MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000376030
MT speed 0 s - this script 3.103571 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
KAZN	polymorphism_automatic	0.01477892205904	simple_aae		affected		A706T	single base exchange	rs10803354		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.98522107794096 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:15438990G>AN/A show variant in all transcripts IGV

HGNC symbol

KAZN

Ensembl transcript ID

ENST00000376030

Genbank transcript ID

NM_201628

UniProt peptide

Q674X7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2116G>A
cDNA.2410G>A
g.513791G>A

AA changes

A706T Score: 58 explain score(s)

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

706

frameshift

known variant

Reference ID: rs10803354

database	homozygous (A/A)	heterozygous	allele carriers
1000G	540	1134	1674
ExAC	10800	11167	21967

regulatory features

BATF, Transcription Factor, BATF Transcription Factor Binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
IRF4, Transcription Factor, IRF4 Transcription Factor Binding
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
Tcf12, Transcription Factor, Tcf12 Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.639	0.987
	1.083	0.971
(flanking)	1.709	0.904

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	513796	wt: 0.61 / mu: 0.84	wt: GCAGGAAAGGAGGAG mu: ACAGGAAAGGAGGAG	AGGA\|aagg
Donor increased	513794	wt: 0.61 / mu: 0.88	wt: GGGCAGGAAAGGAGG mu: GGACAGGAAAGGAGG	GCAG\|gaaa
Donor increased	513789	wt: 0.73 / mu: 0.85	wt: CACGCGGGCAGGAAA mu: CACGCGGACAGGAAA	CGCG\|ggca
Donor increased	513788	wt: 0.31 / mu: 0.39	wt: TCACGCGGGCAGGAA mu: TCACGCGGACAGGAA	ACGC\|gggc
Donor marginally increased	513793	wt: 0.9965 / mu: 0.9979 (marginal change - not scored)	wt: CGGGCAGGAAAGGAG mu: CGGACAGGAAAGGAG	GGCA\|ggaa
Donor gained	513786	0.34	mu: CGTCACGCGGACAGG	TCAC\|gcgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

706

mutated

not conserved

706

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000023070

688

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000040606

630

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000014464

629

PMLLRQNSL

Drerio

no alignment

ENSDARG00000006601

n/a

Dmelanogaster

no alignment

FBgn0034720

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000013469

n/a

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2328 / 2328

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

776 / 776

position of stopcodon in wt / mu cDNA

2622 / 2622

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

295 / 295

chromosome

strand

last intron/exon boundary

2458

theoretical NMD boundary in CDS

2113

length of CDS

2328

coding sequence (CDS) position

2116

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

2410

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

513791

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

15438990

original gDNA sequence snippet

GGGCCTCCAGCGTCACGCGGGCAGGAAAGGAGGAGAACAGC

altered gDNA sequence snippet

GGGCCTCCAGCGTCACGCGGACAGGAAAGGAGGAGAACAGC

original cDNA sequence snippet

GGGCCTCCAGCGTCACGCGGGCAGGAAAGGAGGAGAACAGC

altered cDNA sequence snippet

GGGCCTCCAGCGTCACGCGGACAGGAAAGGAGGAGAACAGC

wildtype AA sequence

MMEDNKQLAL RIDGAVQSAS QEVTNLRAEL TATNRRLAEL SGGGGPGPGP GAAASASAAG
DSAATNMENP QLGAQVLLRE EVSRLQEEVH LLRQMKEMLA KDLEESQGGK SSEVLSATEL
RVQLAQKEQE LARAKEALQA MKADRKRLKG EKTDLVSQMQ QLYATLESRE EQLRDFIRNY
EQHRKESEDA VKALAKEKDL LEREKWELRR QAKEATDHAT ALRSQLDLKD NRMKELEAEL
AMAKQSLATL TKDVPKRHSL AMPGETVLNG NQEWVVQADL PLTAAIRQSQ QTLYHSHPPH
PADRQAVRVS PCHSRQPSVI SDASAAEGDR SSTPSDINSP RHRTHSLCNG DSPGPVQKNL
HNPIVQSLED LEDQKRKKKK EKMGFGSISR VFARGKQRKS LDPGLFDDSD SQCSPTRQSL
SLSEGEEQMD RLQQVELVRT TPMSHWKAGT VQAWLEVVMA MPMYVKACTE NVKSGKVLLS
LSDEDLQLGL GVCSSLHRRK LRLAIEDYRD AEAGRSLSKA AELDHHWVAK AWLNDIGLSQ
YSQAFQNHLV DGRMLNSLMK RDLEKHLNVS KKFHQVSILL GIELLYQVNF SREALQERRA
RCETQNIDPV VWTNQRVLKW VRDIDLKEYA DNLTNSGVHG AVLVLEPTFN AEAMATALGI
PSGKHILRRH LAEEMSAVFH PANSTGIREA ERFGTPPGRA SSVTRAGKEE NSSGLKYKAG
RLPLGKIGRG FSSKDPDFHD DYGSLQNEDC GDDDPQSRLE QCRLEGYNSL EVTNV*

mutated AA sequence

MMEDNKQLAL RIDGAVQSAS QEVTNLRAEL TATNRRLAEL SGGGGPGPGP GAAASASAAG
DSAATNMENP QLGAQVLLRE EVSRLQEEVH LLRQMKEMLA KDLEESQGGK SSEVLSATEL
RVQLAQKEQE LARAKEALQA MKADRKRLKG EKTDLVSQMQ QLYATLESRE EQLRDFIRNY
EQHRKESEDA VKALAKEKDL LEREKWELRR QAKEATDHAT ALRSQLDLKD NRMKELEAEL
AMAKQSLATL TKDVPKRHSL AMPGETVLNG NQEWVVQADL PLTAAIRQSQ QTLYHSHPPH
PADRQAVRVS PCHSRQPSVI SDASAAEGDR SSTPSDINSP RHRTHSLCNG DSPGPVQKNL
HNPIVQSLED LEDQKRKKKK EKMGFGSISR VFARGKQRKS LDPGLFDDSD SQCSPTRQSL
SLSEGEEQMD RLQQVELVRT TPMSHWKAGT VQAWLEVVMA MPMYVKACTE NVKSGKVLLS
LSDEDLQLGL GVCSSLHRRK LRLAIEDYRD AEAGRSLSKA AELDHHWVAK AWLNDIGLSQ
YSQAFQNHLV DGRMLNSLMK RDLEKHLNVS KKFHQVSILL GIELLYQVNF SREALQERRA
RCETQNIDPV VWTNQRVLKW VRDIDLKEYA DNLTNSGVHG AVLVLEPTFN AEAMATALGI
PSGKHILRRH LAEEMSAVFH PANSTGIREA ERFGTPPGRA SSVTRTGKEE NSSGLKYKAG
RLPLGKIGRG FSSKDPDFHD DYGSLQNEDC GDDDPQSRLE QCRLEGYNSL EVTNV*

speed

1.10 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

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

Problems