Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.979610843949496 (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) chr3:88189341T>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF654
Ensembl transcript ID ENST00000309495
Genbank transcript ID NM_018293
UniProt peptide Q8IZM8
alteration type single base exchange
alteration region CDS
DNA changes c.881T>C
cDNA.1088T>C
g.1088T>C
AA changes I294T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 294
frameshift no
known variant Reference ID: rs7653652
Allele 'C' was neither found in ExAC nor 1000G.
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3580.951
1.4910.966
(flanking)-0.0260.964
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased1085wt: 0.44 / mu: 0.68wt: TCACAGGATATTTCA
mu: TCACAGGACATTTCA		 ACAG|gata
distance from splice site 858
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      294FQLAQHTKSHRIFQAQCSFPECHE
mutated  not conserved    294FQLAQHTKSHRTFQAQCS
Ptroglodytes  all identical  ENSPTRG00000030181  294FQLAQHTKSHRIFQAQCS
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000047141  292FQLAQHTKSHRIFQAQCS
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000079350  1396MELSEHVLVHLPLRAMCCFPGCS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
268292ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
294294CONFLICTI -> T (in Ref. 1; AAN40504 and 2; BAA91946).lost
297321ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
548548CONFLICTK -> E (in Ref. 2; BAB15007).might get lost (downstream of altered splice site)
576576MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
580580MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1746 / 1746
position (AA) of stopcodon in wt / mu AA sequence 582 / 582
position of stopcodon in wt / mu cDNA 1953 / 1953
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 208 / 208
chromosome 3
strand 1
last intron/exon boundary 1946
theoretical NMD boundary in CDS 1688
length of CDS 1746
coding sequence (CDS) position 881
cDNA position
(for ins/del: last normal base / first normal base)		 1088
gDNA position
(for ins/del: last normal base / first normal base)		 1088
chromosomal position
(for ins/del: last normal base / first normal base)		 88189341
original gDNA sequence snippet GCACACAAAAAGTCACAGGATATTTCAGGCTCAGTGTAGTT
altered gDNA sequence snippet GCACACAAAAAGTCACAGGACATTTCAGGCTCAGTGTAGTT
original cDNA sequence snippet GCACACAAAAAGTCACAGGATATTTCAGGCTCAGTGTAGTT
altered cDNA sequence snippet GCACACAAAAAGTCACAGGACATTTCAGGCTCAGTGTAGTT
wildtype AA sequence MLCNKEFLGG HIVRHAQAHQ KKGSFACVIC GRKFRNRGLM QKHLKNHVKK IQRQQIAAAQ
QDDQEVTALE EINCSSSSIS FENGNSDSKD LEVETLTASS EGNKEVIPEH VAEFIEIPIS
VPEDVIENVI ENGSPNNSLN NVFKPLTECG DDYEEEEDEE GDYEEDDYDL NQETSVIHKI
NGTVCHPKDI YATDQEGNFK CPALGCVRIF KRIGFLNKHA MTVHPTDLNV RQTVMKWSKG
KCKFCQRQFE DSQHFIDHLN RHSYPNVYFC LHFNCNESFK LPFQLAQHTK SHRIFQAQCS
FPECHELFED LPLLYEHEAQ HYLSKTPESS AQPSETILWD VQTDSNPNQE KDSSSNEKQT
ISLPVSTSKS RKESTEPKTC IESMEKKTDS LVQNGNERSD DTVSNISLID QKMPDIEPNS
ENNCSSSDIV NGHSEIEQTP LVSSDPALKI DTNRIRTENG SILPSVVPQE HNTLPVSQAP
SKPNLTSEHT SYGLILTKPY VRPLPPSYLD ERYLSMPKRR KFLTDRVDAC SDQDNVYKKS
VKRLRCGKCL TTYCNAEALE AHLAQKKCQT LFGFDSDDES A*
mutated AA sequence MLCNKEFLGG HIVRHAQAHQ KKGSFACVIC GRKFRNRGLM QKHLKNHVKK IQRQQIAAAQ
QDDQEVTALE EINCSSSSIS FENGNSDSKD LEVETLTASS EGNKEVIPEH VAEFIEIPIS
VPEDVIENVI ENGSPNNSLN NVFKPLTECG DDYEEEEDEE GDYEEDDYDL NQETSVIHKI
NGTVCHPKDI YATDQEGNFK CPALGCVRIF KRIGFLNKHA MTVHPTDLNV RQTVMKWSKG
KCKFCQRQFE DSQHFIDHLN RHSYPNVYFC LHFNCNESFK LPFQLAQHTK SHRTFQAQCS
FPECHELFED LPLLYEHEAQ HYLSKTPESS AQPSETILWD VQTDSNPNQE KDSSSNEKQT
ISLPVSTSKS RKESTEPKTC IESMEKKTDS LVQNGNERSD DTVSNISLID QKMPDIEPNS
ENNCSSSDIV NGHSEIEQTP LVSSDPALKI DTNRIRTENG SILPSVVPQE HNTLPVSQAP
SKPNLTSEHT SYGLILTKPY VRPLPPSYLD ERYLSMPKRR KFLTDRVDAC SDQDNVYKKS
VKRLRCGKCL TTYCNAEALE AHLAQKKCQT LFGFDSDDES A*
speed 0.73 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