Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999968 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:20108239A>TN/A show variant in all transcripts   IGV
HGNC symbol SPECC1
Ensembl transcript ID ENST00000395529
Genbank transcript ID NM_001243438
UniProt peptide Q5M775
alteration type single base exchange
alteration region CDS
DNA changes c.877A>T
cDNA.929A>T
g.195583A>T
AA changes M293L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 293
frameshift no
known variant Reference ID: rs2703806
databasehomozygous (T/T)heterozygousallele carriers
1000G17555932348
ExAC28714-246614053
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.4590.013
-0.6050
(flanking)0.0330
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 594
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      293ESSFGSPTGNQMSSDIDEYKKNIH
mutated  all conserved    293ESSFGSPTGNQLSSDIDEY
Ptroglodytes  no homologue    
Mmulatta  all conserved  ENSMMUG00000018579  293ESSFGSPAGNQLSSDIDEY
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000042331  292ESSFGSPVGNELSSETDEY
Ggallus  all conserved  ENSGALG00000004400  290ESSFGSPSKNVLRGETVEH
Trubripes  not conserved  ENSTRUG00000001159  175--------AYIASTPSKP
Drerio  not conserved  ENSDARG00000029480  293---------------------NI
Dmelanogaster  all identical  FBgn0025633  316-----QMEIGNLKYENES
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000006748  203GTNIGCQLKSPPAGETGDCRIPG
protein features
start (aa)end (aa)featuredetails 
260372COMPBIASSer-rich.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2373 / 2373
position (AA) of stopcodon in wt / mu AA sequence 791 / 791
position of stopcodon in wt / mu cDNA 2425 / 2425
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 53 / 53
chromosome 17
strand 1
last intron/exon boundary 2404
theoretical NMD boundary in CDS 2301
length of CDS 2373
coding sequence (CDS) position 877
cDNA position
(for ins/del: last normal base / first normal base)		 929
gDNA position
(for ins/del: last normal base / first normal base)		 195583
chromosomal position
(for ins/del: last normal base / first normal base)		 20108239
original gDNA sequence snippet GAAGCCCAACTGGAAATCAGATGTCCAGTGACATTGATGAG
altered gDNA sequence snippet GAAGCCCAACTGGAAATCAGTTGTCCAGTGACATTGATGAG
original cDNA sequence snippet GAAGCCCAACTGGAAATCAGATGTCCAGTGACATTGATGAG
altered cDNA sequence snippet GAAGCCCAACTGGAAATCAGTTGTCCAGTGACATTGATGAG
wildtype AA sequence MRSAAKPWNP AIRAGGHGPD RVRPLPAASS GMKSSKSSTS LAFESRLSRL KRASSEDTLN
KPGSTAASGV VRLKKTATAG AISELTESRL RSGTGAFTTT KRTGIPAPRE FSVTVSRERS
VPRGPSNPRK SVSSPTSSNT PTPTKHLRTP STKPKQENEG GEKAALESQV RELLAEAKAK
DSEINRLRSE LKKYKEKRTL NAEGTDALGP NVDGTSVSPG DTEPMIRALE EKNKNFQKEL
SDLEEENRVL KEKLIYLEHS PNSEGAASHT GDSSCPTSIT QESSFGSPTG NQMSSDIDEY
KKNIHGNALR TSGSSSSDVT KASLSPDASD FEHITAETPS RPLSSTSNPF KSSKCSTAGS
SPNSVSELSL ASLTEKIQKM EENHHSTAEE LQATLQELSD QQQMVQELTA ENEKLVDEKT
ILETSFHQHR ERAEQLSQEN EKLMNLLQER VKNEEPTTQE GKIIELEQKC TGILEQGRFE
REKLLNIQQQ LTCSLRKVEE ENQGALEMIK RLKEENEKLN EFLELERHNN NMMAKTLEEC
RVTLEGLKME NGSLKSHLQG EKQKATEASA VEQTAESCEV QEMLKVARAE KDLLELSCNE
LRQELLKANG EIKHVSSLLA KVEKDYSYLK EICDHQAEQL SRTSLKLQEK ASESDAEIKD
MKETIFELED QVEQHRAVKL HNNQLISELE SSVIKLEEQK SDLERQLKTL TKQMKEETEE
WRRFQADLQT AVVVANDIKC EAQQELRTVK RKLLEEEEKN ARLQKELGDV QGHGRVVTSR
AAPPSLGSVS *
mutated AA sequence MRSAAKPWNP AIRAGGHGPD RVRPLPAASS GMKSSKSSTS LAFESRLSRL KRASSEDTLN
KPGSTAASGV VRLKKTATAG AISELTESRL RSGTGAFTTT KRTGIPAPRE FSVTVSRERS
VPRGPSNPRK SVSSPTSSNT PTPTKHLRTP STKPKQENEG GEKAALESQV RELLAEAKAK
DSEINRLRSE LKKYKEKRTL NAEGTDALGP NVDGTSVSPG DTEPMIRALE EKNKNFQKEL
SDLEEENRVL KEKLIYLEHS PNSEGAASHT GDSSCPTSIT QESSFGSPTG NQLSSDIDEY
KKNIHGNALR TSGSSSSDVT KASLSPDASD FEHITAETPS RPLSSTSNPF KSSKCSTAGS
SPNSVSELSL ASLTEKIQKM EENHHSTAEE LQATLQELSD QQQMVQELTA ENEKLVDEKT
ILETSFHQHR ERAEQLSQEN EKLMNLLQER VKNEEPTTQE GKIIELEQKC TGILEQGRFE
REKLLNIQQQ LTCSLRKVEE ENQGALEMIK RLKEENEKLN EFLELERHNN NMMAKTLEEC
RVTLEGLKME NGSLKSHLQG EKQKATEASA VEQTAESCEV QEMLKVARAE KDLLELSCNE
LRQELLKANG EIKHVSSLLA KVEKDYSYLK EICDHQAEQL SRTSLKLQEK ASESDAEIKD
MKETIFELED QVEQHRAVKL HNNQLISELE SSVIKLEEQK SDLERQLKTL TKQMKEETEE
WRRFQADLQT AVVVANDIKC EAQQELRTVK RKLLEEEEKN ARLQKELGDV QGHGRVVTSR
AAPPSLGSVS *
speed 1.14 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