Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1 (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) chr19:58420162T>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF417
Ensembl transcript ID ENST00000536263
Genbank transcript ID N/A
UniProt peptide Q8TAU3
alteration type single base exchange
alteration region CDS
DNA changes c.887A>G
cDNA.1841A>G
g.7817A>G
AA changes N296S Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 296
frameshift no
known variant Reference ID: rs10416584
databasehomozygous (C/C)heterozygousallele carriers
1000G27410281302
ExAC63322010326435
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.0770
-3.1940
(flanking)-1.440
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased7816wt: 0.20 / mu: 0.92wt: AATGCAATGAATGTG
mu: AATGCAGTGAATGTG		 TGCA|atga
Donor gained78110.66mu: GTATGAATGCAGTGA ATGA|atgc
distance from splice site 606
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      296RIHTGERPYECNECGKSFLSSSAL
mutated  all conserved    296RIHTGERPYECSECGK
Ptroglodytes  all conserved  ENSPTRG00000028866  497RIHTGERPYECSECGKS
Mmulatta  all conserved  ENSMMUG00000017400  498RTHTGERPYECSECGK
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 
296318ZN_FINGC2H2-type 4.lost
316316CONFLICTR -> L (in Ref. 2; AAH25783).might get lost (downstream of altered splice site)
324346ZN_FINGC2H2-type 5; degenerate.might get lost (downstream of altered splice site)
352374ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
380402ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
408430ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
436458ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
464486ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
492514ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
520542ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
548570ZN_FINGC2H2-type 13.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1131 / 1131
position (AA) of stopcodon in wt / mu AA sequence 377 / 377
position of stopcodon in wt / mu cDNA 2085 / 2085
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 955 / 955
chromosome 19
strand -1
last intron/exon boundary 521
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1131
coding sequence (CDS) position 887
cDNA position
(for ins/del: last normal base / first normal base)		 1841
gDNA position
(for ins/del: last normal base / first normal base)		 7817
chromosomal position
(for ins/del: last normal base / first normal base)		 58420162
original gDNA sequence snippet AGAAAGGCCGTATGAATGCAATGAATGTGGGAAATCATTTC
altered gDNA sequence snippet AGAAAGGCCGTATGAATGCAGTGAATGTGGGAAATCATTTC
original cDNA sequence snippet AGAAAGGCCGTATGAATGCAATGAATGTGGGAAATCATTTC
altered cDNA sequence snippet AGAAAGGCCGTATGAATGCAGTGAATGTGGGAAATCATTTC
wildtype AA sequence MHGPPFQEGK TNYSCGKRTK AFSTKHSVIP HQKLFTRDGC YVCSDCGKSF SRYVSFSNHQ
RDHTAKGPYD CGECGKSYSR KSSLIQHQRV HTGKTAYPCE ECGKSFSQKG SLISHQRVHT
GERPYECREY GKSFGQKGNL IQHQQGHTGE RAYHCGECGK SFRQKFCFIN HQRVHTGERP
YKCGECGKSF GQKGNLVQHQ RGHTGERPYE CKECGKSFRY RSHLTEHQRL HTGERPYNCR
ECGKLFNRKY HLLVHERVHT GERPYACEVC GKLFGNKNCV TIHQRIHTGE RPYECNECGK
SFLSSSALHV HKRVHSGQKP YKCSECGKSF AECSSLIKHR RIHTGERPYE CTKCGKTFQR
SSTLLHHQSS HRRKAL*
mutated AA sequence MHGPPFQEGK TNYSCGKRTK AFSTKHSVIP HQKLFTRDGC YVCSDCGKSF SRYVSFSNHQ
RDHTAKGPYD CGECGKSYSR KSSLIQHQRV HTGKTAYPCE ECGKSFSQKG SLISHQRVHT
GERPYECREY GKSFGQKGNL IQHQQGHTGE RAYHCGECGK SFRQKFCFIN HQRVHTGERP
YKCGECGKSF GQKGNLVQHQ RGHTGERPYE CKECGKSFRY RSHLTEHQRL HTGERPYNCR
ECGKLFNRKY HLLVHERVHT GERPYACEVC GKLFGNKNCV TIHQRIHTGE RPYECSECGK
SFLSSSALHV HKRVHSGQKP YKCSECGKSF AECSSLIKHR RIHTGERPYE CTKCGKTFQR
SSTLLHHQSS HRRKAL*
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