Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999988 (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) chr5:96086334G>CN/A show variant in all transcripts   IGV
HGNC symbol CAST
Ensembl transcript ID ENST00000510756
Genbank transcript ID N/A
UniProt peptide P20810
alteration type single base exchange
alteration region CDS
DNA changes c.1406G>C
cDNA.1406G>C
g.220810G>C
AA changes C469S Score: 112 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 469
frameshift no
known variant Reference ID: rs754615
databasehomozygous (C/C)heterozygousallele carriers
1000G2499731222
ExAC72651823725502
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9030.006
1.1160.006
(flanking)0.0140.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased220802wt: 0.48 / mu: 0.63wt: TCGGAGGCTGTGTGT
mu: TCGGAGGCTGTGTCT		 GGAG|gctg
distance from splice site 44
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      469AAAPAPVSEAVCRTSMCSIQSAPP
mutated  not conserved    469AAAPAPVSEAVSRTSMCSIQSAP
Ptroglodytes  not conserved  ENSPTRG00000017093  386ATAPAPVAEAVSQTSMCSIQSAP
Mmulatta  not conserved  ENSMMUG00000002062  408AAAPAPVAEAVSRTSMCSIQSAP
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021585  454DTSQTPPGETVPRASMCSIRSAP
Ggallus  not conserved  ENSGALG00000014682  370ASTKTAKDEVVPRATACSVQSSA
Trubripes  not conserved  ENSTRUG00000014934  266SAGAASKLEGKSKSKSRSKKQQP
Drerio  not conserved  ENSDARG00000058693  470KHAAVPEKTKDIPKTKADALSS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000013262  628KKAEKEVVAASSATVKAA
protein features
start (aa)end (aa)featuredetails 
446499REPEATInhibitory domain 3.lost
467467CONFLICTR -> L (in Ref. 10; AAC50136).might get lost (downstream of altered splice site)
486488CONFLICTVKD -> GKE (in Ref. 10; AAC50136).might get lost (downstream of altered splice site)
543543CONFLICTV -> L (in Ref. 10; AAC50136).might get lost (downstream of altered splice site)
562562CONFLICTMissing (in Ref. 13; AAB60371).might get lost (downstream of altered splice site)
583636REPEATInhibitory domain 4.might get lost (downstream of altered splice site)
629629MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
651651CONFLICTI -> V (in Ref. 14; AAD09102).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2310 / 2310
position (AA) of stopcodon in wt / mu AA sequence 770 / 770
position of stopcodon in wt / mu cDNA 2310 / 2310
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 1 / 1
chromosome 5
strand 1
last intron/exon boundary 2275
theoretical NMD boundary in CDS 2224
length of CDS 2310
coding sequence (CDS) position 1406
cDNA position
(for ins/del: last normal base / first normal base)		 1406
gDNA position
(for ins/del: last normal base / first normal base)		 220810
chromosomal position
(for ins/del: last normal base / first normal base)		 96086334
original gDNA sequence snippet TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA
altered gDNA sequence snippet TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA
original cDNA sequence snippet TCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTA
altered cDNA sequence snippet TCCTGTGTCGGAGGCTGTGTCTCGGACCTCCATGTGTAGTA
wildtype AA sequence MSQPGQKPAA SPRPRRAAAA RRTHEHVSEK TSESPSKPGE KKGSDEKKAA SLGSSQSSRT
YAGGTASATK VSASSGATSK SSSMNPTETK AVKTEPEKKS QSTKLSVVHE KKSQEGKPKE
HTEPKSLPKQ ASDTGSNDAH NKKAVSRSAE QQPSEKSTEP KTKPQDMISA GGESVAGITA
ISGKPGDKKK EKKSLTPAVP VESKPDKPSG KSGMDAALDD LIDTLGGPEE TEEENTTYTG
PEVSDPMSST YIEELGKREV TIPPKYRELL AKKEGITGPP ADSSKPIGPD DAIDALSSDF
TCGSPTAAGK KTEKEESTEV LKAQSAGTVR SAAPPQEKKR KVEKDTMSDQ ALEALSASLG
TRQAEPELDL RSIKEVDEAK AKEEKLEKCG EDDETIPSEY RLKPATDKDG KPLLPEPEEK
PKPRSESELI DELSEDFDRS ECKEKPSKPT EKTEESKAAA PAPVSEAVCR TSMCSIQSAP
PEPATLKGTV PDDAVEALAD SLGKKEADPE DGKPVMDKVK EKAKEEDREK LGEKEETIPP
DYRLEEVKDK DGKPLLPKES KEQLPPMSED FLLDALSEDF SGPQNASSLK FEDAKLAAAI
SEVVSQTPAS TTQAGAPPRD TSQSDKDLDD ALDKLSDSLG QRQPDPDENK PMEDKVKEKA
KAEHRDKLGE RDDTIPPEYR HLLDDNGQDK PVKPPTKKSE DSKKPADDQD PIDALSGDLD
SCPSTTETSQ NTAKDKCKKA ASSSKAPKNG GKAKDSAKTT EETSKPKDD*
mutated AA sequence MSQPGQKPAA SPRPRRAAAA RRTHEHVSEK TSESPSKPGE KKGSDEKKAA SLGSSQSSRT
YAGGTASATK VSASSGATSK SSSMNPTETK AVKTEPEKKS QSTKLSVVHE KKSQEGKPKE
HTEPKSLPKQ ASDTGSNDAH NKKAVSRSAE QQPSEKSTEP KTKPQDMISA GGESVAGITA
ISGKPGDKKK EKKSLTPAVP VESKPDKPSG KSGMDAALDD LIDTLGGPEE TEEENTTYTG
PEVSDPMSST YIEELGKREV TIPPKYRELL AKKEGITGPP ADSSKPIGPD DAIDALSSDF
TCGSPTAAGK KTEKEESTEV LKAQSAGTVR SAAPPQEKKR KVEKDTMSDQ ALEALSASLG
TRQAEPELDL RSIKEVDEAK AKEEKLEKCG EDDETIPSEY RLKPATDKDG KPLLPEPEEK
PKPRSESELI DELSEDFDRS ECKEKPSKPT EKTEESKAAA PAPVSEAVSR TSMCSIQSAP
PEPATLKGTV PDDAVEALAD SLGKKEADPE DGKPVMDKVK EKAKEEDREK LGEKEETIPP
DYRLEEVKDK DGKPLLPKES KEQLPPMSED FLLDALSEDF SGPQNASSLK FEDAKLAAAI
SEVVSQTPAS TTQAGAPPRD TSQSDKDLDD ALDKLSDSLG QRQPDPDENK PMEDKVKEKA
KAEHRDKLGE RDDTIPPEYR HLLDDNGQDK PVKPPTKKSE DSKKPADDQD PIDALSGDLD
SCPSTTETSQ NTAKDKCKKA ASSSKAPKNG GKAKDSAKTT EETSKPKDD*
speed 1.16 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