Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999998764803806 (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) chr19:35435006G>AN/A show variant in all transcripts   IGV
HGNC symbol ZNF30
Ensembl transcript ID ENST00000426813
Genbank transcript ID N/A
UniProt peptide P17039
alteration type single base exchange
alteration region CDS
DNA changes c.893G>A
cDNA.1449G>A
g.17200G>A
AA changes R298K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 298
frameshift no
known variant Reference ID: rs1345658
databasehomozygous (A/A)heterozygousallele carriers
1000G11779132090
ExAC18346-392514421
regulatory features 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
ZNF274, Transcription Factor, ZNF274 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)3.2620.897
1.0060.723
(flanking)-0.4460.062
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 increased17197wt: 0.5566 / mu: 0.5774 (marginal change - not scored)wt: ATGCGGGAGAACCTT
mu: ATGCGGGAAAACCTT		 GCGG|gaga
Donor increased17203wt: 0.34 / mu: 0.50wt: GAGAACCTTCAGTCG
mu: GAAAACCTTCAGTCG		 GAAC|cttc
Donor gained171960.90mu: AATGCGGGAAAACCT TGCG|ggaa
Donor gained171950.92mu: GAATGCGGGAAAACC ATGC|ggga
distance from splice site 880
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      298EIKPYGCKECGRTFSRASYLVQHG
mutated  all conserved    298EIKPYGCKECGKTF
Ptroglodytes  all conserved  ENSPTRG00000010822  379GIKPYGCKECGKTFSRAS
Mmulatta  no homologue    
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 
288310ZN_FINGC2H2-type 7.lost
304304CONFLICTA -> V (in Ref. 2; CAE45802).might get lost (downstream of altered splice site)
316338ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
344366ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
372394ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
400422ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
428450ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
456478ZN_FINGC2H2-type 13.might get lost (downstream of altered splice site)
484506ZN_FINGC2H2-type 14.might get lost (downstream of altered splice site)
492492CONFLICTT -> A (in Ref. 4; AAI42997).might get lost (downstream of altered splice site)
493493CONFLICTF -> L (in Ref. 2; CAE45802).might get lost (downstream of altered splice site)
512534ZN_FINGC2H2-type 15.might get lost (downstream of altered splice site)
540562ZN_FINGC2H2-type 16.might get lost (downstream of altered splice site)
568590ZN_FINGC2H2-type 17.might get lost (downstream of altered splice site)
596618ZN_FINGC2H2-type 18.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1629 / 1629
position (AA) of stopcodon in wt / mu AA sequence 543 / 543
position of stopcodon in wt / mu cDNA 2185 / 2185
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 557 / 557
chromosome 19
strand 1
last intron/exon boundary 570
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1629
coding sequence (CDS) position 893
cDNA position
(for ins/del: last normal base / first normal base)		 1449
gDNA position
(for ins/del: last normal base / first normal base)		 17200
chromosomal position
(for ins/del: last normal base / first normal base)		 35435006
original gDNA sequence snippet CGGATGCAAGGAATGCGGGAGAACCTTCAGTCGTGCCTCAT
altered gDNA sequence snippet CGGATGCAAGGAATGCGGGAAAACCTTCAGTCGTGCCTCAT
original cDNA sequence snippet CGGATGCAAGGAATGCGGGAGAACCTTCAGTCGTGCCTCAT
altered cDNA sequence snippet CGGATGCAAGGAATGCGGGAAAACCTTCAGTCGTGCCTCAT
wildtype AA sequence MEPKDLQLED DTIGCKEMPT SENCPSFALH QKISRQKPRE CQEYGKTLCQ DSKPVQHERI
HSSEKPNRCK ECGKNFSNGH QLTIHQRLHV GEKPYKYEKC GKAFISGSAF VKHGRIHTGE
KPLKCKQCGK TISGSYQLTV HKSIHTGKKP YECGECGKAF LVYGKLTRHQ STHTGEKPFG
CEECGKAFST FSYLVQHQRI HTSEKPYECK ECGKAFSTSS PLAKHQRIHT GEKPYECKEC
GKSFTVYGQL TRHQSIHTGE KPFECKECGK AFRLSSFLHA HQRIHAEIKP YGCKECGRTF
SRASYLVQHG RLHTGEKPYE CKECGKAFST GSYLVQHQRI HTGEKPYECK ECGKAFISRH
QLTVHQRVHT GEKPYECKEC GKAFRVHVHL TQHRKIHTDV KPYECKECGK TFSRASYLVQ
HSRIHTGKKP YECKECGKAF SSGSYLVQHQ RIHTGEKPYE CNKCGKAFTV YGQLIGHQSV
HTGEKPFECK ECGKAFRLNS FLTEHQRVHT GEKPFKCKKC GKTFRYSSAL KVHLRKHMSV
IP*
mutated AA sequence MEPKDLQLED DTIGCKEMPT SENCPSFALH QKISRQKPRE CQEYGKTLCQ DSKPVQHERI
HSSEKPNRCK ECGKNFSNGH QLTIHQRLHV GEKPYKYEKC GKAFISGSAF VKHGRIHTGE
KPLKCKQCGK TISGSYQLTV HKSIHTGKKP YECGECGKAF LVYGKLTRHQ STHTGEKPFG
CEECGKAFST FSYLVQHQRI HTSEKPYECK ECGKAFSTSS PLAKHQRIHT GEKPYECKEC
GKSFTVYGQL TRHQSIHTGE KPFECKECGK AFRLSSFLHA HQRIHAEIKP YGCKECGKTF
SRASYLVQHG RLHTGEKPYE CKECGKAFST GSYLVQHQRI HTGEKPYECK ECGKAFISRH
QLTVHQRVHT GEKPYECKEC GKAFRVHVHL TQHRKIHTDV KPYECKECGK TFSRASYLVQ
HSRIHTGKKP YECKECGKAF SSGSYLVQHQ RIHTGEKPYE CNKCGKAFTV YGQLIGHQSV
HTGEKPFECK ECGKAFRLNS FLTEHQRVHT GEKPFKCKKC GKTFRYSSAL KVHLRKHMSV
IP*
speed 0.98 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