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 ENST00000508830
Genbank transcript ID N/A
UniProt peptide P20810
alteration type single base exchange
alteration region CDS
DNA changes c.1472G>C
cDNA.1635G>C
g.220810G>C
AA changes C491S Score: 112 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 491
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      491AAAPAPVSEAVCRTSMCSIQSAPP
mutated  not conserved    491AAPAPVSEAVSRTSMCSIQSAP
Ptroglodytes  not conserved  ENSPTRG00000017093  386ATAPAPVAEAVSQTSMCSIQSAP
Mmulatta  not conserved  ENSMMUG00000002062  408AAAPAPVAEAVSRTSMCSIQSAP
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021585  454DTSQTPPGETVPRASMCSIRSA
Ggallus  not conserved  ENSGALG00000014682  373ASTKTAKDEVVPRATACSVQSSA
Trubripes  not conserved  ENSTRUG00000014934  266SAGAASKLEGKSKSKSRSKKQQP
Drerio  not conserved  ENSDARG00000058693  469KHAAVPEKTKDIPKTKADALSSDFVAPAHSAP
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000013262  628KKAEKEVVAASSATVKAA
protein features
start (aa)end (aa)featuredetails 
446499REPEATInhibitory domain 3.lost
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 2376 / 2376
position (AA) of stopcodon in wt / mu AA sequence 792 / 792
position of stopcodon in wt / mu cDNA 2539 / 2539
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 164 / 164
chromosome 5
strand 1
last intron/exon boundary 2504
theoretical NMD boundary in CDS 2290
length of CDS 2376
coding sequence (CDS) position 1472
cDNA position
(for ins/del: last normal base / first normal base)		 1635
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 AIPVSQQMEG PHLPNKKKHK KQAVKTEPEK
KSQSTKLSVV HEKKSQEGKP KEHTEPKSLP KQASDTGSND AHNKKAVSRS AEQQPSEKST
EPKTKPQDMI SAGGESVAGI TAISGKPGDK KKEKKSLTPA VPVESKPDKP SGKSGMDAAL
DDLIDTLGGP EETEEENTTY TGPEVSDPMS STYIEELGKR EVTIPPKYRE LLAKKEGITG
PPADSSKPIG PDDAIDALSS DFTCGSPTAA GKKTEKEEST EVLKAQSAGT VRSAAPPQEK
KRKVEKDTMS DQALEALSAS LGTRQAEPEL DLRSIKEVDE AKAKEEKLEK CGEDDETIPS
EYRLKPATDK DGKPLLPEPE EKPKPRSESE LIDELSEDFD RSECKEKPSK PTEKTEESKA
AAPAPVSEAV CRTSMCSIQS APPEPATLKG TVPDDAVEAL ADSLGKKEAD PEDGKPVMDK
VKEKAKEEDR EKLGEKEETI PPDYRLEEVK DKDGKPLLPK ESKEQLPPMS EDFLLDALSE
DFSGPQNASS LKFEDAKLAA AISEVVSQTP ASTTQAGAPP RDTSQSDKDL DDALDKLSDS
LGQRQPDPDE NKPMEDKVKE KAKAEHRDKL GERDDTIPPE YRHLLDDNGQ DKPVKPPTKK
SEDSKKPADD QDPIDALSGD LDSCPSTTET SQNTAKDKCK KAASSSKAPK NGGKAKDSAK
TTEETSKPKD D*
mutated AA sequence MSQPGQKPAA SPRPRRAAAA RRTHEHVSEK TSESPSKPGE KKGSDEKKAA SLGSSQSSRT
YAGGTASATK VSASSGATSK SSSMNPTETK AIPVSQQMEG PHLPNKKKHK KQAVKTEPEK
KSQSTKLSVV HEKKSQEGKP KEHTEPKSLP KQASDTGSND AHNKKAVSRS AEQQPSEKST
EPKTKPQDMI SAGGESVAGI TAISGKPGDK KKEKKSLTPA VPVESKPDKP SGKSGMDAAL
DDLIDTLGGP EETEEENTTY TGPEVSDPMS STYIEELGKR EVTIPPKYRE LLAKKEGITG
PPADSSKPIG PDDAIDALSS DFTCGSPTAA GKKTEKEEST EVLKAQSAGT VRSAAPPQEK
KRKVEKDTMS DQALEALSAS LGTRQAEPEL DLRSIKEVDE AKAKEEKLEK CGEDDETIPS
EYRLKPATDK DGKPLLPEPE EKPKPRSESE LIDELSEDFD RSECKEKPSK PTEKTEESKA
AAPAPVSEAV SRTSMCSIQS APPEPATLKG TVPDDAVEAL ADSLGKKEAD PEDGKPVMDK
VKEKAKEEDR EKLGEKEETI PPDYRLEEVK DKDGKPLLPK ESKEQLPPMS EDFLLDALSE
DFSGPQNASS LKFEDAKLAA AISEVVSQTP ASTTQAGAPP RDTSQSDKDL DDALDKLSDS
LGQRQPDPDE NKPMEDKVKE KAKAEHRDKL GERDDTIPPE YRHLLDDNGQ DKPVKPPTKK
SEDSKKPADD QDPIDALSGD LDSCPSTTET SQNTAKDKCK KAASSSKAPK NGGKAKDSAK
TTEETSKPKD D*
speed 1.39 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