Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999308026271 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:6493198T>CN/A show variant in all transcripts   IGV
HGNC symbol KIAA0753
Ensembl transcript ID ENST00000589033
Genbank transcript ID N/A
UniProt peptide Q2KHM9
alteration type single base exchange
alteration region CDS
DNA changes c.1055A>G
cDNA.1194A>G
g.51050A>G
AA changes Q352R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 352
frameshift no
known variant Reference ID: rs1443417
databasehomozygous (C/C)heterozygousallele carriers
1000G121910122231
ExAC23868-149698899
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.060.873
0.410.897
(flanking)0.790.936
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased51042wt: 0.9005 / mu: 0.9326 (marginal change - not scored)wt: GCTCCCCTCTTTGTCCCACCGGGTATGCAGCACAGCATCGG
mu: GCTCCCCTCTTTGTCCCACCGGGTATGCGGCACAGCATCGG		 accg|GGTA
Acc marginally increased51043wt: 0.9857 / mu: 0.9903 (marginal change - not scored)wt: CTCCCCTCTTTGTCCCACCGGGTATGCAGCACAGCATCGGT
mu: CTCCCCTCTTTGTCCCACCGGGTATGCGGCACAGCATCGGT		 ccgg|GTAT
Acc marginally increased51040wt: 0.7907 / mu: 0.8296 (marginal change - not scored)wt: GAGCTCCCCTCTTTGTCCCACCGGGTATGCAGCACAGCATC
mu: GAGCTCCCCTCTTTGTCCCACCGGGTATGCGGCACAGCATC		 ccac|CGGG
distance from splice site 100
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      352GRAPLFVPPGMQHSIGDYCSRFEQ
mutated  all conserved    352GRAPLFVPPGMRHSIGDYCS
Ptroglodytes  no homologue    
Mmulatta  all conserved  ENSMMUG00000003784  904GRAPLFVPPGMRHSIGDYCS
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000020807  888GQTPLSVPPRMRHSIGAY
Ggallus  not conserved  ENSGALG00000006011  892SYVSLSVTMHMLQSILDY
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000031158  851VDMLRSIKDYTGQFQ
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1272 / 1272
position (AA) of stopcodon in wt / mu AA sequence 424 / 424
position of stopcodon in wt / mu cDNA 1411 / 1411
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 140 / 140
chromosome 17
strand -1
last intron/exon boundary 1294
theoretical NMD boundary in CDS 1104
length of CDS 1272
coding sequence (CDS) position 1055
cDNA position
(for ins/del: last normal base / first normal base)		 1194
gDNA position
(for ins/del: last normal base / first normal base)		 51050
chromosomal position
(for ins/del: last normal base / first normal base)		 6493198
original gDNA sequence snippet CTTTGTCCCACCGGGTATGCAGCACAGCATCGGTGACTACT
altered gDNA sequence snippet CTTTGTCCCACCGGGTATGCGGCACAGCATCGGTGACTACT
original cDNA sequence snippet CTTTGTCCCACCGGGTATGCAGCACAGCATCGGTGACTACT
altered cDNA sequence snippet CTTTGTCCCACCGGGTATGCGGCACAGCATCGGTGACTACT
wildtype AA sequence MNRQPVKDRK APWIPPNPTS PPASPKCAAW LKVKTSPRDA TKEPLQQEDP QEESHLTGAV
EHEAARLAWL DAETSKRLKE LEELKAKEID SMQKQRLDWL DAETSRRTKE LNELKAEEMY
RLQQLSVSAT HLADKVEEAV LDRLKPLLVK AQRVNSTTEA NIHLKDGSSV NTAKAQPAQE
VAAVDFESNN IRQLDDFLED CASELWAVTH AKILGSETLA TVEDSKDSPD LEIMMRRMEE
MEKYQESVRQ RYNKIAYADP RLWMQEENND QKISAISEKP LSPHPIRITK TVDRKDPAVN
IMLERPCNGN SLDESVGTEE GSEKREAPLL SLAEDSQQKE GRAPLFVPPG MQHSIGDYCS
RFEQYLRIIS HEAVGSFNPW LIAESFSEEL VDEALGAVAA ELQDMCEDYA EAVFTSEFLE
AAT*
mutated AA sequence MNRQPVKDRK APWIPPNPTS PPASPKCAAW LKVKTSPRDA TKEPLQQEDP QEESHLTGAV
EHEAARLAWL DAETSKRLKE LEELKAKEID SMQKQRLDWL DAETSRRTKE LNELKAEEMY
RLQQLSVSAT HLADKVEEAV LDRLKPLLVK AQRVNSTTEA NIHLKDGSSV NTAKAQPAQE
VAAVDFESNN IRQLDDFLED CASELWAVTH AKILGSETLA TVEDSKDSPD LEIMMRRMEE
MEKYQESVRQ RYNKIAYADP RLWMQEENND QKISAISEKP LSPHPIRITK TVDRKDPAVN
IMLERPCNGN SLDESVGTEE GSEKREAPLL SLAEDSQQKE GRAPLFVPPG MRHSIGDYCS
RFEQYLRIIS HEAVGSFNPW LIAESFSEEL VDEALGAVAA ELQDMCEDYA EAVFTSEFLE
AAT*
speed 0.71 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