Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.992406787562133 (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) chr19:38189440T>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF607
Ensembl transcript ID ENST00000355202
Genbank transcript ID NM_032689
UniProt peptide Q96SK3
alteration type single base exchange
alteration region CDS
DNA changes c.1592A>G
cDNA.2188A>G
g.21252A>G
AA changes K531R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 531
frameshift no
known variant Reference ID: rs958305
databasehomozygous (C/C)heterozygousallele carriers
1000G92310631986
ExAC32318-31869449
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
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
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1810.998
1.3081
(flanking)3.571
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained212460.45mu: CAGTGGTAAGAGACC GTGG|taag
distance from splice site 1357
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      531LTQHLSIHSGKKPFECNKCGKSFR
mutated  all conserved    531LTQHLSIHSGKRPFECNKCGK
Ptroglodytes  all identical  ENSPTRG00000023903  531LTQHLSIHSGKKPFECNKCGK
Mmulatta  all identical  ENSMMUG00000001930  531LTQHLSIHSGKKPFECNKCGK
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 
533555ZN_FINGC2H2-type 15.might get lost (downstream of altered splice site)
561583ZN_FINGC2H2-type 16.might get lost (downstream of altered splice site)
589611ZN_FINGC2H2-type 17.might get lost (downstream of altered splice site)
617639ZN_FINGC2H2-type 18.might get lost (downstream of altered splice site)
645667ZN_FINGC2H2-type 19.might get lost (downstream of altered splice site)
653654CONFLICTAF -> GL (in Ref. 3; AAH14850).might get lost (downstream of altered splice site)
673695ZN_FINGC2H2-type 20.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2091 / 2091
position (AA) of stopcodon in wt / mu AA sequence 697 / 697
position of stopcodon in wt / mu cDNA 2687 / 2687
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 597 / 597
chromosome 19
strand -1
last intron/exon boundary 832
theoretical NMD boundary in CDS 185
length of CDS 2091
coding sequence (CDS) position 1592
cDNA position
(for ins/del: last normal base / first normal base)		 2188
gDNA position
(for ins/del: last normal base / first normal base)		 21252
chromosomal position
(for ins/del: last normal base / first normal base)		 38189440
original gDNA sequence snippet GAGTATTCACAGTGGTAAGAAACCCTTTGAATGCAACAAAT
altered gDNA sequence snippet GAGTATTCACAGTGGTAAGAGACCCTTTGAATGCAACAAAT
original cDNA sequence snippet GAGTATTCACAGTGGTAAGAAACCCTTTGAATGCAACAAAT
altered cDNA sequence snippet GAGTATTCACAGTGGTAAGAGACCCTTTGAATGCAACAAAT
wildtype AA sequence MSYGSITFGD VAIDFSHQEW EYLSLVQKTL YQEVMMENYD NLVSLAGHSV SKPDLITLLE
QGKEPWMIVR EETRGECTDL DSRCEIISDG KMQLYRKHSC VTLHQRIHNG QKPYECKQCQ
KSFSHLTELM VHQTIHTSEE PDQCEKFRKA FSHLTDLRKH QKINAREKPY ECEECGKVFS
YPANLAQHGK VHVEKPYECK ECGEAFRTSR QLTVHHRFHY GEKPYECKEC GKAFSVYGRL
SRHQSIHTGE KPFECNKCGK SFRLKAGLKV HQSIHTGEKP HECKECGKAF RQFSHLVGHK
RIHTGEKPYE CKECGKGFTC RYQLTMHQRI YSGEKHYECK ENGEAFSSGH QLTAPHTFES
VEKPYKCEEC GKAFSVHGRL TRHQGIHSGK KPYECNKCGK SFRLNSSLKI HQNIHTGEKP
YKCKECGKAF SQRAHLAHHN RIHTGYKPFE CKECGKSFRC ASYLVIHERI HTGEKPYVCQ
ECGKGFSYSH KLTIHRRVHT GEKPYECKEC GKAFSVSGQL TQHLSIHSGK KPFECNKCGK
SFRFISVLKA HQNIHSAEKP YECKECGKAF RHATSLIYHD RTHAGEKSYE CKECGETFSH
ASHLIIHERI HTSDKPYECK RCGKAFHCAS YLVRHESVHA DGNPYMCEEC GKAFNSSHEL
SIHHRVHTGE KPFKCNKCRR SFRLRSILEV HQRIHI*
mutated AA sequence MSYGSITFGD VAIDFSHQEW EYLSLVQKTL YQEVMMENYD NLVSLAGHSV SKPDLITLLE
QGKEPWMIVR EETRGECTDL DSRCEIISDG KMQLYRKHSC VTLHQRIHNG QKPYECKQCQ
KSFSHLTELM VHQTIHTSEE PDQCEKFRKA FSHLTDLRKH QKINAREKPY ECEECGKVFS
YPANLAQHGK VHVEKPYECK ECGEAFRTSR QLTVHHRFHY GEKPYECKEC GKAFSVYGRL
SRHQSIHTGE KPFECNKCGK SFRLKAGLKV HQSIHTGEKP HECKECGKAF RQFSHLVGHK
RIHTGEKPYE CKECGKGFTC RYQLTMHQRI YSGEKHYECK ENGEAFSSGH QLTAPHTFES
VEKPYKCEEC GKAFSVHGRL TRHQGIHSGK KPYECNKCGK SFRLNSSLKI HQNIHTGEKP
YKCKECGKAF SQRAHLAHHN RIHTGYKPFE CKECGKSFRC ASYLVIHERI HTGEKPYVCQ
ECGKGFSYSH KLTIHRRVHT GEKPYECKEC GKAFSVSGQL TQHLSIHSGK RPFECNKCGK
SFRFISVLKA HQNIHSAEKP YECKECGKAF RHATSLIYHD RTHAGEKSYE CKECGETFSH
ASHLIIHERI HTSDKPYECK RCGKAFHCAS YLVRHESVHA DGNPYMCEEC GKAFNSSHEL
SIHHRVHTGE KPFKCNKCRR SFRLRSILEV HQRIHI*
speed 0.10 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