Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999998965 (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) chr7:138764233C>TN/A show variant in all transcripts   IGV
HGNC symbol ZC3HAV1
Ensembl transcript ID ENST00000471652
Genbank transcript ID NM_024625
UniProt peptide Q7Z2W4
alteration type single base exchange
alteration region CDS
DNA changes c.1454G>A
cDNA.1842G>A
g.30233G>A
AA changes R485K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 485
frameshift no
known variant Reference ID: rs2236426
databasehomozygous (T/T)heterozygousallele carriers
1000G175813988
ExAC31941710120295
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4210
-0.5920
(flanking)0.8250.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased30234wt: 0.43 / mu: 0.75wt: CCAAGAGTAGCACTT
mu: CCAAAAGTAGCACTT		 AAGA|gtag
Donor marginally increased30229wt: 0.8970 / mu: 0.9397 (marginal change - not scored)wt: CTGACCCAAGAGTAG
mu: CTGACCCAAAAGTAG		 GACC|caag
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      485ATGRIADDADPRVALVNDSLSDVT
mutated  all conserved    485DADPKVALVNDSLSDV
Ptroglodytes  all identical  ENSPTRG00000019750  485DADPRVALVNDSLSDV
Mmulatta  all identical  ENSMMUG00000006550  485DAGPRVALVNDKTTDV
Fcatus  not conserved  ENSFCAG00000012408  486DGADPAAASVNNFASDL
Mmusculus  not conserved  ENSMUSG00000029826  583MSDPAEY-------SLCYI
Ggallus  no alignment  ENSGALG00000013911  n/a
Trubripes  all identical  ENSTRUG00000007328  260AVESPPRLSLDSKPMSDI
Drerio  no alignment  ENSDARG00000042496  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000008921  488VAQKVNSAAIGKYAATGTT-SEV
protein features
start (aa)end (aa)featuredetails 
594681DOMAINWWE.might get lost (downstream of altered splice site)
716902DOMAINPARP catalytic.might get lost (downstream of altered splice site)
729732STRANDmight get lost (downstream of altered splice site)
738748HELIXmight get lost (downstream of altered splice site)
754763STRANDmight get lost (downstream of altered splice site)
765778HELIXmight get lost (downstream of altered splice site)
783790STRANDmight get lost (downstream of altered splice site)
791793HELIXmight get lost (downstream of altered splice site)
794800HELIXmight get lost (downstream of altered splice site)
804807HELIXmight get lost (downstream of altered splice site)
812814STRANDmight get lost (downstream of altered splice site)
816823STRANDmight get lost (downstream of altered splice site)
824830HELIXmight get lost (downstream of altered splice site)
835837HELIXmight get lost (downstream of altered splice site)
838845STRANDmight get lost (downstream of altered splice site)
849852STRANDmight get lost (downstream of altered splice site)
866869STRANDmight get lost (downstream of altered splice site)
871873STRANDmight get lost (downstream of altered splice site)
876879STRANDmight get lost (downstream of altered splice site)
882884HELIXmight get lost (downstream of altered splice site)
885895STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2100 / 2100
position (AA) of stopcodon in wt / mu AA sequence 700 / 700
position of stopcodon in wt / mu cDNA 2488 / 2488
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 389 / 389
chromosome 7
strand -1
last intron/exon boundary 2382
theoretical NMD boundary in CDS 1943
length of CDS 2100
coding sequence (CDS) position 1454
cDNA position
(for ins/del: last normal base / first normal base)		 1842
gDNA position
(for ins/del: last normal base / first normal base)		 30233
chromosomal position
(for ins/del: last normal base / first normal base)		 138764233
original gDNA sequence snippet CGCAGATGATGCTGACCCAAGAGTAGCACTTGTTAACGGTA
altered gDNA sequence snippet CGCAGATGATGCTGACCCAAAAGTAGCACTTGTTAACGGTA
original cDNA sequence snippet CGCAGATGATGCTGACCCAAGAGTAGCACTTGTTAACGATT
altered cDNA sequence snippet CGCAGATGATGCTGACCCAAAAGTAGCACTTGTTAACGATT
wildtype AA sequence MADPEVCCFI TKILCAHGGR MALDALLQEI ALSEPQLCEV LQVAGPDRFV VLETGGEAGI
TRSVVATTRA RVCRRKYCQR PCDNLHLCKL NLLGRCNYSQ SERNLCKYSH EVLSEENFKV
LKNHELSGLN KEELAVLLLQ SDPFFMPEIC KSYKGEGRQQ ICNQQPPCSR LHICDHFTRG
NCRFPNCLRS HNLMDRKVLA IMREHGLNPD VVQNIQDICN SKHMQKNPPG PRAPSSHRRN
MAYRARSKSR DRFFQGSQEF LASASASAER SCTPSPDQIS HRASLEDAPV DDLTRKFTYL
GSQDRARPPS GSSKATDLGG TSQAGTSQRF LENGSQEDLL HGNPGSTYLA SNSTSAPNWK
SLTSWTNDQG ARRKTVFSPT LPAARSSLGS LQTPEAVTTR KGTGLLSSDY RIINGKSGTQ
DIQPGPLFNN NADGVATDIT STRSLNYKST SSGHREISSP RIQDAGPASR DVQATGRIAD
DADPRVALVN DSLSDVTSTT SSRVDDHDSE EICLDHLCKG CPLNGSCSKV HFHLPYRWQM
LIGKTWTDFE HMETIEKGYC NPGIHLCSVG SYTINFRVMS CDSFPIRRLS TPSSVTKPAN
SVFTTKWIWY WKNESGTWIQ YGEEKDKRKN SNVDSSYLES LYQSCPRGVV PFQAGSRNYE
LSFQGMIQTN IASKTQKDVI RRPTFVPQWY VQQMKRGPE*
mutated AA sequence MADPEVCCFI TKILCAHGGR MALDALLQEI ALSEPQLCEV LQVAGPDRFV VLETGGEAGI
TRSVVATTRA RVCRRKYCQR PCDNLHLCKL NLLGRCNYSQ SERNLCKYSH EVLSEENFKV
LKNHELSGLN KEELAVLLLQ SDPFFMPEIC KSYKGEGRQQ ICNQQPPCSR LHICDHFTRG
NCRFPNCLRS HNLMDRKVLA IMREHGLNPD VVQNIQDICN SKHMQKNPPG PRAPSSHRRN
MAYRARSKSR DRFFQGSQEF LASASASAER SCTPSPDQIS HRASLEDAPV DDLTRKFTYL
GSQDRARPPS GSSKATDLGG TSQAGTSQRF LENGSQEDLL HGNPGSTYLA SNSTSAPNWK
SLTSWTNDQG ARRKTVFSPT LPAARSSLGS LQTPEAVTTR KGTGLLSSDY RIINGKSGTQ
DIQPGPLFNN NADGVATDIT STRSLNYKST SSGHREISSP RIQDAGPASR DVQATGRIAD
DADPKVALVN DSLSDVTSTT SSRVDDHDSE EICLDHLCKG CPLNGSCSKV HFHLPYRWQM
LIGKTWTDFE HMETIEKGYC NPGIHLCSVG SYTINFRVMS CDSFPIRRLS TPSSVTKPAN
SVFTTKWIWY WKNESGTWIQ YGEEKDKRKN SNVDSSYLES LYQSCPRGVV PFQAGSRNYE
LSFQGMIQTN IASKTQKDVI RRPTFVPQWY VQQMKRGPE*
speed 1.05 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