Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999983996229831 (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) chr19:58572979G>AN/A show variant in all transcripts   IGV
HGNC symbol ZNF135
Ensembl transcript ID ENST00000359978
Genbank transcript ID NM_001164530
UniProt peptide P52742
alteration type single base exchange
alteration region CDS
DNA changes c.101G>A
cDNA.104G>A
g.2373G>A
AA changes G34D Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 34
frameshift no
known variant Reference ID: rs1469087
databasehomozygous (A/A)heterozygousallele carriers
1000G16186832301
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4680.839
0.1340.843
(flanking)-0.0650.86
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased2378wt: 0.9789 / mu: 0.9810 (marginal change - not scored)wt: GCTTCAGCCAGGAGG
mu: ACTTCAGCCAGGAGG		 TTCA|gcca
distance from splice site 32
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      34REQVTFEDVVVGFSQEEWGQLKPA
mutated  not conserved    34REQVTFEDVVVDFSQEEWGQLKP
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000020498  22PEQVTFEDVVVDFSQEEWGQLKP
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000087839  n/a
Dmelanogaster  no alignment  FBgn0025874  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1485DOMAINKRAB.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1173 / 1173
position (AA) of stopcodon in wt / mu AA sequence 391 / 391
position of stopcodon in wt / mu cDNA 1176 / 1176
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 4 / 4
chromosome 19
strand 1
last intron/exon boundary 1123
theoretical NMD boundary in CDS 1069
length of CDS 1173
coding sequence (CDS) position 101
cDNA position
(for ins/del: last normal base / first normal base)		 104
gDNA position
(for ins/del: last normal base / first normal base)		 2373
chromosomal position
(for ins/del: last normal base / first normal base)		 58572979
original gDNA sequence snippet GTTTGAGGACGTGGTAGTGGGCTTCAGCCAGGAGGAGTGGG
altered gDNA sequence snippet GTTTGAGGACGTGGTAGTGGACTTCAGCCAGGAGGAGTGGG
original cDNA sequence snippet GTTTGAGGACGTGGTAGTGGGCTTCAGCCAGGAGGAGTGGG
altered cDNA sequence snippet GTTTGAGGACGTGGTAGTGGACTTCAGCCAGGAGGAGTGGG
wildtype AA sequence MELGSRRRSV GCRCRGLCLA VRREQVTFED VVVGFSQEEW GQLKPAQRTL YRDVMLDTFR
LLVSVGHWLP KPNVISLLEQ EAELWAVESR LPQGVYPDLE TRPKVKLSVL KQGISEEISN
SVILVERFLW DGLWYCRGED TEGHWEWSCE SLESLAVPVA FTPVKTPVLE QWQRNGFGEN
ISLNPDLPHQ PMTPERQSPH TWGTRGKREK PDLNVLQKTC VKEKPYKCQE CGKAFSHSSA
LIEHHRTHTG ERPYECHECL KGFRNSSALT KHQRIHTGEK PYKCTQCGRT FNQIAPLIQH
QRTHTGEKPY ECSECGKSFS FRSSFSQHER THTGEKPYEC SECGKAFRQS IHLTQHLRIH
TGEKPYQCGE CGKAFTHSSS LTKHQRTHTG *
mutated AA sequence MELGSRRRSV GCRCRGLCLA VRREQVTFED VVVDFSQEEW GQLKPAQRTL YRDVMLDTFR
LLVSVGHWLP KPNVISLLEQ EAELWAVESR LPQGVYPDLE TRPKVKLSVL KQGISEEISN
SVILVERFLW DGLWYCRGED TEGHWEWSCE SLESLAVPVA FTPVKTPVLE QWQRNGFGEN
ISLNPDLPHQ PMTPERQSPH TWGTRGKREK PDLNVLQKTC VKEKPYKCQE CGKAFSHSSA
LIEHHRTHTG ERPYECHECL KGFRNSSALT KHQRIHTGEK PYKCTQCGRT FNQIAPLIQH
QRTHTGEKPY ECSECGKSFS FRSSFSQHER THTGEKPYEC SECGKAFRQS IHLTQHLRIH
TGEKPYQCGE CGKAFTHSSS LTKHQRTHTG *
speed 0.55 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