Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999987 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
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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 ENST00000395525
Genbank transcript ID NM_001033554
UniProt peptide Q5M775
alteration type single base exchange
alteration region CDS
DNA changes c.634A>T
cDNA.742A>T
g.195583A>T
AA changes M212L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 212
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      212ESSFGSPTGNQMSSDIDEYKKNIH
mutated  all conserved    212ESSFGSPTGNQLSSDIDEYKKNI
Ptroglodytes  no homologue    
Mmulatta  all conserved  ENSMMUG00000018579  293ESSFGSPAGNQLSSDIDEYKKNI
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000042331  292ESSFGSPVGNELSSETDEYRRTT
Ggallus  all conserved  ENSGALG00000004400  290ESSFGSPSKNVLRGETVEHRQRV
Trubripes  not conserved  ENSTRUG00000001159  175--------AYIASTPSKP
Drerio  not conserved  ENSDARG00000029480  292---------------------NI
Dmelanogaster  all identical  FBgn0025633  316-----QMEIGNLKYENES
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000006748  203GTNIGCQLKSPPAGETGDCRIPG
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2130 / 2130
position (AA) of stopcodon in wt / mu AA sequence 710 / 710
position of stopcodon in wt / mu cDNA 2238 / 2238
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 109 / 109
chromosome 17
strand 1
last intron/exon boundary 2217
theoretical NMD boundary in CDS 2058
length of CDS 2130
coding sequence (CDS) position 634
cDNA position
(for ins/del: last normal base / first normal base)		 742
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 MGNHSGRPED PEPGAFTTTK RTGIPAPREF SVTVSRERSV PRGPSNPRKS VSSPTSSNTP
TPTKHLRTPS TKPKQENEGG EKAALESQVR ELLAEAKAKD SEINRLRSEL KKYKEKRTLN
AEGTDALGPN VDGTSVSPGD TEPMIRALEE KNKNFQKELS DLEEENRVLK EKLIYLEHSP
NSEGAASHTG DSSCPTSITQ ESSFGSPTGN QMSSDIDEYK KNIHGNALRT SGSSSSDVTK
ASLSPDASDF EHITAETPSR PLSSTSNPFK SSKCSTAGSS PNSVSELSLA SLTEKIQKME
ENHHSTAEEL QATLQELSDQ QQMVQELTAE NEKLVDEKTI LETSFHQHRE RAEQLSQENE
KLMNLLQERV KNEEPTTQEG KIIELEQKCT GILEQGRFER EKLLNIQQQL TCSLRKVEEE
NQGALEMIKR LKEENEKLNE FLELERHNNN MMAKTLEECR VTLEGLKMEN GSLKSHLQGE
KQKATEASAV EQTAESCEVQ EMLKVARAEK DLLELSCNEL RQELLKANGE IKHVSSLLAK
VEKDYSYLKE ICDHQAEQLS RTSLKLQEKA SESDAEIKDM KETIFELEDQ VEQHRAVKLH
NNQLISELES SVIKLEEQKS DLERQLKTLT KQMKEETEEW RRFQADLQTA VVVANDIKCE
AQQELRTVKR KLLEEEEKNA RLQKELGDVQ GHGRVVTSRA APPSLGSVS*
mutated AA sequence MGNHSGRPED PEPGAFTTTK RTGIPAPREF SVTVSRERSV PRGPSNPRKS VSSPTSSNTP
TPTKHLRTPS TKPKQENEGG EKAALESQVR ELLAEAKAKD SEINRLRSEL KKYKEKRTLN
AEGTDALGPN VDGTSVSPGD TEPMIRALEE KNKNFQKELS DLEEENRVLK EKLIYLEHSP
NSEGAASHTG DSSCPTSITQ ESSFGSPTGN QLSSDIDEYK KNIHGNALRT SGSSSSDVTK
ASLSPDASDF EHITAETPSR PLSSTSNPFK SSKCSTAGSS PNSVSELSLA SLTEKIQKME
ENHHSTAEEL QATLQELSDQ QQMVQELTAE NEKLVDEKTI LETSFHQHRE RAEQLSQENE
KLMNLLQERV KNEEPTTQEG KIIELEQKCT GILEQGRFER EKLLNIQQQL TCSLRKVEEE
NQGALEMIKR LKEENEKLNE FLELERHNNN MMAKTLEECR VTLEGLKMEN GSLKSHLQGE
KQKATEASAV EQTAESCEVQ EMLKVARAEK DLLELSCNEL RQELLKANGE IKHVSSLLAK
VEKDYSYLKE ICDHQAEQLS RTSLKLQEKA SESDAEIKDM KETIFELEDQ VEQHRAVKLH
NNQLISELES SVIKLEEQKS DLERQLKTLT KQMKEETEEW RRFQADLQTA VVVANDIKCE
AQQELRTVKR KLLEEEEKNA RLQKELGDVQ GHGRVVTSRA APPSLGSVS*
speed 1.33 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