MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 2 transcript(s)...
Querying Taster for transcript #1: ENST00000302804
Querying Taster for transcript #2: ENST00000448930
MT speed 0 s - this script 4.48599 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
AURKC	disease_causing_automatic	0.999999327102243	simple_aae		affected	0	C229Y	single base exchange	rs121908654		show file
AURKC	disease_causing_automatic	0.999999327102243	simple_aae		affected	0	C195Y	single base exchange	rs121908654		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999327102243 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM093712)
known disease mutation: rs6307 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:57746353G>AN/A show variant in all transcripts IGV

HGNC symbol

AURKC

Ensembl transcript ID

ENST00000302804

Genbank transcript ID

NM_001015878

UniProt peptide

Q9UQB9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.686G>A
cDNA.875G>A
g.3977G>A

AA changes

C229Y Score: 194 explain score(s)

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

229

frameshift

known variant

Reference ID: rs121908654
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs6307 (pathogenic for Infertility associated with multi-tailed spermatozoa and excessive DNA) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM093712)

known disease mutation at this position, please check HGMD for details (HGMD ID CM093712)
known disease mutation at this position, please check HGMD for details (HGMD ID CM093712)

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.866	1
	4.688	1
(flanking)	1.217	1

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 marginally increased	3983	wt: 0.8892 / mu: 0.9003 (marginal change - not scored)	wt: CATTGGAGTGCTCTGCTATGAGCTGCTGGTGGGATATCCAC mu: CATTGGAGTGCTCTACTATGAGCTGCTGGTGGGATATCCAC	atga\|GCTG
Donor gained	3978	0.36	mu: CTCTACTATGAGCTG	CTAC\|tatg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

229

mutated

not conserved

229

Ptroglodytes

all identical

ENSPTRG00000011547

229

Mmulatta

all identical

ENSMMUG00000000929

229

Fcatus

all identical

ENSFCAG00000002481

227

Mmusculus

all identical

ENSMUSG00000070837

241

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000094491

203

Dmelanogaster

all identical

FBgn0000147

342

Celegans

not conserved

K07C11.2

232

Xtropicalis

all identical

ENSXETG00000009097

196

protein features

start (aa)	end (aa)	feature	details
43	293	DOMAIN	Protein kinase.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

930 / 930

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

310 / 310

position of stopcodon in wt / mu cDNA

1119 / 1119

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

190 / 190

chromosome

strand

last intron/exon boundary

949

theoretical NMD boundary in CDS

709

length of CDS

930

coding sequence (CDS) position

686

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

875

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

3977

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

57746353

original gDNA sequence snippet

GTGGTGCATTGGAGTGCTCTGCTATGAGCTGCTGGTGGGAT

altered gDNA sequence snippet

GTGGTGCATTGGAGTGCTCTACTATGAGCTGCTGGTGGGAT

original cDNA sequence snippet

GTGGTGCATTGGAGTGCTCTGCTATGAGCTGCTGGTGGGAT

altered cDNA sequence snippet

GTGGTGCATTGGAGTGCTCTACTATGAGCTGCTGGTGGGAT

wildtype AA sequence

MSSPRAVVQL GKAQPAGEEL ATANQTAQQP SSPAMRRLTV DDFEIGRPLG KGKFGNVYLA
RLKESHFIVA LKVLFKSQIE KEGLEHQLRR EIEIQAHLQH PNILRLYNYF HDARRVYLIL
EYAPRGELYK ELQKSEKLDE QRTATIIEEL ADALTYCHDK KVIHRDIKPE NLLLGFRGEV
KIADFGWSVH TPSLRRKTMC GTLDYLPPEM IEGRTYDEKV DLWCIGVLCY ELLVGYPPFE
SASHSETYRR ILKVDVRFPL SMPLGARDLI SRLLRYQPLE RLPLAQILKH PWVQAHSRRV
LPPCAQMAS*

mutated AA sequence

MSSPRAVVQL GKAQPAGEEL ATANQTAQQP SSPAMRRLTV DDFEIGRPLG KGKFGNVYLA
RLKESHFIVA LKVLFKSQIE KEGLEHQLRR EIEIQAHLQH PNILRLYNYF HDARRVYLIL
EYAPRGELYK ELQKSEKLDE QRTATIIEEL ADALTYCHDK KVIHRDIKPE NLLLGFRGEV
KIADFGWSVH TPSLRRKTMC GTLDYLPPEM IEGRTYDEKV DLWCIGVLYY ELLVGYPPFE
SASHSETYRR ILKVDVRFPL SMPLGARDLI SRLLRYQPLE RLPLAQILKH PWVQAHSRRV
LPPCAQMAS*

speed

1.26 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

disease causing

Model: simple_aae, prob: 0.999999327102243 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM093712)
known disease mutation: rs6307 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:57746353G>AN/A show variant in all transcripts IGV

HGNC symbol

AURKC

Ensembl transcript ID

ENST00000448930

Genbank transcript ID

NM_003160

UniProt peptide

Q9UQB9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.584G>A
cDNA.739G>A
g.3977G>A

AA changes

C195Y Score: 194 explain score(s)

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

195

frameshift

known variant

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.866	1
	4.688	1
(flanking)	1.217	1

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 marginally increased	3983	wt: 0.8892 / mu: 0.9003 (marginal change - not scored)	wt: CATTGGAGTGCTCTGCTATGAGCTGCTGGTGGGATATCCAC mu: CATTGGAGTGCTCTACTATGAGCTGCTGGTGGGATATCCAC	atga\|GCTG
Donor gained	3978	0.36	mu: CTCTACTATGAGCTG	CTAC\|tatg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

195

mutated

not conserved

195

Ptroglodytes

all identical

ENSPTRG00000011547

229

Mmulatta

all identical

ENSMMUG00000000929

229

Fcatus

all identical

ENSFCAG00000002481

227

Mmusculus

all identical

ENSMUSG00000070837

241

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000094491

203

Dmelanogaster

all identical

FBgn0000147

342

Celegans

not conserved

K07C11.2

232

Xtropicalis

all identical

ENSXETG00000009097

196

protein features

start (aa)	end (aa)	feature	details
43	293	DOMAIN	Protein kinase.	lost
193	195	CONFLICT	SLR -> LPE (in Ref. 2; AAC77369).	lost
198	198	MOD_RES	Phosphothreonine; by PKA (By similarity).	might get lost (downstream of altered splice site)
198	198	MUTAGEN	T->A: Impairs kinase activity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

828 / 828

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

276 / 276

position of stopcodon in wt / mu cDNA

983 / 983

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

156 / 156

chromosome

strand

last intron/exon boundary

813

theoretical NMD boundary in CDS

607

length of CDS

828

coding sequence (CDS) position

584

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

739

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

3977

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

57746353

original gDNA sequence snippet

GTGGTGCATTGGAGTGCTCTGCTATGAGCTGCTGGTGGGAT

altered gDNA sequence snippet

GTGGTGCATTGGAGTGCTCTACTATGAGCTGCTGGTGGGAT

original cDNA sequence snippet

GTGGTGCATTGGAGTGCTCTGCTATGAGCTGCTGGTGGGAT

altered cDNA sequence snippet

GTGGTGCATTGGAGTGCTCTACTATGAGCTGCTGGTGGGAT

wildtype AA sequence

MRRLTVDDFE IGRPLGKGKF GNVYLARLKE SHFIVALKVL FKSQIEKEGL EHQLRREIEI
QAHLQHPNIL RLYNYFHDAR RVYLILEYAP RGELYKELQK SEKLDEQRTA TIIEELADAL
TYCHDKKVIH RDIKPENLLL GFRGEVKIAD FGWSVHTPSL RRKTMCGTLD YLPPEMIEGR
TYDEKVDLWC IGVLCYELLV GYPPFESASH SETYRRILKV DVRFPLSMPL GARDLISRLL
RYQPLERLPL AQILKHPWVQ AHSRRVLPPC AQMAS*

mutated AA sequence

MRRLTVDDFE IGRPLGKGKF GNVYLARLKE SHFIVALKVL FKSQIEKEGL EHQLRREIEI
QAHLQHPNIL RLYNYFHDAR RVYLILEYAP RGELYKELQK SEKLDEQRTA TIIEELADAL
TYCHDKKVIH RDIKPENLLL GFRGEVKIAD FGWSVHTPSL RRKTMCGTLD YLPPEMIEGR
TYDEKVDLWC IGVLYYELLV GYPPFESASH SETYRRILKV DVRFPLSMPL GARDLISRLL
RYQPLERLPL AQILKHPWVQ AHSRRVLPPC AQMAS*

speed

1.28 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems