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 ENST00000572370
Genbank transcript ID N/A
UniProt peptide Q2KHM9
alteration type single base exchange
alteration region CDS
DNA changes c.1790A>G
cDNA.2688A>G
g.51050A>G
AA changes Q597R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 597
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      597GRAPLFVPPGMQHSIGDYCSRFEQ
mutated  all conserved    597GRAPLFVPPGMRHSI
Ptroglodytes  no homologue    
Mmulatta  all conserved  ENSMMUG00000003784  904GRAPLFVPPGMRHSIGDYCSRFE
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000020807  888GQTPLSVPPRMRHSIGAYCSRFE
Ggallus  not conserved  ENSGALG00000006011  892LQSILDYNSKYK
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000031158  851GRKPITVPVDMLRSIKDYTGQFQ
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2007 / 2007
position (AA) of stopcodon in wt / mu AA sequence 669 / 669
position of stopcodon in wt / mu cDNA 2905 / 2905
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 899 / 899
chromosome 17
strand -1
last intron/exon boundary 2788
theoretical NMD boundary in CDS 1839
length of CDS 2007
coding sequence (CDS) position 1790
cDNA position
(for ins/del: last normal base / first normal base)		 2688
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 MSKLAAAHRG AIRALQMFVT QFTDRGEHPL PARCKELGSL IRQLSLCSVK LDADPSVPDV
VIDILQQIEA LESLLEKKLS PKKVKKCFSE IRSRFPIGSQ KALERWPSTS PKGERRPLTA
KDTFPQETSR PSVAKQLLAD KYQPDTELPE TQRLQSELDV LDADIVLEEG PFILDQSASF
KDEVLAVAKT KAGKKKPVTE NVPFRKKDTL APARQQGLRK AERGRQSQPH SKSRVQQTTV
SSRLKMNRQP VKDRKAPWIP PNPTSPPASP KCAAWLKVKT SPRDATKEPL QQEDPQEESH
LTGAVEHEAA RLAWLDAETS KRLKELEELK AKEIDSMQKQ RLDWLDAETS RRTKELNELK
AEEMYRLQQL SVSATHLADK VEEAVLDRLK PLLVKAQRVN STTEANIHLK DGSSVNTAKA
QPAQEVAAVD FESNNIRQLD DFLEDCASEL WAVTHAKILG SETLATVEDS KDSPDLEIMM
RRMEEMEKYQ ESVRQRYNKI AYADPRLWMQ EENNDQKISA ISEKPLSPHP IRITKTVDRK
DPAVNIMLER PCNGNSLDES VGTEEGSEKR EAPLLSLAED SQQKEGRAPL FVPPGMQHSI
GDYCSRFEQY LRIISHEAVG SFNPWLIAES FSEELVDEAL GAVAAELQDM CEDYAEAVFT
SEFLEAAT*
mutated AA sequence MSKLAAAHRG AIRALQMFVT QFTDRGEHPL PARCKELGSL IRQLSLCSVK LDADPSVPDV
VIDILQQIEA LESLLEKKLS PKKVKKCFSE IRSRFPIGSQ KALERWPSTS PKGERRPLTA
KDTFPQETSR PSVAKQLLAD KYQPDTELPE TQRLQSELDV LDADIVLEEG PFILDQSASF
KDEVLAVAKT KAGKKKPVTE NVPFRKKDTL APARQQGLRK AERGRQSQPH SKSRVQQTTV
SSRLKMNRQP VKDRKAPWIP PNPTSPPASP KCAAWLKVKT SPRDATKEPL QQEDPQEESH
LTGAVEHEAA RLAWLDAETS KRLKELEELK AKEIDSMQKQ RLDWLDAETS RRTKELNELK
AEEMYRLQQL SVSATHLADK VEEAVLDRLK PLLVKAQRVN STTEANIHLK DGSSVNTAKA
QPAQEVAAVD FESNNIRQLD DFLEDCASEL WAVTHAKILG SETLATVEDS KDSPDLEIMM
RRMEEMEKYQ ESVRQRYNKI AYADPRLWMQ EENNDQKISA ISEKPLSPHP IRITKTVDRK
DPAVNIMLER PCNGNSLDES VGTEEGSEKR EAPLLSLAED SQQKEGRAPL FVPPGMRHSI
GDYCSRFEQY LRIISHEAVG SFNPWLIAES FSEELVDEAL GAVAAELQDM CEDYAEAVFT
SEFLEAAT*
speed 0.65 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