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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: ENST00000356725
MT speed 0 s - this script 3.191241 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ZNF790polymorphism_automatic6.53043641052342e-07simple_aaeaffectedQ301Rsingle base exchangers3745775show file

Taster files

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Prediction

polymorphism

Model: simple_aae, prob: 0.999999346956359 (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) chr19:37310344T>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF790
Ensembl transcript ID ENST00000356725
Genbank transcript ID NM_001242800
UniProt peptide Q6PG37
alteration type single base exchange
alteration region CDS
DNA changes c.902A>G
cDNA.1023A>G
g.31346A>G
AA changes Q301R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS
301
frameshift no
known variant Reference ID: rs3745775
databasehomozygous (C/C)heterozygousallele carriers
1000G2459651210
ExAC47842319927983
regulatory features Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
ZNF274, Transcription Factor, ZNF274 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0030.609
0.2360.593
(flanking)0.1080.594
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased31339wt: 0.39 / mu: 0.52wt: GTTGTGGCTCAGATCTTACTCGACATCAGAGAATTCATACT
mu: GTTGTGGCTCAGATCTTACTCGACATCGGAGAATTCATACT
 actc|GACA
Donor gained313450.38mu: GACATCGGAGAATTC CATC|ggag
distance from splice site 673
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      301AFSCGSDLTRHQRIHTGEKPYECN
mutated  all conserved    301RRIHTGEKPYEC
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000004337  301QRIHTGEKPYEC
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000011427  299HRIHTGEKPYQC
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 
282304ZN_FINGC2H2-type 4.lost
310332ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
338360ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
366388ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
394416ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
422444ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
450472ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
478500ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
506528ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
534556ZN_FINGC2H2-type 13.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1911 / 1911
position (AA) of stopcodon in wt / mu AA sequence 637 / 637
position of stopcodon in wt / mu cDNA 2032 / 2032
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 122 / 122
chromosome 19
strand -1
last intron/exon boundary 351
theoretical NMD boundary in CDS 179
length of CDS 1911
coding sequence (CDS) position 902
cDNA position
(for ins/del: last normal base / first normal base)
1023
gDNA position
(for ins/del: last normal base / first normal base)
31346
chromosomal position
(for ins/del: last normal base / first normal base)
37310344
original gDNA sequence snippet CTCAGATCTTACTCGACATCAGAGAATTCATACTGGTGAAA
altered gDNA sequence snippet CTCAGATCTTACTCGACATCGGAGAATTCATACTGGTGAAA
original cDNA sequence snippet CTCAGATCTTACTCGACATCAGAGAATTCATACTGGTGAAA
altered cDNA sequence snippet CTCAGATCTTACTCGACATCGGAGAATTCATACTGGTGAAA
wildtype AA sequence MAHLMMFRDV AVDFSQEEWE CLDLEQRDLY RDVMLENYSN MVSLGFCIYQ PEAFSLLEKG
KEPWKILRDE TRGPCPDMQS RCQTKKLLPK NGIFEREIAQ LEIMRICKNH SLDCLCFRGD
WEGNTQFQTL QDNQEECFKQ VIRTCEKRPT FNQHTVFNLH QRLNTGDKLN EFKELGKAFI
SGSDHTQHQL IHTSEKFCGD KECGNTFLPD SEVIQYQTVH TVKKTYECKE CGKSFSLRSS
LTGHKRIHTG EKPFKCKDCG KAFRFHSQLS VHKRIHTGEK SYECKECGKA FSCGSDLTRH
QRIHTGEKPY ECNECRKAFS QRSHLIKHQR IHTGEKPYEC KECGKAFTRG SHLTQHQRIH
TGEKSHECKE CGKAFIRGSN LAQHQNVHVG RKPYKCEKCG KAYIWSSHLA RHQRIHTGRK
PYECKQCGKT FTWASYLAQH EKIHNERKSY ECKECGKTFL HGSEFNRHQK IHTGERNYEC
KECGKTFFRG SELNRHQKIH TGKRPYECEE CGKAFLWGSQ LTRHQRMHTG EEPYVCKECG
KSFIWGSQLT RHKKIHTDAE PYGCKKSSHI FSHHSYFTEQ KIHNSANLCE WTDYGNTFSH
ESNFAQHQNI YTFEKSYEFK DFEKAFSSSS HFISLL*
mutated AA sequence MAHLMMFRDV AVDFSQEEWE CLDLEQRDLY RDVMLENYSN MVSLGFCIYQ PEAFSLLEKG
KEPWKILRDE TRGPCPDMQS RCQTKKLLPK NGIFEREIAQ LEIMRICKNH SLDCLCFRGD
WEGNTQFQTL QDNQEECFKQ VIRTCEKRPT FNQHTVFNLH QRLNTGDKLN EFKELGKAFI
SGSDHTQHQL IHTSEKFCGD KECGNTFLPD SEVIQYQTVH TVKKTYECKE CGKSFSLRSS
LTGHKRIHTG EKPFKCKDCG KAFRFHSQLS VHKRIHTGEK SYECKECGKA FSCGSDLTRH
RRIHTGEKPY ECNECRKAFS QRSHLIKHQR IHTGEKPYEC KECGKAFTRG SHLTQHQRIH
TGEKSHECKE CGKAFIRGSN LAQHQNVHVG RKPYKCEKCG KAYIWSSHLA RHQRIHTGRK
PYECKQCGKT FTWASYLAQH EKIHNERKSY ECKECGKTFL HGSEFNRHQK IHTGERNYEC
KECGKTFFRG SELNRHQKIH TGKRPYECEE CGKAFLWGSQ LTRHQRMHTG EEPYVCKECG
KSFIWGSQLT RHKKIHTDAE PYGCKKSSHI FSHHSYFTEQ KIHNSANLCE WTDYGNTFSH
ESNFAQHQNI YTFEKSYEFK DFEKAFSSSS HFISLL*
speed 1.12 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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