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: ENST00000391709
Querying Taster for transcript #2: ENST00000330619
MT speed 2.94 s - this script 7.722723 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ZNF470polymorphism_automatic1.0154892780001e-06simple_aaeT418Isingle base exchangers4801177show file
ZNF470polymorphism_automatic1.0154892780001e-06simple_aaeT418Isingle base exchangers4801177show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999998984510722 (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
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:57089050C>TN/A show variant in all transcripts   IGV
HGNC symbol ZNF470
Ensembl transcript ID ENST00000391709
Genbank transcript ID N/A
UniProt peptide Q6ECI4
alteration type single base exchange
alteration region CDS
DNA changes c.1253C>T
cDNA.1930C>T
g.10161C>T
AA changes T418I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS
418
frameshift no
known variant Reference ID: rs4801177
databasehomozygous (T/T)heterozygousallele carriers
1000G15218252346
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.880.995
0.630.991
(flanking)00.951
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 970
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      418TDHIGLIQHKRTHTGERPYKCNVC
mutated  not conserved    418TDHIGLIQHKRIHT
Ptroglodytes  not conserved  ENSPTRG00000022937  365RIHTGERPYKCNV
Mmulatta  not conserved  ENSMMUG00000021674  362SDCSSLAHHRRIHT
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
397419ZN_FINGC2H2-type 7.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2154 / 2154
position (AA) of stopcodon in wt / mu AA sequence 718 / 718
position of stopcodon in wt / mu cDNA 2831 / 2831
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 678 / 678
chromosome 19
strand 1
last intron/exon boundary 961
theoretical NMD boundary in CDS 233
length of CDS 2154
coding sequence (CDS) position 1253
cDNA position
(for ins/del: last normal base / first normal base)
1930
gDNA position
(for ins/del: last normal base / first normal base)
10161
chromosomal position
(for ins/del: last normal base / first normal base)
57089050
original gDNA sequence snippet ACTTATTCAGCATAAGAGAACTCATACTGGAGAGAGACCTT
altered gDNA sequence snippet ACTTATTCAGCATAAGAGAATTCATACTGGAGAGAGACCTT
original cDNA sequence snippet ACTTATTCAGCATAAGAGAACTCATACTGGAGAGAGACCTT
altered cDNA sequence snippet ACTTATTCAGCATAAGAGAATTCATACTGGAGAGAGACCTT
wildtype AA sequence MKSQEEVEVA GIKLCKAMSL GSVTFTDVAI DFSQDEWEWL NLAQRSLYKK VMLENYRNLV
SVGLCISKPD VISLLEQEKD PWVIKGGMNR GLCPDLECVW VTKSLSLNQD IYEEKLPPAI
IMERLKSYDL ECSTLGKNWK CEDLFERELV NQKTHFRQET ITHIDTLIEK RDHSNKSGTV
FHLNTLSYIK QIFPMEERIF NFHTDKKSLK THSVVKKHKQ DRGEKKLLKC NDCEKIFSKI
STLTLHQRIH TGEKPYECIE CGKAFSQSAH LAQHQRIHTG EKPFECTECG KAFSQNAHLV
QHQRVHTGEK PYQCKQCNKA FSQLAHLAQH QRVHTGEKPY ECIECGKAFS DCSSLAHHRR
IHTGKRPYEC IDCGKAFRQN ASLIRHRRYY HTGEKPFDCI DCGKAFTDHI GLIQHKRTHT
GERPYKCNVC GKAFSHGSSL TVHQRIHTGE KPYECNICEK AFSHRGSLTL HQRVHTGEKP
YECKECGKAF RQSTHLAHHQ RIHTGEKPYE CKECSKTFSQ NAHLAQHQKI HTGEKPYECK
ECGKAFSQIA HLVQHQRVHT GEKPYECIEC GKAFSDGSYL VQHQRLHSGK RPYECLECGK
AFRQRASLIC HQRCHTGEKP YECNVCGKAF SHRKSLTLHQ RIHTGEKPYE CKECSKAFSQ
VAHLTLHKRI HTGERPYECK ECGKAFRQSV HLAHHQRIHT GESSVILSSA LPYHQVL*
mutated AA sequence MKSQEEVEVA GIKLCKAMSL GSVTFTDVAI DFSQDEWEWL NLAQRSLYKK VMLENYRNLV
SVGLCISKPD VISLLEQEKD PWVIKGGMNR GLCPDLECVW VTKSLSLNQD IYEEKLPPAI
IMERLKSYDL ECSTLGKNWK CEDLFERELV NQKTHFRQET ITHIDTLIEK RDHSNKSGTV
FHLNTLSYIK QIFPMEERIF NFHTDKKSLK THSVVKKHKQ DRGEKKLLKC NDCEKIFSKI
STLTLHQRIH TGEKPYECIE CGKAFSQSAH LAQHQRIHTG EKPFECTECG KAFSQNAHLV
QHQRVHTGEK PYQCKQCNKA FSQLAHLAQH QRVHTGEKPY ECIECGKAFS DCSSLAHHRR
IHTGKRPYEC IDCGKAFRQN ASLIRHRRYY HTGEKPFDCI DCGKAFTDHI GLIQHKRIHT
GERPYKCNVC GKAFSHGSSL TVHQRIHTGE KPYECNICEK AFSHRGSLTL HQRVHTGEKP
YECKECGKAF RQSTHLAHHQ RIHTGEKPYE CKECSKTFSQ NAHLAQHQKI HTGEKPYECK
ECGKAFSQIA HLVQHQRVHT GEKPYECIEC GKAFSDGSYL VQHQRLHSGK RPYECLECGK
AFRQRASLIC HQRCHTGEKP YECNVCGKAF SHRKSLTLHQ RIHTGEKPYE CKECSKAFSQ
VAHLTLHKRI HTGERPYECK ECGKAFRQSV HLAHHQRIHT GESSVILSSA LPYHQVL*
speed 1.32 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: simple_aae, prob: 0.999998984510722 (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
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:57089050C>TN/A show variant in all transcripts   IGV
HGNC symbol ZNF470
Ensembl transcript ID ENST00000330619
Genbank transcript ID NM_001001668
UniProt peptide Q6ECI4
alteration type single base exchange
alteration region CDS
DNA changes c.1253C>T
cDNA.1924C>T
g.10161C>T
AA changes T418I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS
418
frameshift no
known variant Reference ID: rs4801177
databasehomozygous (T/T)heterozygousallele carriers
1000G15218252346
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.880.995
0.630.991
(flanking)00.951
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 902
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      418TDHIGLIQHKRTHTGERPYKCNVC
mutated  not conserved    418TDHIGLIQHKRIHT
Ptroglodytes  not conserved  ENSPTRG00000022937  365RIHTGERPYKCNV
Mmulatta  not conserved  ENSMMUG00000021674  362SDCSSLAHHRRIHT
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
397419ZN_FINGC2H2-type 7.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2154 / 2154
position (AA) of stopcodon in wt / mu AA sequence 718 / 718
position of stopcodon in wt / mu cDNA 2825 / 2825
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 672 / 672
chromosome 19
strand 1
last intron/exon boundary 955
theoretical NMD boundary in CDS 233
length of CDS 2154
coding sequence (CDS) position 1253
cDNA position
(for ins/del: last normal base / first normal base)
1924
gDNA position
(for ins/del: last normal base / first normal base)
10161
chromosomal position
(for ins/del: last normal base / first normal base)
57089050
original gDNA sequence snippet ACTTATTCAGCATAAGAGAACTCATACTGGAGAGAGACCTT
altered gDNA sequence snippet ACTTATTCAGCATAAGAGAATTCATACTGGAGAGAGACCTT
original cDNA sequence snippet ACTTATTCAGCATAAGAGAACTCATACTGGAGAGAGACCTT
altered cDNA sequence snippet ACTTATTCAGCATAAGAGAATTCATACTGGAGAGAGACCTT
wildtype AA sequence MKSQEEVEVA GIKLCKAMSL GSVTFTDVAI DFSQDEWEWL NLAQRSLYKK VMLENYRNLV
SVGLCISKPD VISLLEQEKD PWVIKGGMNR GLCPDLECVW VTKSLSLNQD IYEEKLPPAI
IMERLKSYDL ECSTLGKNWK CEDLFERELV NQKTHFRQET ITHIDTLIEK RDHSNKSGTV
FHLNTLSYIK QIFPMEERIF NFHTDKKSLK THSVVKKHKQ DRGEKKLLKC NDCEKIFSKI
STLTLHQRIH TGEKPYECIE CGKAFSQSAH LAQHQRIHTG EKPFECTECG KAFSQNAHLV
QHQRVHTGEK PYQCKQCNKA FSQLAHLAQH QRVHTGEKPY ECIECGKAFS DCSSLAHHRR
IHTGKRPYEC IDCGKAFRQN ASLIRHRRYY HTGEKPFDCI DCGKAFTDHI GLIQHKRTHT
GERPYKCNVC GKAFSHGSSL TVHQRIHTGE KPYECNICEK AFSHRGSLTL HQRVHTGEKP
YECKECGKAF RQSTHLAHHQ RIHTGEKPYE CKECSKTFSQ NAHLAQHQKI HTGEKPYECK
ECGKAFSQIA HLVQHQRVHT GEKPYECIEC GKAFSDGSYL VQHQRLHSGK RPYECLECGK
AFRQRASLIC HQRCHTGEKP YECNVCGKAF SHRKSLTLHQ RIHTGEKPYE CKECSKAFSQ
VAHLTLHKRI HTGERPYECK ECGKAFRQSV HLAHHQRIHT GESSVILSSA LPYHQVL*
mutated AA sequence MKSQEEVEVA GIKLCKAMSL GSVTFTDVAI DFSQDEWEWL NLAQRSLYKK VMLENYRNLV
SVGLCISKPD VISLLEQEKD PWVIKGGMNR GLCPDLECVW VTKSLSLNQD IYEEKLPPAI
IMERLKSYDL ECSTLGKNWK CEDLFERELV NQKTHFRQET ITHIDTLIEK RDHSNKSGTV
FHLNTLSYIK QIFPMEERIF NFHTDKKSLK THSVVKKHKQ DRGEKKLLKC NDCEKIFSKI
STLTLHQRIH TGEKPYECIE CGKAFSQSAH LAQHQRIHTG EKPFECTECG KAFSQNAHLV
QHQRVHTGEK PYQCKQCNKA FSQLAHLAQH QRVHTGEKPY ECIECGKAFS DCSSLAHHRR
IHTGKRPYEC IDCGKAFRQN ASLIRHRRYY HTGEKPFDCI DCGKAFTDHI GLIQHKRIHT
GERPYKCNVC GKAFSHGSSL TVHQRIHTGE KPYECNICEK AFSHRGSLTL HQRVHTGEKP
YECKECGKAF RQSTHLAHHQ RIHTGEKPYE CKECSKTFSQ NAHLAQHQKI HTGEKPYECK
ECGKAFSQIA HLVQHQRVHT GEKPYECIEC GKAFSDGSYL VQHQRLHSGK RPYECLECGK
AFRQRASLIC HQRCHTGEKP YECNVCGKAF SHRKSLTLHQ RIHTGEKPYE CKECSKAFSQ
VAHLTLHKRI HTGERPYECK ECGKAFRQSV HLAHHQRIHT GESSVILSSA LPYHQVL*
speed 1.62 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
back to results table

Problems