Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999813232261 (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) chr18:34664093A>GN/A show variant in all transcripts   IGV
HGNC symbol KIAA1328
Ensembl transcript ID ENST00000435985
Genbank transcript ID N/A
UniProt peptide Q86T90
alteration type single base exchange
alteration region CDS
DNA changes c.386A>G
cDNA.1260A>G
g.255025A>G
AA changes K129R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 129
frameshift no
known variant Reference ID: rs323295
databasehomozygous (G/G)heterozygousallele carriers
1000G4229011323
ExAC70327493452
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8161
0.20.998
(flanking)1.5240.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased255017wt: 0.32 / mu: 0.43wt: ATTTTTTAAATTAATTTTTACAGGTTAAAAGCTCAGGCTCT
mu: ATTTTTTAAATTAATTTTTACAGGTTAAGAGCTCAGGCTCT		 ttac|AGGT
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      129LHQSRLDYNWLKAQALFKSRELVA
mutated  all conserved    129SRLDYNWLRAQALFKSRELV
Ptroglodytes  not conserved  ENSPTRG00000009981  415SRLDYN--------------
Mmulatta  not conserved  ENSMMUG00000006864  415SRLDYN--------------
Fcatus  not conserved  ENSFCAG00000008804  398LHQSRLDYNXXXXXXXXXXXXXX
Mmusculus  all conserved  ENSMUSG00000033632  417QSRLDYNWLRTQAMFKSRELV
Ggallus  all conserved  ENSGALG00000002419  420LRQSQMHYNRFRGHVSGSGDVLI
Trubripes  all identical  ENSTRUG00000015476  321LQQSRLHSHRNKADELTVPADG
Drerio  all conserved  ENSDARG00000070040  400LRQSYLQYSKLQ
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000025981  367---------SRR--
protein features
start (aa)end (aa)featuredetails 
91167COILEDPotential.lost
358402COILEDPotential.might get lost (downstream of altered splice site)
484484MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 840 / 840
position (AA) of stopcodon in wt / mu AA sequence 280 / 280
position of stopcodon in wt / mu cDNA 1714 / 1714
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 875 / 875
chromosome 18
strand 1
last intron/exon boundary 1654
theoretical NMD boundary in CDS 729
length of CDS 840
coding sequence (CDS) position 386
cDNA position
(for ins/del: last normal base / first normal base)		 1260
gDNA position
(for ins/del: last normal base / first normal base)		 255025
chromosomal position
(for ins/del: last normal base / first normal base)		 34664093
original gDNA sequence snippet AATTAATTTTTACAGGTTAAAAGCTCAGGCTCTGTTTAAGT
altered gDNA sequence snippet AATTAATTTTTACAGGTTAAGAGCTCAGGCTCTGTTTAAGT
original cDNA sequence snippet ACTGGATTACAATTGGTTAAAAGCTCAGGCTCTGTTTAAGT
altered cDNA sequence snippet ACTGGATTACAATTGGTTAAGAGCTCAGGCTCTGTTTAAGT
wildtype AA sequence MPQEELHMKE CPHLKPTPSQ CCGHRLAADR VHDSHPTNMT PQHPKTHPES CSYCRLSWAS
LVHGGGALQP IETLKKQISE DRKQQLMLQK MELEIEKERL QHLLAQQETK LLLKQQQLHQ
SRLDYNWLKA QALFKSRELV AEKQLTKPQE LKLDMNGSDS GPSLLKSNCD GWLLGTSSSI
KKHQDPPNSG ENRKERKTVG FHSHMKDDAQ WSCQKKDTCR PQRGTVTGVR KDASTSPMPT
GSLKDFVTTA SPSLQHTTSR PGISTKICFL SNHFFILFS*
mutated AA sequence MPQEELHMKE CPHLKPTPSQ CCGHRLAADR VHDSHPTNMT PQHPKTHPES CSYCRLSWAS
LVHGGGALQP IETLKKQISE DRKQQLMLQK MELEIEKERL QHLLAQQETK LLLKQQQLHQ
SRLDYNWLRA QALFKSRELV AEKQLTKPQE LKLDMNGSDS GPSLLKSNCD GWLLGTSSSI
KKHQDPPNSG ENRKERKTVG FHSHMKDDAQ WSCQKKDTCR PQRGTVTGVR KDASTSPMPT
GSLKDFVTTA SPSLQHTTSR PGISTKICFL SNHFFILFS*
speed 1.04 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