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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000341426
Querying Taster for transcript #2: ENST00000341991
Querying Taster for transcript #3: ENST00000378625
Querying Taster for transcript #4: ENST00000344463
Querying Taster for transcript #5: ENST00000342348
MT speed 0 s - this script 4.366076 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
NADK	polymorphism_automatic	0.032646959294395	simple_aae		affected		N262K	single base exchange	rs4751		show file
NADK	polymorphism_automatic	0.032646959294395	simple_aae		affected		N262K	single base exchange	rs4751		show file
NADK	polymorphism_automatic	0.032646959294395	simple_aae		affected		N230K	single base exchange	rs4751		show file
NADK	polymorphism_automatic	0.132585115011034	simple_aae		affected		N407K	single base exchange	rs4751		show file
NADK	polymorphism_automatic	0.132585115011034	simple_aae		affected		N407K	single base exchange	rs4751		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.967353040705605 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:1686040G>TN/A show variant in all transcripts IGV

HGNC symbol

NADK

Ensembl transcript ID

ENST00000341426

Genbank transcript ID

NM_023018

UniProt peptide

O95544

alteration type

single base exchange

alteration region

CDS

DNA changes

c.786C>A
cDNA.1008C>A
g.25857C>A

AA changes

N262K Score: 94 explain score(s)

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

262

frameshift

known variant

Reference ID: rs4751

database	homozygous (T/T)	heterozygous	allele carriers
1000G	211	827	1038
ExAC	8394	15979	24373

regulatory features

PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.243	0.05
	-0.422	0.046
(flanking)	2.622	0.881

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
Donor increased	25851	wt: 0.41 / mu: 0.57	wt: CTGGGTGAGAACGGC mu: CTGGGTGAGAAAGGC	GGGT\|gaga
Donor gained	25857	0.79	mu: GAGAAAGGCTCGCAG	GAAA\|ggct
Donor gained	25853	0.94	mu: GGGTGAGAAAGGCTC	GTGA\|gaaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

262

mutated

not conserved

262

Ptroglodytes

all identical

ENSPTRG00000000038

262

Mmulatta

no alignment

ENSMMUG00000010879

n/a

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000029063

263

Ggallus

all identical

ENSGALG00000001359

261

Trubripes

no homologue

Drerio

all identical

ENSDARG00000076525

141

Dmelanogaster

not conserved

FBgn0053156

298

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000019605

263

protein features

start (aa)	end (aa)	feature	details
277	289	STRAND		might get lost (downstream of altered splice site)
299	303	STRAND		might get lost (downstream of altered splice site)
306	311	STRAND		might get lost (downstream of altered splice site)
313	319	STRAND		might get lost (downstream of altered splice site)
321	325	HELIX		might get lost (downstream of altered splice site)
326	333	COMPBIAS	Poly-Ala.	might get lost (downstream of altered splice site)
327	330	HELIX		might get lost (downstream of altered splice site)
343	349	STRAND		might get lost (downstream of altered splice site)
358	360	STRAND		might get lost (downstream of altered splice site)
366	370	STRAND		might get lost (downstream of altered splice site)
378	382	STRAND		might get lost (downstream of altered splice site)
385	390	STRAND		might get lost (downstream of altered splice site)
395	400	STRAND		might get lost (downstream of altered splice site)
405	408	STRAND		might get lost (downstream of altered splice site)
413	424	HELIX		might get lost (downstream of altered splice site)
437	445	COMPBIAS	Poly-Glu.	might get lost (downstream of altered splice site)
445	445	CONFLICT	E -> EE (in Ref. 2; BAB14412).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1341 / 1341

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

447 / 447

position of stopcodon in wt / mu cDNA

1563 / 1563

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

223 / 223

chromosome

strand

-1

last intron/exon boundary

1407

theoretical NMD boundary in CDS

1134

length of CDS

1341

coding sequence (CDS) position

786

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

1008

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

25857

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

1686040

original gDNA sequence snippet

CACAATGGGCTGGGTGAGAACGGCTCGCAGGCTGCAGGCCT

altered gDNA sequence snippet

CACAATGGGCTGGGTGAGAAAGGCTCGCAGGCTGCAGGCCT

original cDNA sequence snippet

CACAATGGGCTGGGTGAGAACGGCTCGCAGGCTGCAGGCCT

altered cDNA sequence snippet

CACAATGGGCTGGGTGAGAAAGGCTCGCAGGCTGCAGGCCT

wildtype AA sequence

MEMEQEKMTM NKELSPDAAA YCCSACHGDE TWSYNHPIRG RAKSRSLSAS PALGSTKEFR
RTRSLHGPCP VTTFGPKACV LQNPQTIMHI QDPASQRLTW NKSPKSVLVI KKMRDASLLQ
PFKELCTHLM EENMIVYVEK KVLEDPAIAS DESFGAVKKK FCTFREDYDD ISNQIDFIIC
LGGDGTLLYA SSLFQGSVPP VMAFHLGSLG FLTPFSFENF QSQVTQVIEG NAAVVLRSRL
KVRVVKELRG KKTAVHNGLG ENGSQAAGLD MDVGKQAMQY QVLNEVVIDR GPSSYLSNVD
VYLDGHLITT VQGDGVIVST PTGSTAYAAA AGASMIHPNV PAIMITPICP HSLSFRPIVV
PAGVELKIML SPEARNTAWV SFDGRKRQEI RHGDSISITT SCYPLPSICV RDPVSDWFES
LAQCLHWNVR KKQAHFEEEE EEEEEG*

mutated AA sequence

MEMEQEKMTM NKELSPDAAA YCCSACHGDE TWSYNHPIRG RAKSRSLSAS PALGSTKEFR
RTRSLHGPCP VTTFGPKACV LQNPQTIMHI QDPASQRLTW NKSPKSVLVI KKMRDASLLQ
PFKELCTHLM EENMIVYVEK KVLEDPAIAS DESFGAVKKK FCTFREDYDD ISNQIDFIIC
LGGDGTLLYA SSLFQGSVPP VMAFHLGSLG FLTPFSFENF QSQVTQVIEG NAAVVLRSRL
KVRVVKELRG KKTAVHNGLG EKGSQAAGLD MDVGKQAMQY QVLNEVVIDR GPSSYLSNVD
VYLDGHLITT VQGDGVIVST PTGSTAYAAA AGASMIHPNV PAIMITPICP HSLSFRPIVV
PAGVELKIML SPEARNTAWV SFDGRKRQEI RHGDSISITT SCYPLPSICV RDPVSDWFES
LAQCLHWNVR KKQAHFEEEE EEEEEG*

speed

0.63 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: 0.967353040705605 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:1686040G>TN/A show variant in all transcripts IGV

HGNC symbol

NADK

Ensembl transcript ID

ENST00000341991

Genbank transcript ID

NM_001198993

UniProt peptide

O95544

alteration type

single base exchange

alteration region

CDS

DNA changes

c.786C>A
cDNA.871C>A
g.25857C>A

AA changes

N262K Score: 94 explain score(s)

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

262

frameshift

known variant

Reference ID: rs4751

database	homozygous (T/T)	heterozygous	allele carriers
1000G	211	827	1038
ExAC	8394	15979	24373

regulatory features

PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.243	0.05
	-0.422	0.046
(flanking)	2.622	0.881

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
Donor increased	25851	wt: 0.41 / mu: 0.57	wt: CTGGGTGAGAACGGC mu: CTGGGTGAGAAAGGC	GGGT\|gaga
Donor gained	25857	0.79	mu: GAGAAAGGCTCGCAG	GAAA\|ggct
Donor gained	25853	0.94	mu: GGGTGAGAAAGGCTC	GTGA\|gaaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

262

mutated

not conserved

262

Ptroglodytes

all identical

ENSPTRG00000000038

262

Mmulatta

no alignment

ENSMMUG00000010879

n/a

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000029063

263

Ggallus

all identical

ENSGALG00000001359

261

Trubripes

no homologue

Drerio

all identical

ENSDARG00000076525

141

Dmelanogaster

not conserved

FBgn0053156

298

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000019605

263

protein features

start (aa)	end (aa)	feature	details
277	289	STRAND		might get lost (downstream of altered splice site)
299	303	STRAND		might get lost (downstream of altered splice site)
306	311	STRAND		might get lost (downstream of altered splice site)
313	319	STRAND		might get lost (downstream of altered splice site)
321	325	HELIX		might get lost (downstream of altered splice site)
326	333	COMPBIAS	Poly-Ala.	might get lost (downstream of altered splice site)
327	330	HELIX		might get lost (downstream of altered splice site)
343	349	STRAND		might get lost (downstream of altered splice site)
358	360	STRAND		might get lost (downstream of altered splice site)
366	370	STRAND		might get lost (downstream of altered splice site)
378	382	STRAND		might get lost (downstream of altered splice site)
385	390	STRAND		might get lost (downstream of altered splice site)
395	400	STRAND		might get lost (downstream of altered splice site)
405	408	STRAND		might get lost (downstream of altered splice site)
413	424	HELIX		might get lost (downstream of altered splice site)
437	445	COMPBIAS	Poly-Glu.	might get lost (downstream of altered splice site)
445	445	CONFLICT	E -> EE (in Ref. 2; BAB14412).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1341 / 1341

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

447 / 447

position of stopcodon in wt / mu cDNA

1426 / 1426

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

86 / 86

chromosome

strand

-1

last intron/exon boundary

1270

theoretical NMD boundary in CDS

1134

length of CDS

1341

coding sequence (CDS) position

786

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

871

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

25857

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

1686040

original gDNA sequence snippet

CACAATGGGCTGGGTGAGAACGGCTCGCAGGCTGCAGGCCT

altered gDNA sequence snippet

CACAATGGGCTGGGTGAGAAAGGCTCGCAGGCTGCAGGCCT

original cDNA sequence snippet

CACAATGGGCTGGGTGAGAACGGCTCGCAGGCTGCAGGCCT

altered cDNA sequence snippet

CACAATGGGCTGGGTGAGAAAGGCTCGCAGGCTGCAGGCCT

wildtype AA sequence

mutated AA sequence

MEMEQEKMTM NKELSPDAAA YCCSACHGDE TWSYNHPIRG RAKSRSLSAS PALGSTKEFR
RTRSLHGPCP VTTFGPKACV LQNPQTIMHI QDPASQRLTW NKSPKSVLVI KKMRDASLLQ
PFKELCTHLM EENMIVYVEK KVLEDPAIAS DESFGAVKKK FCTFREDYDD ISNQIDFIIC
LGGDGTLLYA SSLFQGSVPP VMAFHLGSLG FLTPFSFENF QSQVTQVIEG NAAVVLRSRL
KVRVVKELRG KKTAVHNGLG EKGSQAAGLD MDVGKQAMQY QVLNEVVIDR GPSSYLSNVD
VYLDGHLITT VQGDGVIVST PTGSTAYAAA AGASMIHPNV PAIMITPICP HSLSFRPIVV
PAGVELKIML SPEARNTAWV SFDGRKRQEI RHGDSISITT SCYPLPSICV RDPVSDWFES
LAQCLHWNVR KKQAHFEEEE EEEEEG*

speed

1.07 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.967353040705605 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:1686040G>TN/A show variant in all transcripts IGV

HGNC symbol

NADK

Ensembl transcript ID

ENST00000342348

Genbank transcript ID

NM_001198995

UniProt peptide

O95544

alteration type

single base exchange

alteration region

CDS

DNA changes

c.690C>A
cDNA.801C>A
g.25857C>A

AA changes

N230K Score: 94 explain score(s)

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

230

frameshift

known variant

Reference ID: rs4751

database	homozygous (T/T)	heterozygous	allele carriers
1000G	211	827	1038
ExAC	8394	15979	24373

regulatory features

PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.243	0.05
	-0.422	0.046
(flanking)	2.622	0.881

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
Donor increased	25851	wt: 0.41 / mu: 0.57	wt: CTGGGTGAGAACGGC mu: CTGGGTGAGAAAGGC	GGGT\|gaga
Donor gained	25857	0.79	mu: GAGAAAGGCTCGCAG	GAAA\|ggct
Donor gained	25853	0.94	mu: GGGTGAGAAAGGCTC	GTGA\|gaaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

230

mutated

not conserved

230

Ptroglodytes

all identical

ENSPTRG00000000038

262

Mmulatta

no alignment

ENSMMUG00000010879

n/a

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000029063

263

Ggallus

all identical

ENSGALG00000001359

261

Trubripes

no homologue

Drerio

all identical

ENSDARG00000076525

141

Dmelanogaster

not conserved

FBgn0053156

290

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000019605

263

protein features

start (aa)	end (aa)	feature	details
220	229	HELIX		might get lost (downstream of altered splice site)
233	237	STRAND		might get lost (downstream of altered splice site)
240	245	STRAND		might get lost (downstream of altered splice site)
277	289	STRAND		might get lost (downstream of altered splice site)
299	303	STRAND		might get lost (downstream of altered splice site)
306	311	STRAND		might get lost (downstream of altered splice site)
313	319	STRAND		might get lost (downstream of altered splice site)
321	325	HELIX		might get lost (downstream of altered splice site)
326	333	COMPBIAS	Poly-Ala.	might get lost (downstream of altered splice site)
327	330	HELIX		might get lost (downstream of altered splice site)
343	349	STRAND		might get lost (downstream of altered splice site)
358	360	STRAND		might get lost (downstream of altered splice site)
366	370	STRAND		might get lost (downstream of altered splice site)
378	382	STRAND		might get lost (downstream of altered splice site)
385	390	STRAND		might get lost (downstream of altered splice site)
395	400	STRAND		might get lost (downstream of altered splice site)
405	408	STRAND		might get lost (downstream of altered splice site)
413	424	HELIX		might get lost (downstream of altered splice site)
437	445	COMPBIAS	Poly-Glu.	might get lost (downstream of altered splice site)
445	445	CONFLICT	E -> EE (in Ref. 2; BAB14412).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1245 / 1245

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

415 / 415

position of stopcodon in wt / mu cDNA

1356 / 1356

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

112 / 112

chromosome

strand

-1

last intron/exon boundary

1200

theoretical NMD boundary in CDS

1038

length of CDS

1245

coding sequence (CDS) position

690

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

801

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

25857

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

1686040

original gDNA sequence snippet

CACAATGGGCTGGGTGAGAACGGCTCGCAGGCTGCAGGCCT

altered gDNA sequence snippet

CACAATGGGCTGGGTGAGAAAGGCTCGCAGGCTGCAGGCCT

original cDNA sequence snippet

CACAATGGGCTGGGTGAGAACGGCTCGCAGGCTGCAGGCCT

altered cDNA sequence snippet

CACAATGGGCTGGGTGAGAAAGGCTCGCAGGCTGCAGGCCT

wildtype AA sequence

MGRPRVRQAW PGCCGHTGRL PAGRGYLASH MCDPAGAELI GDGMSDPTPP SNACTGHIQD
PASQRLTWNK SPKSVLVIKK MRDASLLQPF KELCTHLMEE NMIVYVEKKV LEDPAIASDE
SFGAVKKKFC TFREDYDDIS NQIDFIICLG GDGTLLYASS LFQGSVPPVM AFHLGSLGFL
TPFSFENFQS QVTQVIEGNA AVVLRSRLKV RVVKELRGKK TAVHNGLGEN GSQAAGLDMD
VGKQAMQYQV LNEVVIDRGP SSYLSNVDVY LDGHLITTVQ GDGVIVSTPT GSTAYAAAAG
ASMIHPNVPA IMITPICPHS LSFRPIVVPA GVELKIMLSP EARNTAWVSF DGRKRQEIRH
GDSISITTSC YPLPSICVRD PVSDWFESLA QCLHWNVRKK QAHFEEEEEE EEEG*

mutated AA sequence

MGRPRVRQAW PGCCGHTGRL PAGRGYLASH MCDPAGAELI GDGMSDPTPP SNACTGHIQD
PASQRLTWNK SPKSVLVIKK MRDASLLQPF KELCTHLMEE NMIVYVEKKV LEDPAIASDE
SFGAVKKKFC TFREDYDDIS NQIDFIICLG GDGTLLYASS LFQGSVPPVM AFHLGSLGFL
TPFSFENFQS QVTQVIEGNA AVVLRSRLKV RVVKELRGKK TAVHNGLGEK GSQAAGLDMD
VGKQAMQYQV LNEVVIDRGP SSYLSNVDVY LDGHLITTVQ GDGVIVSTPT GSTAYAAAAG
ASMIHPNVPA IMITPICPHS LSFRPIVVPA GVELKIMLSP EARNTAWVSF DGRKRQEIRH
GDSISITTSC YPLPSICVRD PVSDWFESLA QCLHWNVRKK QAHFEEEEEE EEEG*

speed

0.63 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.867414884988966 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:1686040G>TN/A show variant in all transcripts IGV

HGNC symbol

NADK

Ensembl transcript ID

ENST00000378625

Genbank transcript ID

NM_001198994

UniProt peptide

O95544

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1221C>A
cDNA.1426C>A
g.25857C>A

AA changes

N407K Score: 94 explain score(s)

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

407

frameshift

known variant

Reference ID: rs4751

database	homozygous (T/T)	heterozygous	allele carriers
1000G	211	827	1038
ExAC	8394	15979	24373

regulatory features

PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.243	0.05
	-0.422	0.046
(flanking)	2.622	0.881

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
Donor increased	25851	wt: 0.41 / mu: 0.57	wt: CTGGGTGAGAACGGC mu: CTGGGTGAGAAAGGC	GGGT\|gaga
Donor gained	25857	0.79	mu: GAGAAAGGCTCGCAG	GAAA\|ggct
Donor gained	25853	0.94	mu: GGGTGAGAAAGGCTC	GTGA\|gaaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

407

mutated

not conserved

407

Ptroglodytes

all identical

ENSPTRG00000000038

262

Mmulatta

no alignment

ENSMMUG00000010879

n/a

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000029063

263

Ggallus

all identical

ENSGALG00000001359

261

Trubripes

no homologue

Drerio

all identical

ENSDARG00000076525

141

Dmelanogaster

not conserved

FBgn0053156

298

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000019605

263

protein features

start (aa)	end (aa)	feature	details
405	408	STRAND		lost
413	424	HELIX		might get lost (downstream of altered splice site)
437	445	COMPBIAS	Poly-Glu.	might get lost (downstream of altered splice site)
445	445	CONFLICT	E -> EE (in Ref. 2; BAB14412).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1776 / 1776

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

592 / 592

position of stopcodon in wt / mu cDNA

1981 / 1981

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

206 / 206

chromosome

strand

-1

last intron/exon boundary

1825

theoretical NMD boundary in CDS

1569

length of CDS

1776

coding sequence (CDS) position

1221

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

1426

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

25857

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

1686040

original gDNA sequence snippet

CACAATGGGCTGGGTGAGAACGGCTCGCAGGCTGCAGGCCT

altered gDNA sequence snippet

CACAATGGGCTGGGTGAGAAAGGCTCGCAGGCTGCAGGCCT

original cDNA sequence snippet

CACAATGGGCTGGGTGAGAACGGCTCGCAGGCTGCAGGCCT

altered cDNA sequence snippet

CACAATGGGCTGGGTGAGAAAGGCTCGCAGGCTGCAGGCCT

wildtype AA sequence

MEMEQEKMTM NKELSPDAAA YCCSACHGDE TWSYNHPIRG RAKSRSLSAS PALGSTKEFR
RTRSLHGPCP VTTFGPKACV LQNPQTIIAT PLSLASQLLP SPAVSHSGQG GVTGQVHVLP
QPSDQGVLSG PRAARGQTAP QEEAVTQEEV EALVCGHTQR WVPGPVYDAA AGGSGWAQLS
LRAGMGVGQA TGHIQDPASQ RLTWNKSPKS VLVIKKMRDA SLLQPFKELC THLMEARGAG
GKGAWGAHGV GGASIHITAP RVGSAGGMSR LALCFQENMI VYVEKKVLED PAIASDESFG
AVKKKFCTFR EDYDDISNQI DFIICLGGDG TLLYASSLFQ GSVPPVMAFH LGSLGFLTPF
SFENFQSQVT QVIEGNAAVV LRSRLKVRVV KELRGKKTAV HNGLGENGSQ AAGLDMDVGK
QAMQYQVLNE VVIDRGPSSY LSNVDVYLDG HLITTVQGDG VIVSTPTGST AYAAAAGASM
IHPNVPAIMI TPICPHSLSF RPIVVPAGVE LKIMLSPEAR NTAWVSFDGR KRQEIRHGDS
ISITTSCYPL PSICVRDPVS DWFESLAQCL HWNVRKKQAH FEEEEEEEEE G*

mutated AA sequence

MEMEQEKMTM NKELSPDAAA YCCSACHGDE TWSYNHPIRG RAKSRSLSAS PALGSTKEFR
RTRSLHGPCP VTTFGPKACV LQNPQTIIAT PLSLASQLLP SPAVSHSGQG GVTGQVHVLP
QPSDQGVLSG PRAARGQTAP QEEAVTQEEV EALVCGHTQR WVPGPVYDAA AGGSGWAQLS
LRAGMGVGQA TGHIQDPASQ RLTWNKSPKS VLVIKKMRDA SLLQPFKELC THLMEARGAG
GKGAWGAHGV GGASIHITAP RVGSAGGMSR LALCFQENMI VYVEKKVLED PAIASDESFG
AVKKKFCTFR EDYDDISNQI DFIICLGGDG TLLYASSLFQ GSVPPVMAFH LGSLGFLTPF
SFENFQSQVT QVIEGNAAVV LRSRLKVRVV KELRGKKTAV HNGLGEKGSQ AAGLDMDVGK
QAMQYQVLNE VVIDRGPSSY LSNVDVYLDG HLITTVQGDG VIVSTPTGST AYAAAAGASM
IHPNVPAIMI TPICPHSLSF RPIVVPAGVE LKIMLSPEAR NTAWVSFDGR KRQEIRHGDS
ISITTSCYPL PSICVRDPVS DWFESLAQCL HWNVRKKQAH FEEEEEEEEE G*

speed

1.00 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.867414884988966 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:1686040G>TN/A show variant in all transcripts IGV

HGNC symbol

NADK

Ensembl transcript ID

ENST00000344463

Genbank transcript ID

N/A

UniProt peptide

O95544

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1221C>A
cDNA.1443C>A
g.25857C>A

AA changes

N407K Score: 94 explain score(s)

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

407

frameshift

known variant

Reference ID: rs4751

database	homozygous (T/T)	heterozygous	allele carriers
1000G	211	827	1038
ExAC	8394	15979	24373

regulatory features

PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.243	0.05
	-0.422	0.046
(flanking)	2.622	0.881

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
Donor increased	25851	wt: 0.41 / mu: 0.57	wt: CTGGGTGAGAACGGC mu: CTGGGTGAGAAAGGC	GGGT\|gaga
Donor gained	25857	0.79	mu: GAGAAAGGCTCGCAG	GAAA\|ggct
Donor gained	25853	0.94	mu: GGGTGAGAAAGGCTC	GTGA\|gaaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

407

mutated

not conserved

407

Ptroglodytes

all identical

ENSPTRG00000000038

262

Mmulatta

no alignment

ENSMMUG00000010879

n/a

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000029063

263

Ggallus

all identical

ENSGALG00000001359

261

Trubripes

no homologue

Drerio

all identical

ENSDARG00000076525

141

Dmelanogaster

not conserved

FBgn0053156

298

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000019605

263

protein features

start (aa)	end (aa)	feature	details
405	408	STRAND		lost
413	424	HELIX		might get lost (downstream of altered splice site)
437	445	COMPBIAS	Poly-Glu.	might get lost (downstream of altered splice site)
445	445	CONFLICT	E -> EE (in Ref. 2; BAB14412).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1776 / 1776

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

592 / 592

position of stopcodon in wt / mu cDNA

1998 / 1998

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

223 / 223

chromosome

strand

-1

last intron/exon boundary

1842

theoretical NMD boundary in CDS

1569

length of CDS

1776

coding sequence (CDS) position

1221

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

1443

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

25857

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

1686040

original gDNA sequence snippet

CACAATGGGCTGGGTGAGAACGGCTCGCAGGCTGCAGGCCT

altered gDNA sequence snippet

CACAATGGGCTGGGTGAGAAAGGCTCGCAGGCTGCAGGCCT

original cDNA sequence snippet

CACAATGGGCTGGGTGAGAACGGCTCGCAGGCTGCAGGCCT

altered cDNA sequence snippet

CACAATGGGCTGGGTGAGAAAGGCTCGCAGGCTGCAGGCCT

wildtype AA sequence

mutated AA sequence

MEMEQEKMTM NKELSPDAAA YCCSACHGDE TWSYNHPIRG RAKSRSLSAS PALGSTKEFR
RTRSLHGPCP VTTFGPKACV LQNPQTIIAT PLSLASQLLP SPAVSHSGQG GVTGQVHVLP
QPSDQGVLSG PRAARGQTAP QEEAVTQEEV EALVCGHTQR WVPGPVYDAA AGGSGWAQLS
LRAGMGVGQA TGHIQDPASQ RLTWNKSPKS VLVIKKMRDA SLLQPFKELC THLMEARGAG
GKGAWGAHGV GGASIHITAP RVGSAGGMSR LALCFQENMI VYVEKKVLED PAIASDESFG
AVKKKFCTFR EDYDDISNQI DFIICLGGDG TLLYASSLFQ GSVPPVMAFH LGSLGFLTPF
SFENFQSQVT QVIEGNAAVV LRSRLKVRVV KELRGKKTAV HNGLGEKGSQ AAGLDMDVGK
QAMQYQVLNE VVIDRGPSSY LSNVDVYLDG HLITTVQGDG VIVSTPTGST AYAAAAGASM
IHPNVPAIMI TPICPHSLSF RPIVVPAGVE LKIMLSPEAR NTAWVSFDGR KRQEIRHGDS
ISITTSCYPL PSICVRDPVS DWFESLAQCL HWNVRKKQAH FEEEEEEEEE G*

speed

0.46 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

Problems