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MutationTaster - study a chromosomal position

MTQE documentation
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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: ENST00000300060
MT speed 0.62 s - this script 4.251995 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ANPEPpolymorphism_automatic9.13832198801146e-09simple_aaeaffectedS752Nsingle base exchangers25651show file

Taster files

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Prediction

polymorphism

Model: simple_aae, prob: 0.999999990861678 (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) chr15:90335788C>TN/A show variant in all transcripts   IGV
HGNC symbol ANPEP
Ensembl transcript ID ENST00000300060
Genbank transcript ID NM_001150
UniProt peptide P15144
alteration type single base exchange
alteration region CDS
DNA changes c.2255G>A
cDNA.2569G>A
g.22846G>A
AA changes S752N Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS
752
frameshift no
known variant Reference ID: rs25651
databasehomozygous (T/T)heterozygousallele carriers
1000G35510461401
ExAC61782041126589
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2150.407
-0.1230.418
(flanking)1.710.956
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased22850wt: 0.73 / mu: 0.91wt: AGCGAGGTTAATGCC
mu: AACGAGGTTAATGCC
 CGAG|gtta
Donor increased22844wt: 0.27 / mu: 0.46wt: AGGTACAGCGAGGTT
mu: AGGTACAACGAGGTT
 GTAC|agcg
Donor increased22839wt: 0.47 / mu: 0.61wt: GGGGCAGGTACAGCG
mu: GGGGCAGGTACAACG
 GGCA|ggta
Donor increased22849wt: 0.36 / mu: 0.48wt: CAGCGAGGTTAATGC
mu: CAACGAGGTTAATGC
 GCGA|ggtt
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      752REIPENLMDQYSEVNAISTACSNG
mutated  all conserved    752REIPENLMDQYNEVNAISTACSN
Ptroglodytes  all conserved  ENSPTRG00000007441  752REIPENLMDQYNEVNAISTACSN
Mmulatta  all conserved  ENSMMUG00000014983  753REIPENLMDQYNEINAISTACSN
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000039062  751VNRPPTLMEQYNEINAISTACSS
Ggallus  no homologue    
Trubripes  all conserved  ENSTRUG00000006327  757TTVPVGHMDQYTQVNTLSLACRT
Drerio  no alignment  ENSDARG00000091231  n/a
Dmelanogaster  not conserved  FBgn0039640  786QDESEDILVKLKRADILSMACHL
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
33967TOPO_DOMExtracellular.lost
69967REGIONMetalloprotease.lost
818818CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
818818MUTAGENN->E: Very low receptor activity and HCoV-229E infection.might get lost (downstream of altered splice site)
887887CONFLICTL -> P (in Ref. 1; CAA31640).might get lost (downstream of altered splice site)
913913MOD_RESSulfotyrosine (Potential).might get lost (downstream of altered splice site)
928928MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2904 / 2904
position (AA) of stopcodon in wt / mu AA sequence 968 / 968
position of stopcodon in wt / mu cDNA 3218 / 3218
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 315 / 315
chromosome 15
strand -1
last intron/exon boundary 3066
theoretical NMD boundary in CDS 2701
length of CDS 2904
coding sequence (CDS) position 2255
cDNA position
(for ins/del: last normal base / first normal base)
2569
gDNA position
(for ins/del: last normal base / first normal base)
22846
chromosomal position
(for ins/del: last normal base / first normal base)
90335788
original gDNA sequence snippet TCACCCCTGGGGCAGGTACAGCGAGGTTAATGCCATCAGCA
altered gDNA sequence snippet TCACCCCTGGGGCAGGTACAACGAGGTTAATGCCATCAGCA
original cDNA sequence snippet AAACCTGATGGACCAGTACAGCGAGGTTAATGCCATCAGCA
altered cDNA sequence snippet AAACCTGATGGACCAGTACAACGAGGTTAATGCCATCAGCA
wildtype AA sequence MAKGFYISKS LGILGILLGV AAVCTIIALS VVYSQEKNKN ANSSPVASTT PSASATTNPA
SATTLDQSKA WNRYRLPNTL KPDSYRVTLR PYLTPNDRGL YVFKGSSTVR FTCKEATDVI
IIHSKKLNYT LSQGHRVVLR GVGGSQPPDI DKTELVEPTE YLVVHLKGSL VKDSQYEMDS
EFEGELADDL AGFYRSEYME GNVRKVVATT QMQAADARKS FPCFDEPAMK AEFNITLIHP
KDLTALSNML PKGPSTPLPE DPNWNVTEFH TTPKMSTYLL AFIVSEFDYV EKQASNGVLI
RIWARPSAIA AGHGDYALNV TGPILNFFAG HYDTPYPLPK SDQIGLPDFN AGAMENWGLV
TYRENSLLFD PLSSSSSNKE RVVTVIAHEL AHQWFGNLVT IEWWNDLWLN EGFASYVEYL
GADYAEPTWN LKDLMVLNDV YRVMAVDALA SSHPLSTPAS EINTPAQISE LFDAISYSKG
ASVLRMLSSF LSEDVFKQGL ASYLHTFAYQ NTIYLNLWDH LQEAVNNRSI QLPTTVRDIM
NRWTLQMGFP VITVDTSTGT LSQEHFLLDP DSNVTRPSEF NYVWIVPITS IRDGRQQQDY
WLIDVRAQND LFSTSGNEWV LLNLNVTGYY RVNYDEENWR KIQTQLQRDH SAIPVINRAQ
IINDAFNLAS AHKVPVTLAL NNTLFLIEER QYMPWEAALS SLSYFKLMFD RSEVYGPMKN
YLKKQVTPLF IHFRNNTNNW REIPENLMDQ YSEVNAISTA CSNGVPECEE MVSGLFKQWM
ENPNNNPIHP NLRSTVYCNA IAQGGEEEWD FAWEQFRNAT LVNEADKLRA ALACSKELWI
LNRYLSYTLN PDLIRKQDAT STIISITNNV IGQGLVWDFV QSNWKKLFND YGGGSFSFSN
LIQAVTRRFS TEYELQQLEQ FKKDNEETGF GSGTRALEQA LEKTKANIKW VKENKEVVLQ
WFTENSK*
mutated AA sequence MAKGFYISKS LGILGILLGV AAVCTIIALS VVYSQEKNKN ANSSPVASTT PSASATTNPA
SATTLDQSKA WNRYRLPNTL KPDSYRVTLR PYLTPNDRGL YVFKGSSTVR FTCKEATDVI
IIHSKKLNYT LSQGHRVVLR GVGGSQPPDI DKTELVEPTE YLVVHLKGSL VKDSQYEMDS
EFEGELADDL AGFYRSEYME GNVRKVVATT QMQAADARKS FPCFDEPAMK AEFNITLIHP
KDLTALSNML PKGPSTPLPE DPNWNVTEFH TTPKMSTYLL AFIVSEFDYV EKQASNGVLI
RIWARPSAIA AGHGDYALNV TGPILNFFAG HYDTPYPLPK SDQIGLPDFN AGAMENWGLV
TYRENSLLFD PLSSSSSNKE RVVTVIAHEL AHQWFGNLVT IEWWNDLWLN EGFASYVEYL
GADYAEPTWN LKDLMVLNDV YRVMAVDALA SSHPLSTPAS EINTPAQISE LFDAISYSKG
ASVLRMLSSF LSEDVFKQGL ASYLHTFAYQ NTIYLNLWDH LQEAVNNRSI QLPTTVRDIM
NRWTLQMGFP VITVDTSTGT LSQEHFLLDP DSNVTRPSEF NYVWIVPITS IRDGRQQQDY
WLIDVRAQND LFSTSGNEWV LLNLNVTGYY RVNYDEENWR KIQTQLQRDH SAIPVINRAQ
IINDAFNLAS AHKVPVTLAL NNTLFLIEER QYMPWEAALS SLSYFKLMFD RSEVYGPMKN
YLKKQVTPLF IHFRNNTNNW REIPENLMDQ YNEVNAISTA CSNGVPECEE MVSGLFKQWM
ENPNNNPIHP NLRSTVYCNA IAQGGEEEWD FAWEQFRNAT LVNEADKLRA ALACSKELWI
LNRYLSYTLN PDLIRKQDAT STIISITNNV IGQGLVWDFV QSNWKKLFND YGGGSFSFSN
LIQAVTRRFS TEYELQQLEQ FKKDNEETGF GSGTRALEQA LEKTKANIKW VKENKEVVLQ
WFTENSK*
speed 0.62 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
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Problems