Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999999 (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) chr19:19136541C>TN/A show variant in all transcripts   IGV
HGNC symbol SUGP2
Ensembl transcript ID ENST00000337018
Genbank transcript ID NM_014884
UniProt peptide Q8IX01
alteration type single base exchange
alteration region CDS
DNA changes c.616G>A
cDNA.762G>A
g.7840G>A
AA changes G206S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 206
frameshift no
known variant Reference ID: rs4808907
databasehomozygous (T/T)heterozygousallele carriers
1000G15847772361
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0470
-0.530
(flanking)0.3190
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased7843wt: 0.9989 / mu: 0.9993 (marginal change - not scored)wt: GCGGCAGTCAAGTCC
mu: GCAGCAGTCAAGTCC		 GGCA|gtca
distance from splice site 495
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      206HPGEADSVLRGGSQVQARGRALNI
mutated  not conserved    206HPGEADSVLRGSSQVQARGRALN
Ptroglodytes  not conserved  ENSPTRG00000010727  206HPGEADSVLRGSSQVQARGRALN
Mmulatta  not conserved  ENSMMUG00000019665  207HPGEADSVLRGSSQVQARGRALN
Fcatus  not conserved  ENSFCAG00000009765  206RPGETDSVLRGSGQVQGRGRGLN
Mmusculus  not conserved  ENSMUSG00000036054  200HPGEVDSVSRSSGQVLTRGRSLN
Ggallus  not conserved  ENSGALG00000003047  208FGIQSDSEFRPPIRRGNIGRGRVLR
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0051550  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3249 / 3249
position (AA) of stopcodon in wt / mu AA sequence 1083 / 1083
position of stopcodon in wt / mu cDNA 3395 / 3395
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 147 / 147
chromosome 19
strand -1
last intron/exon boundary 3396
theoretical NMD boundary in CDS 3199
length of CDS 3249
coding sequence (CDS) position 616
cDNA position
(for ins/del: last normal base / first normal base)		 762
gDNA position
(for ins/del: last normal base / first normal base)		 7840
chromosomal position
(for ins/del: last normal base / first normal base)		 19136541
original gDNA sequence snippet CTGACTCTGTGCTTAGGGGCGGCAGTCAAGTCCAGGCCAGA
altered gDNA sequence snippet CTGACTCTGTGCTTAGGGGCAGCAGTCAAGTCCAGGCCAGA
original cDNA sequence snippet CTGACTCTGTGCTTAGGGGCGGCAGTCAAGTCCAGGCCAGA
altered cDNA sequence snippet CTGACTCTGTGCTTAGGGGCAGCAGTCAAGTCCAGGCCAGA
wildtype AA sequence MAARRITQET FDAVLQEKAK RYHMDASGEA VSETLQFKAQ DLLRAVPRSR AEMYDDVHSD
GRYSLSGSVA HSRDAGREGL RSDVFPGPSF RSSNPSISDD SYFRKECGRD LEFSHSDSRD
QVIGHRKLGH FRSQDWKFAL RGSWEQDFGH PVSQESSWSQ EYSFGPSAVL GDFGSSRLIE
KECLEKESRD YDVDHPGEAD SVLRGGSQVQ ARGRALNIVD QEGSLLGKGE TQGLLTAKGG
VGKLVTLRNV STKKIPTVNR ITPKTQGTNQ IQKNTPSPDV TLGTNPGTED IQFPIQKIPL
GLDLKNLRLP RRKMSFDIID KSDVFSRFGI EIIKWAGFHT IKDDIKFSQL FQTLFELETE
TCAKMLASFK CSLKPEHRDF CFFTIKFLKH SALKTPRVDN EFLNMLLDKG AVKTKNCFFE
IIKPFDKYIM RLQDRLLKSV TPLLMACNAY ELSVKMKTLS NPLDLALALE TTNSLCRKSL
ALLGQTFSLA SSFRQEKILE AVGLQDIAPS PAAFPNFEDS TLFGREYIDH LKAWLVSSGC
PLQVKKAEPE PMREEEKMIP PTKPEIQAKA PSSLSDAVPQ RADHRVVGTI DQLVKRVIEG
SLSPKERTLL KEDPAYWFLS DENSLEYKYY KLKLAEMQRM SENLRGADQK PTSADCAVRA
MLYSRAVRNL KKKLLPWQRR GLLRAQGLRG WKARRATTGT QTLLSSGTRL KHHGRQAPGL
SQAKPSLPDR NDAAKDCPPD PVGPSPQDPS LEASGPSPKP AGVDISEAPQ TSSPCPSADI
DMKTMETAEK LARFVAQVGP EIEQFSIENS TDNPDLWFLH DQNSSAFKFY RKKVFELCPS
ICFTSSPHNL HTGGGDTTGS QESPVDLMEG EAEFEDEPPP REAELESPEV MPEEEDEDDE
DGGEEAPAPG GAGKSEGSTP ADGLPGEAAE DDLAGAPALS QASSGTCFPR KRISSKSLKV
GMIPAPKRVC LIQEPKVHEP VRIAYDRPRG RPMSKKKKPK DLDFAQQKLT DKNLGFQMLQ
KMGWKEGHGL GSLGKGIREP VSVGTPSEGE GLGADGQEHK EDTFDVFRQR MMQMYRHKRA
NK*
mutated AA sequence MAARRITQET FDAVLQEKAK RYHMDASGEA VSETLQFKAQ DLLRAVPRSR AEMYDDVHSD
GRYSLSGSVA HSRDAGREGL RSDVFPGPSF RSSNPSISDD SYFRKECGRD LEFSHSDSRD
QVIGHRKLGH FRSQDWKFAL RGSWEQDFGH PVSQESSWSQ EYSFGPSAVL GDFGSSRLIE
KECLEKESRD YDVDHPGEAD SVLRGSSQVQ ARGRALNIVD QEGSLLGKGE TQGLLTAKGG
VGKLVTLRNV STKKIPTVNR ITPKTQGTNQ IQKNTPSPDV TLGTNPGTED IQFPIQKIPL
GLDLKNLRLP RRKMSFDIID KSDVFSRFGI EIIKWAGFHT IKDDIKFSQL FQTLFELETE
TCAKMLASFK CSLKPEHRDF CFFTIKFLKH SALKTPRVDN EFLNMLLDKG AVKTKNCFFE
IIKPFDKYIM RLQDRLLKSV TPLLMACNAY ELSVKMKTLS NPLDLALALE TTNSLCRKSL
ALLGQTFSLA SSFRQEKILE AVGLQDIAPS PAAFPNFEDS TLFGREYIDH LKAWLVSSGC
PLQVKKAEPE PMREEEKMIP PTKPEIQAKA PSSLSDAVPQ RADHRVVGTI DQLVKRVIEG
SLSPKERTLL KEDPAYWFLS DENSLEYKYY KLKLAEMQRM SENLRGADQK PTSADCAVRA
MLYSRAVRNL KKKLLPWQRR GLLRAQGLRG WKARRATTGT QTLLSSGTRL KHHGRQAPGL
SQAKPSLPDR NDAAKDCPPD PVGPSPQDPS LEASGPSPKP AGVDISEAPQ TSSPCPSADI
DMKTMETAEK LARFVAQVGP EIEQFSIENS TDNPDLWFLH DQNSSAFKFY RKKVFELCPS
ICFTSSPHNL HTGGGDTTGS QESPVDLMEG EAEFEDEPPP REAELESPEV MPEEEDEDDE
DGGEEAPAPG GAGKSEGSTP ADGLPGEAAE DDLAGAPALS QASSGTCFPR KRISSKSLKV
GMIPAPKRVC LIQEPKVHEP VRIAYDRPRG RPMSKKKKPK DLDFAQQKLT DKNLGFQMLQ
KMGWKEGHGL GSLGKGIREP VSVGTPSEGE GLGADGQEHK EDTFDVFRQR MMQMYRHKRA
NK*
speed 0.64 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