Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999890883 (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) chr19:53612720T>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF415
Ensembl transcript ID ENST00000243643
Genbank transcript ID NM_001164309
UniProt peptide Q09FC8
alteration type single base exchange
alteration region CDS
DNA changes c.578A>G
cDNA.682A>G
g.23452A>G
AA changes Y193C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 193
frameshift no
known variant Reference ID: rs1560099
databasehomozygous (C/C)heterozygousallele carriers
1000G104626730
ExAC23151672619041
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0590.051
-0.7210.002
(flanking)-1.110
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained234460.91mu: TTCTAATAAATGTGG CTAA|taaa
distance from splice site 442
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      193SSTIKTHVSNKYGTDFICSSLLTQ
mutated  not conserved    193SSTIKTHVSNKCGTDFICSSLLT
Ptroglodytes  all identical  ENSPTRG00000011420  241SSTVKTHVSNKYGTDFICSSLLT
Mmulatta  all identical  ENSMMUG00000010758  193SSTVKTHISNKYGTDFVCSSLLT
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 
264286ZN_FINGC2H2-type 1; degenerate.might get lost (downstream of altered splice site)
292314ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
320342ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
348370ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
376398ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
404426ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
432454ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
460482ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
488510ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
516538ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
544566ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
572594ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1668 / 1668
position (AA) of stopcodon in wt / mu AA sequence 556 / 556
position of stopcodon in wt / mu cDNA 1772 / 1772
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 105 / 105
chromosome 19
strand -1
last intron/exon boundary 241
theoretical NMD boundary in CDS 86
length of CDS 1668
coding sequence (CDS) position 578
cDNA position
(for ins/del: last normal base / first normal base)		 682
gDNA position
(for ins/del: last normal base / first normal base)		 23452
chromosomal position
(for ins/del: last normal base / first normal base)		 53612720
original gDNA sequence snippet AACCCATGTTTCTAATAAATATGGGACTGATTTCATCTGTT
altered gDNA sequence snippet AACCCATGTTTCTAATAAATGTGGGACTGATTTCATCTGTT
original cDNA sequence snippet AACCCATGTTTCTAATAAATATGGGACTGATTTCATCTGTT
altered cDNA sequence snippet AACCCATGTTTCTAATAAATGTGGGACTGATTTCATCTGTT
wildtype AA sequence MAFTQLTFRD VAIEFSQDEW KCLNSTQRTL YRDVMLENYR NLVSLDLSRN CVIKELAPQQ
EGNPGEVFHT VTLEQHEKHD IEEFCFREIK KKIHDFDCQW RDDERNCNKV TTAPKENLTC
RRDQRDRRGI GNKSIKHQLG LSFLPHPHEL QQFQAEGKIY ECNHVEKSVN HGSSVSPPQI
ISSTIKTHVS NKYGTDFICS SLLTQEQKSC IREKPYRYIE CDKALNHGSH MTVRQVSHSG
EKGYKCDLCG KVFSQKSNLA RHWRVHTGEK PYKCNECDRS FSRNSCLALH RRVHTGEKPY
KCYECDKVFS RNSCLALHQK THIGEKPYTC KECGKAFSVR STLTNHQVIH SGKKPYKCNE
CGKVFSQTSS LATHQRIHTG EKPYKCNECG KVFSQTSSLA RHWRIHTGEK PYKCNECGKV
FSYNSHLASH RRVHTGEKPY KCNECGKAFS VHSNLTTHQV IHTGEKPYKC NQCGKGFSVH
SSLTTHQVIH TGEKPYKCNE CGKSFSVRPN LTRHQIIHTG KKPYKCSDCG KSFSVRPNLF
RHQIIHTKEK PYKRN*
mutated AA sequence MAFTQLTFRD VAIEFSQDEW KCLNSTQRTL YRDVMLENYR NLVSLDLSRN CVIKELAPQQ
EGNPGEVFHT VTLEQHEKHD IEEFCFREIK KKIHDFDCQW RDDERNCNKV TTAPKENLTC
RRDQRDRRGI GNKSIKHQLG LSFLPHPHEL QQFQAEGKIY ECNHVEKSVN HGSSVSPPQI
ISSTIKTHVS NKCGTDFICS SLLTQEQKSC IREKPYRYIE CDKALNHGSH MTVRQVSHSG
EKGYKCDLCG KVFSQKSNLA RHWRVHTGEK PYKCNECDRS FSRNSCLALH RRVHTGEKPY
KCYECDKVFS RNSCLALHQK THIGEKPYTC KECGKAFSVR STLTNHQVIH SGKKPYKCNE
CGKVFSQTSS LATHQRIHTG EKPYKCNECG KVFSQTSSLA RHWRIHTGEK PYKCNECGKV
FSYNSHLASH RRVHTGEKPY KCNECGKAFS VHSNLTTHQV IHTGEKPYKC NQCGKGFSVH
SSLTTHQVIH TGEKPYKCNE CGKSFSVRPN LTRHQIIHTG KKPYKCSDCG KSFSVRPNLF
RHQIIHTKEK PYKRN*
speed 1.10 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