Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
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 2 transcript(s)...
Querying Taster for transcript #1: ENST00000334586
Querying Taster for transcript #2: ENST00000392503
MT speed 0 s - this script 3.510105 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ZACNpolymorphism_automatic1.50515694640196e-05simple_aaeaffectedA152Tsingle base exchangers2257020show file
ZACNpolymorphism_automatic0.999999999999241without_aaeaffectedsingle base exchangers2257020show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999984948430536 (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) chr17:74076415G>AN/A show variant in all transcripts   IGV
HGNC symbol ZACN
Ensembl transcript ID ENST00000334586
Genbank transcript ID NM_180990
UniProt peptide Q401N2
alteration type single base exchange
alteration region CDS
DNA changes c.454G>A
cDNA.537G>A
g.8374G>A
AA changes A152T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 152
frameshift no
known variant Reference ID: rs2257020
databasehomozygous (A/A)heterozygousallele carriers
1000G94011502090
ExAC22373-1197910394
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1150.969
1.3390.986
(flanking)1.9550.988
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased8380wt: 0.4083 / mu: 0.4350 (marginal change - not scored)wt: TCAACCTGGCCCTCGCCACGGAGACCAACTGCAACTTTGAG
mu: TCAACCTGGCCCTCACCACGGAGACCAACTGCAACTTTGAG		 acgg|AGAC
Donor increased8378wt: 0.40 / mu: 0.72wt: CGCCACGGAGACCAA
mu: CACCACGGAGACCAA		 CCAC|ggag
Donor increased8379wt: 0.26 / mu: 0.47wt: GCCACGGAGACCAAC
mu: ACCACGGAGACCAAC		 CACG|gaga
Donor increased8376wt: 0.55 / mu: 0.81wt: CTCGCCACGGAGACC
mu: CTCACCACGGAGACC		 CGCC|acgg
distance from splice site 80
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      152QDGHVKLNLALATETNCNFELLHF
mutated  not conserved    152QDGHVKLNLALTTETNCNFELLH
Ptroglodytes  not conserved  ENSPTRG00000009672  152QDGHVKLNLALTTETNCNFELLH
Mmulatta  not conserved  ENSMMUG00000008883  152QDGHVKLNLALTTETNCNFELLH
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000088469  141VEGTVDHAVILFIAVSCDINLFT
Dmelanogaster  not conserved  FBgn0031261  167HDGHFRWMPPAVYTAYCELNMLN
Celegans  not conserved  K03B8.9  171KGAELSFLYPAIYTITCRLNIRF
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
26233TOPO_DOMExtracellular (Potential).lost
157157DISULFIDBy similarity.might get lost (downstream of altered splice site)
170170CARBOHYDN-linked (GlcNAc...) (Potential). /FTId=PRO_5000052473.might get lost (downstream of altered splice site)
171171DISULFIDBy similarity.might get lost (downstream of altered splice site)
224318COMPBIASLeu-rich.might get lost (downstream of altered splice site)
234254TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
255265TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
266286TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
287298TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
299319TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
320368TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
369389TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
390412TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1239 / 1239
position (AA) of stopcodon in wt / mu AA sequence 413 / 413
position of stopcodon in wt / mu cDNA 1322 / 1322
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 84 / 84
chromosome 17
strand 1
last intron/exon boundary 1132
theoretical NMD boundary in CDS 998
length of CDS 1239
coding sequence (CDS) position 454
cDNA position
(for ins/del: last normal base / first normal base)		 537
gDNA position
(for ins/del: last normal base / first normal base)		 8374
chromosomal position
(for ins/del: last normal base / first normal base)		 74076415
original gDNA sequence snippet TGAAGCTCAACCTGGCCCTCGCCACGGAGACCAACTGCAAC
altered gDNA sequence snippet TGAAGCTCAACCTGGCCCTCACCACGGAGACCAACTGCAAC
original cDNA sequence snippet TGAAGCTCAACCTGGCCCTCGCCACGGAGACCAACTGCAAC
altered cDNA sequence snippet TGAAGCTCAACCTGGCCCTCACCACGGAGACCAACTGCAAC
wildtype AA sequence MMALWSLLHL TFLGFSITLL LVHGQGFQGT AAIWPSLFNV NLSKKVQESI QIPNNGSAPL
LVDVRVFVSN VFNVDILRYT MSSMLLLRLS WLDTRLAWNT SAHPRHAITL PWESLWTPRL
TILEALWVDW RDQSPQARVD QDGHVKLNLA LATETNCNFE LLHFPRDHSN CSLSFYALSN
TAMELEFQAH VVNEIVSVKR EYVVYDLKTQ VPPQQLVPCF QVTLRLKNTA LKSIIALLVP
AEALLLADVC GGLLPLRAIE RIGYKVTLLL SYLVLHSSLV QALPSSSSCN PLLIYYFTIL
LLLLFLSTIE TVLLAGLLAR GNLGAKSGPS PAPRGEQREH GNPGPHPAEE PSRGVKGSQR
SWPETADRIF FLVYVVGVLC TQFVFAGIWM WAACKSDAAP GEAAPHGRRP RL*
mutated AA sequence MMALWSLLHL TFLGFSITLL LVHGQGFQGT AAIWPSLFNV NLSKKVQESI QIPNNGSAPL
LVDVRVFVSN VFNVDILRYT MSSMLLLRLS WLDTRLAWNT SAHPRHAITL PWESLWTPRL
TILEALWVDW RDQSPQARVD QDGHVKLNLA LTTETNCNFE LLHFPRDHSN CSLSFYALSN
TAMELEFQAH VVNEIVSVKR EYVVYDLKTQ VPPQQLVPCF QVTLRLKNTA LKSIIALLVP
AEALLLADVC GGLLPLRAIE RIGYKVTLLL SYLVLHSSLV QALPSSSSCN PLLIYYFTIL
LLLLFLSTIE TVLLAGLLAR GNLGAKSGPS PAPRGEQREH GNPGPHPAEE PSRGVKGSQR
SWPETADRIF FLVYVVGVLC TQFVFAGIWM WAACKSDAAP GEAAPHGRRP RL*
speed 0.85 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 7.59114647580872e-13 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr17:74076415G>AN/A show variant in all transcripts   IGV
HGNC symbol ZACN
Ensembl transcript ID ENST00000392503
Genbank transcript ID N/A
UniProt peptide Q401N2
alteration type single base exchange
alteration region intron
DNA changes g.8374G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2257020
databasehomozygous (A/A)heterozygousallele carriers
1000G94011502090
ExAC22373-1197910394
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1150.969
1.3390.986
(flanking)1.9550.988
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased8380wt: 0.4083 / mu: 0.4350 (marginal change - not scored)wt: TCAACCTGGCCCTCGCCACGGAGACCAACTGCAACTTTGAG
mu: TCAACCTGGCCCTCACCACGGAGACCAACTGCAACTTTGAG		 acgg|AGAC
Donor increased8378wt: 0.40 / mu: 0.72wt: CGCCACGGAGACCAA
mu: CACCACGGAGACCAA		 CCAC|ggag
Donor increased8379wt: 0.26 / mu: 0.47wt: GCCACGGAGACCAAC
mu: ACCACGGAGACCAAC		 CACG|gaga
Donor increased8376wt: 0.55 / mu: 0.81wt: CTCGCCACGGAGACC
mu: CTCACCACGGAGACC		 CGCC|acgg
distance from splice site 406
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
26233TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
9999CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
157157DISULFIDBy similarity.might get lost (downstream of altered splice site)
170170CARBOHYDN-linked (GlcNAc...) (Potential). /FTId=PRO_5000052473.might get lost (downstream of altered splice site)
171171DISULFIDBy similarity.might get lost (downstream of altered splice site)
224318COMPBIASLeu-rich.might get lost (downstream of altered splice site)
234254TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
255265TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
266286TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
287298TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
299319TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
320368TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
369389TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
390412TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 84 / 84
chromosome 17
strand 1
last intron/exon boundary 306
theoretical NMD boundary in CDS 172
length of CDS 381
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 8374
chromosomal position
(for ins/del: last normal base / first normal base)		 74076415
original gDNA sequence snippet TGAAGCTCAACCTGGCCCTCGCCACGGAGACCAACTGCAAC
altered gDNA sequence snippet TGAAGCTCAACCTGGCCCTCACCACGGAGACCAACTGCAAC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MMALWSLLHL TFLGFSITLL LVHGQGFQGT AAIWPSLFNV NLSKKVQESI QIPNNGSAPL
LVDVRVFVSN VFNVSSVLPR ATALHSHGDC SGSAPCSKAR GSGCHGLTPG NHLKVQPPCI
NPSGDI*
mutated AA sequence N/A
speed 0.66 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

Problems