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 ENST00000395835
Genbank transcript ID NM_001172677
UniProt peptide Q96SK3
alteration type single base exchange
alteration region CDS
DNA changes c.1589A>G
cDNA.1837A>G
g.21252A>G
AA changes K530R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 530
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      530LTQHLSIHSGKKPFECNKCGKSFR
mutated  all conserved    530LTQHLSIHSGKRPFECNKCGKS
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 2088 / 2088
position (AA) of stopcodon in wt / mu AA sequence 696 / 696
position of stopcodon in wt / mu cDNA 2336 / 2336
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 249 / 249
chromosome 19
strand -1
last intron/exon boundary 481
theoretical NMD boundary in CDS 182
length of CDS 2088
coding sequence (CDS) position 1589
cDNA position
(for ins/del: last normal base / first normal base)		 1837
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 NLVSLGHSVS KPDLITLLEQ
GKEPWMIVRE ETRGECTDLD SRCEIISDGK MQLYRKHSCV TLHQRIHNGQ KPYECKQCQK
SFSHLTELMV HQTIHTSEEP DQCEKFRKAF SHLTDLRKHQ KINAREKPYE CEECGKVFSY
PANLAQHGKV HVEKPYECKE CGEAFRTSRQ LTVHHRFHYG EKPYECKECG KAFSVYGRLS
RHQSIHTGEK PFECNKCGKS FRLKAGLKVH QSIHTGEKPH ECKECGKAFR QFSHLVGHKR
IHTGEKPYEC KECGKGFTCR YQLTMHQRIY SGEKHYECKE NGEAFSSGHQ LTAPHTFESV
EKPYKCEECG KAFSVHGRLT RHQGIHSGKK PYECNKCGKS FRLNSSLKIH QNIHTGEKPY
KCKECGKAFS QRAHLAHHNR IHTGYKPFEC KECGKSFRCA SYLVIHERIH TGEKPYVCQE
CGKGFSYSHK LTIHRRVHTG EKPYECKECG KAFSVSGQLT QHLSIHSGKK PFECNKCGKS
FRFISVLKAH QNIHSAEKPY ECKECGKAFR HATSLIYHDR THAGEKSYEC KECGETFSHA
SHLIIHERIH TSDKPYECKR CGKAFHCASY LVRHESVHAD GNPYMCEECG KAFNSSHELS
IHHRVHTGEK PFKCNKCRRS FRLRSILEVH QRIHI*
mutated AA sequence MSYGSITFGD VAIDFSHQEW EYLSLVQKTL YQEVMMENYD NLVSLGHSVS KPDLITLLEQ
GKEPWMIVRE ETRGECTDLD SRCEIISDGK MQLYRKHSCV TLHQRIHNGQ KPYECKQCQK
SFSHLTELMV HQTIHTSEEP DQCEKFRKAF SHLTDLRKHQ KINAREKPYE CEECGKVFSY
PANLAQHGKV HVEKPYECKE CGEAFRTSRQ LTVHHRFHYG EKPYECKECG KAFSVYGRLS
RHQSIHTGEK PFECNKCGKS FRLKAGLKVH QSIHTGEKPH ECKECGKAFR QFSHLVGHKR
IHTGEKPYEC KECGKGFTCR YQLTMHQRIY SGEKHYECKE NGEAFSSGHQ LTAPHTFESV
EKPYKCEECG KAFSVHGRLT RHQGIHSGKK PYECNKCGKS FRLNSSLKIH QNIHTGEKPY
KCKECGKAFS QRAHLAHHNR IHTGYKPFEC KECGKSFRCA SYLVIHERIH TGEKPYVCQE
CGKGFSYSHK LTIHRRVHTG EKPYECKECG KAFSVSGQLT QHLSIHSGKR PFECNKCGKS
FRFISVLKAH QNIHSAEKPY ECKECGKAFR HATSLIYHDR THAGEKSYEC KECGETFSHA
SHLIIHERIH TSDKPYECKR CGKAFHCASY LVRHESVHAD GNPYMCEECG KAFNSSHELS
IHHRVHTGEK PFKCNKCRRS FRLRSILEVH QRIHI*
speed 1.08 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