116	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

390 / 390

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

130 / 130

position of stopcodon in wt / mu cDNA

666 / 666

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

277 / 277

chromosome

strand

-1

last intron/exon boundary

227

theoretical NMD boundary in CDS

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

length of CDS

390

coding sequence (CDS) position

112

cDNA position
(for ins/del: last normal base / first normal base)

388

gDNA position
(for ins/del: last normal base / first normal base)

62753

chromosomal position
(for ins/del: last normal base / first normal base)

35821821

original gDNA sequence snippet

CCCGCAGGTCCCCCCGCAGCAGTGACGGCAAGCTGGAGGCC

altered gDNA sequence snippet

CCCGCAGGTCCCCCCGCAGCGGTGACGGCAAGCTGGAGGCC

original cDNA sequence snippet

CCCGCAGGTCCCCCCGCAGCAGTGACGGCAAGCTGGAGGCC

altered cDNA sequence snippet

CCCGCAGGTCCCCCCGCAGCGGTGACGGCAAGCTGGAGGCC

wildtype AA sequence

MILSNTTAVT PFLTKLWQET VQQGGNMSGL ARRSPRSSDG KLEALYVLMV LGFFGFFTLG
IMLSYIRSKK LEHSNDPFNV YIESDAWQEK DKAYVQARVL ESYRSCYVVE NHLAIEQPNT
HLPETKPSP*

mutated AA sequence

MILSNTTAVT PFLTKLWQET VQQGGNMSGL ARRSPRSGDG KLEALYVLMV LGFFGFFTLG
IMLSYIRSKK LEHSNDPFNV YIESDAWQEK DKAYVQARVL ESYRSCYVVE NHLAIEQPNT
HLPETKPSP*

speed

0.14 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM062783)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:35821821T>CN/A show variant in all transcripts IGV

HGNC symbol

KCNE1

Ensembl transcript ID

ENST00000337385

Genbank transcript ID

NM_000219

UniProt peptide

P15382

alteration type

single base exchange

alteration region

CDS

DNA changes

c.112A>G
cDNA.488A>G
g.62753A>G

AA changes

S38G Score: 56 explain score(s)

position(s) of altered AA
if AA alteration in CDS

frameshift

known variant

Reference ID: rs1805127

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1143	1089	2232
ExAC	25542	-18317	7225

known disease mutation at this position, please check HGMD for details (HGMD ID CM062783)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.403	0
	0.016	0
(flanking)	-3.638	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	62749	wt: 0.53 / mu: 0.63	wt: CTGGCCCGCAGGTCCCCCCGCAGCAGTGACGGCAAGCTGGA mu: CTGGCCCGCAGGTCCCCCCGCAGCGGTGACGGCAAGCTGGA	ccgc\|AGCA
Donor marginally increased	62750	wt: 0.9292 / mu: 0.9364 (marginal change - not scored)	wt: CCCGCAGCAGTGACG mu: CCCGCAGCGGTGACG	CGCA\|gcag
Donor gained	62747	0.80	mu: CCCCCCGCAGCGGTG	CCCC\|gcag

distance from splice site

162

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000013880

Mmulatta

not conserved

ENSMMUG00000008680

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000039639

Ggallus

all conserved

ENSGALG00000016012

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000003637

ELF

protein features

start (aa)	end (aa)	feature	details
44	66	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
46	71	HELIX		might get lost (downstream of altered splice site)
67	129	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
69	69	MUTAGEN	K->H: Lowers current 2-fold and leads to faster deactivation of KCNQ1/KCNE1 channel.	might get lost (downstream of altered splice site)
77	81	TURN		might get lost (downstream of altered splice site)
84	86	TURN		might get lost (downstream of altered splice site)
92	105	HELIX		might get lost (downstream of altered splice site)
102	102	MOD_RES	Phosphoserine; by PKC (By similarity).	might get lost (downstream of altered splice site)
114	116	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

390 / 390

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

130 / 130

position of stopcodon in wt / mu cDNA

766 / 766

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

377 / 377

chromosome

strand

-1

last intron/exon boundary

327

theoretical NMD boundary in CDS

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

length of CDS

390

coding sequence (CDS) position

112

cDNA position
(for ins/del: last normal base / first normal base)

488

gDNA position
(for ins/del: last normal base / first normal base)

62753

chromosomal position
(for ins/del: last normal base / first normal base)

35821821

original gDNA sequence snippet

CCCGCAGGTCCCCCCGCAGCAGTGACGGCAAGCTGGAGGCC

altered gDNA sequence snippet

CCCGCAGGTCCCCCCGCAGCGGTGACGGCAAGCTGGAGGCC

original cDNA sequence snippet

CCCGCAGGTCCCCCCGCAGCAGTGACGGCAAGCTGGAGGCC

altered cDNA sequence snippet

CCCGCAGGTCCCCCCGCAGCGGTGACGGCAAGCTGGAGGCC

wildtype AA sequence

MILSNTTAVT PFLTKLWQET VQQGGNMSGL ARRSPRSSDG KLEALYVLMV LGFFGFFTLG
IMLSYIRSKK LEHSNDPFNV YIESDAWQEK DKAYVQARVL ESYRSCYVVE NHLAIEQPNT
HLPETKPSP*

mutated AA sequence

MILSNTTAVT PFLTKLWQET VQQGGNMSGL ARRSPRSGDG KLEALYVLMV LGFFGFFTLG
IMLSYIRSKK LEHSNDPFNV YIESDAWQEK DKAYVQARVL ESYRSCYVVE NHLAIEQPNT
HLPETKPSP*

speed

0.68 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM062783)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:35821821T>CN/A show variant in all transcripts IGV

HGNC symbol

KCNE1

Ensembl transcript ID

ENST00000432085

Genbank transcript ID

NM_001127668

UniProt peptide

P15382

alteration type

single base exchange

alteration region

CDS

DNA changes

c.112A>G
cDNA.349A>G
g.62753A>G

AA changes

S38G Score: 56 explain score(s)

position(s) of altered AA
if AA alteration in CDS

frameshift

known variant

Reference ID: rs1805127

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1143	1089	2232
ExAC	25542	-18317	7225

known disease mutation at this position, please check HGMD for details (HGMD ID CM062783)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.403	0
	0.016	0
(flanking)	-3.638	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	62749	wt: 0.53 / mu: 0.63	wt: CTGGCCCGCAGGTCCCCCCGCAGCAGTGACGGCAAGCTGGA mu: CTGGCCCGCAGGTCCCCCCGCAGCGGTGACGGCAAGCTGGA	ccgc\|AGCA
Donor marginally increased	62750	wt: 0.9292 / mu: 0.9364 (marginal change - not scored)	wt: CCCGCAGCAGTGACG mu: CCCGCAGCGGTGACG	CGCA\|gcag
Donor gained	62747	0.80	mu: CCCCCCGCAGCGGTG	CCCC\|gcag

distance from splice site

162

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000013880

Mmulatta

not conserved

ENSMMUG00000008680

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000039639

Ggallus

all conserved

ENSGALG00000016012

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000003637

ELF

protein features

start (aa)	end (aa)	feature	details
44	66	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
46	71	HELIX		might get lost (downstream of altered splice site)
67	129	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
69	69	MUTAGEN	K->H: Lowers current 2-fold and leads to faster deactivation of KCNQ1/KCNE1 channel.	might get lost (downstream of altered splice site)
77	81	TURN		might get lost (downstream of altered splice site)
84	86	TURN		might get lost (downstream of altered splice site)
92	105	HELIX		might get lost (downstream of altered splice site)
102	102	MOD_RES	Phosphoserine; by PKC (By similarity).	might get lost (downstream of altered splice site)
114	116	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

390 / 390

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

130 / 130

position of stopcodon in wt / mu cDNA

627 / 627

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

238 / 238

chromosome

strand

-1

last intron/exon boundary

188

theoretical NMD boundary in CDS

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

length of CDS

390

coding sequence (CDS) position

112

cDNA position
(for ins/del: last normal base / first normal base)

349

gDNA position
(for ins/del: last normal base / first normal base)

62753

chromosomal position
(for ins/del: last normal base / first normal base)

35821821

original gDNA sequence snippet

CCCGCAGGTCCCCCCGCAGCAGTGACGGCAAGCTGGAGGCC

altered gDNA sequence snippet

CCCGCAGGTCCCCCCGCAGCGGTGACGGCAAGCTGGAGGCC

original cDNA sequence snippet

CCCGCAGGTCCCCCCGCAGCAGTGACGGCAAGCTGGAGGCC

altered cDNA sequence snippet

CCCGCAGGTCCCCCCGCAGCGGTGACGGCAAGCTGGAGGCC

wildtype AA sequence

MILSNTTAVT PFLTKLWQET VQQGGNMSGL ARRSPRSSDG KLEALYVLMV LGFFGFFTLG
IMLSYIRSKK LEHSNDPFNV YIESDAWQEK DKAYVQARVL ESYRSCYVVE NHLAIEQPNT
HLPETKPSP*

mutated AA sequence

MILSNTTAVT PFLTKLWQET VQQGGNMSGL ARRSPRSGDG KLEALYVLMV LGFFGFFTLG
IMLSYIRSKK LEHSNDPFNV YIESDAWQEK DKAYVQARVL ESYRSCYVVE NHLAIEQPNT
HLPETKPSP*

speed

0.16 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems