Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.157398207392968 (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) chr17:6524298T>AN/A show variant in all transcripts   IGV
HGNC symbol KIAA0753
Ensembl transcript ID ENST00000361413
Genbank transcript ID NM_014804
UniProt peptide Q2KHM9
alteration type single base exchange
alteration region CDS
DNA changes c.1125A>T
cDNA.1484A>T
g.19950A>T
AA changes E375D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 375
frameshift no
known variant Reference ID: rs9889363
databasehomozygous (A/A)heterozygousallele carriers
1000G25110401291
ExAC84261591524341
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.5871
1.3221
(flanking)2.5871
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc gained199480.54mu: AGGCTTTGGAATCTCTCCTGGATAAGAAACTGTCACCAAAA ctgg|ATAA
distance from splice site 21
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      375LQQIEALESLLEKKLSPKKVKKCF
mutated  all conserved    375LQQIEALESLLDKKLSPKKVKKC
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000003784  383LQQIEALESLLEKKLSPKKVKKC
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000020807  367LQQIEALESLLEKKLSPKKAKKC
Ggallus  all identical  ENSGALG00000006011  376LMQVEDLISLLEKKQTPKKVKKC
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000031158  326LQKVEDLNILLEEKISSHAKKMS
protein features
start (aa)end (aa)featuredetails 
616642COILEDPotential.might get lost (downstream of altered splice site)
821821CONFLICTS -> G (in Ref. 1; BAA34473).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2904 / 2904
position (AA) of stopcodon in wt / mu AA sequence 968 / 968
position of stopcodon in wt / mu cDNA 3263 / 3263
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 360 / 360
chromosome 17
strand -1
last intron/exon boundary 3146
theoretical NMD boundary in CDS 2736
length of CDS 2904
coding sequence (CDS) position 1125
cDNA position
(for ins/del: last normal base / first normal base)		 1484
gDNA position
(for ins/del: last normal base / first normal base)		 19950
chromosomal position
(for ins/del: last normal base / first normal base)		 6524298
original gDNA sequence snippet GCTTTGGAATCTCTCCTGGAAAAGAAACTGTCACCAAAAAA
altered gDNA sequence snippet GCTTTGGAATCTCTCCTGGATAAGAAACTGTCACCAAAAAA
original cDNA sequence snippet GCTTTGGAATCTCTCCTGGAAAAGAAACTGTCACCAAAAAA
altered cDNA sequence snippet GCTTTGGAATCTCTCCTGGATAAGAAACTGTCACCAAAAAA
wildtype AA sequence MGPGQPASTC VHLAPRTQLD GRSDPKVLQT QNQLQFNRNV PTHSSNLAIR YSCPHAIRIE
KLKHSYNESY HCKDADCRVG PDLGSSVSFS VISQERLSYA VHLARRDVKR RQFEKHIKEH
HLRSQPQSSQ KCGHTKYKIP DHRVERKESK SQAACQCSHQ PSKVEISSSG AKVYLYSSHP
GQSDLTVPNS PPTHDPGLQP HPRIGDHKNI SEQKSLLEVQ RLQKELSSCI HKIEEVTKKD
RLEEALDPDE ERRIRIRRQE QAARSARMLY VLQQQVKEIQ EELDKLSPHK IKHTKKSWAM
SKLAAAHRGA IRALQMFVTQ FTDRGEHPLP ARCKELGSLI RQLSLCSVKL DADPSVPDVV
IDILQQIEAL ESLLEKKLSP KKVKKCFSEI RSRFPIGSQK ALERWPSTSP KGERRPLTAK
DTFPQETSRP SVAKQLLADK YQPDTELPET QRLQSELDVL DADIVLEEGP FILDQSASFK
DEVLAVAKTK AGKKKPVTEN VPFRKKDTLA PARQQGLRKA ERGRQSQPHS KSRVQQTTVS
SRLKMNRQPV KDRKAPWIPP NPTSPPASPK CAAWLKVKTS PRDATKEPLQ QEDPQEESHL
TGAVEHEAAR LAWLDAETSK RLKELEELKA KEIDSMQKQR LDWLDAETSR RTKELNELKA
EEMYRLQQLS VSATHLADKV EEAVLDRLKP LLVKAQRVNS TTEANIHLKD GSSVNTAKAQ
PAQEVAAVDF ESNNIRQLDD FLEDCASELW AVTHAKILGS ETLATVEDSK DSPDLEIMMR
RMEEMEKYQE SVRQRYNKIA YADPRLWMQE ENNDQKISAI SEKPLSPHPI RITKTVDRKD
PAVNIMLERP CNGNSLDESV GTEEGSEKRE APLLSLAEDS QQKEGRAPLF VPPGMQHSIG
DYCSRFEQYL RIISHEAVGS FNPWLIAESF SEELVDEALG AVAAELQDMC EDYAEAVFTS
EFLEAAT*
mutated AA sequence MGPGQPASTC VHLAPRTQLD GRSDPKVLQT QNQLQFNRNV PTHSSNLAIR YSCPHAIRIE
KLKHSYNESY HCKDADCRVG PDLGSSVSFS VISQERLSYA VHLARRDVKR RQFEKHIKEH
HLRSQPQSSQ KCGHTKYKIP DHRVERKESK SQAACQCSHQ PSKVEISSSG AKVYLYSSHP
GQSDLTVPNS PPTHDPGLQP HPRIGDHKNI SEQKSLLEVQ RLQKELSSCI HKIEEVTKKD
RLEEALDPDE ERRIRIRRQE QAARSARMLY VLQQQVKEIQ EELDKLSPHK IKHTKKSWAM
SKLAAAHRGA IRALQMFVTQ FTDRGEHPLP ARCKELGSLI RQLSLCSVKL DADPSVPDVV
IDILQQIEAL ESLLDKKLSP KKVKKCFSEI RSRFPIGSQK ALERWPSTSP KGERRPLTAK
DTFPQETSRP SVAKQLLADK YQPDTELPET QRLQSELDVL DADIVLEEGP FILDQSASFK
DEVLAVAKTK AGKKKPVTEN VPFRKKDTLA PARQQGLRKA ERGRQSQPHS KSRVQQTTVS
SRLKMNRQPV KDRKAPWIPP NPTSPPASPK CAAWLKVKTS PRDATKEPLQ QEDPQEESHL
TGAVEHEAAR LAWLDAETSK RLKELEELKA KEIDSMQKQR LDWLDAETSR RTKELNELKA
EEMYRLQQLS VSATHLADKV EEAVLDRLKP LLVKAQRVNS TTEANIHLKD GSSVNTAKAQ
PAQEVAAVDF ESNNIRQLDD FLEDCASELW AVTHAKILGS ETLATVEDSK DSPDLEIMMR
RMEEMEKYQE SVRQRYNKIA YADPRLWMQE ENNDQKISAI SEKPLSPHPI RITKTVDRKD
PAVNIMLERP CNGNSLDESV GTEEGSEKRE APLLSLAEDS QQKEGRAPLF VPPGMQHSIG
DYCSRFEQYL RIISHEAVGS FNPWLIAESF SEELVDEALG AVAAELQDMC EDYAEAVFTS
EFLEAAT*
speed 1.28 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