Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999997621973768 (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) chr12:1553797A>GN/A show variant in all transcripts   IGV
HGNC symbol ERC1
Ensembl transcript ID ENST00000543086
Genbank transcript ID NM_178039
UniProt peptide Q8IUD2
alteration type single base exchange
alteration region CDS
DNA changes c.3010A>G
cDNA.3281A>G
g.454123A>G
AA changes T1004A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1004
frameshift no
known variant Reference ID: rs12319376
databasehomozygous (G/G)heterozygousallele carriers
1000G235478713
ExAC180973729181
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1020.994
1.0210.997
(flanking)2.911
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 70
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1004SKLKLYIGHLTTLCHDRDPLILRG
mutated  not conserved    1004SKLKLYIGHLTALCHDRDPLILR
Ptroglodytes  not conserved  ENSPTRG00000004515  1032SKLKLYIGHLTALCHERDPLILR
Mmulatta  no alignment  ENSMMUG00000010933  n/a
Fcatus  not conserved  ENSFCAG00000006191  809SKLKLYIGHLTALCHDRDPLILR
Mmusculus  not conserved  ENSMUSG00000030172  1036SKLKLYIGHLTALCHDRDPLILR
Ggallus  no alignment  ENSGALG00000012994  n/a
Trubripes  not conserved  ENSTRUG00000012327  1045SKLKLYIAHLTDLCHDRDPSILS
Drerio  not conserved  ENSDARG00000031930  523SKLKLYIGHLTALCHERDPLILQ
Dmelanogaster  no homologue    
Celegans  no alignment  F42A6.9  n/a
Xtropicalis  not conserved  ENSXETG00000009409  1043SKLKLYIGHLTALCQDRDPHILQ
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3267 / 3267
position (AA) of stopcodon in wt / mu AA sequence 1089 / 1089
position of stopcodon in wt / mu cDNA 3538 / 3538
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 272 / 272
chromosome 12
strand 1
last intron/exon boundary 3401
theoretical NMD boundary in CDS 3079
length of CDS 3267
coding sequence (CDS) position 3010
cDNA position
(for ins/del: last normal base / first normal base)		 3281
gDNA position
(for ins/del: last normal base / first normal base)		 454123
chromosomal position
(for ins/del: last normal base / first normal base)		 1553797
original gDNA sequence snippet TGTACATTGGACACCTGACAACCCTCTGCCATGACCGAGAC
altered gDNA sequence snippet TGTACATTGGACACCTGACAGCCCTCTGCCATGACCGAGAC
original cDNA sequence snippet TGTACATTGGACACCTGACAACCCTCTGCCATGACCGAGAC
altered cDNA sequence snippet TGTACATTGGACACCTGACAGCCCTCTGCCATGACCGAGAC
wildtype AA sequence MYGSARSVGK VEPSSQSPGR SPRLPRSPRL GHRRTNSTGG SSGSSVGGGS GKTLSMENIQ
SLNAAYATSG PMYLSDHENV GSETPKSTMT LGRSGGRLPY GVRMTAMGSS PNIASSGVAS
DTIAFGEHHL PPVSMASTVP HSLRQARDNT IMDLQTQLKE VLRENDLLRK DVEVKESKLS
SSMNSIKTFW SPELKKERAL RKDEASKITI WKEQYRVVQE ENQHMQMTIQ ALQDELRIQR
DLNQLFQQDS SSRTGEPCVA ELTEENFQRL HAEHERQAKE LFLLRKTLEE MELRIETQKQ
TLNARDESIK KLLEMLQSKG LSAKATEEDH ERTRRLAEAE MHVHHLESLL EQKEKENSML
REEMHRRFEN APDSAKTKAL QTVIEMKDSK ISSMERGLRD LEEEIQMLKS NGALSTEERE
EEMKQMEVYR SHSKFMKNKI GQVKQELSRK DTELLALQTK LETLTNQFSD SKQHIEVLKE
SLTAKEQRAA ILQTEVDALR LRLEEKETML NKKTKQIQDM AEEKGTQAGE IHDLKDMLDV
KERKVNVLQK KIENLQEQLR DKEKQMSSLK ERVKSLQADT TNTDTALTTL EEALAEKERT
IERLKEQRDR DEREKQEEID NYKKDLKDLK EKVSLLQGDL SEKEASLLDL KEHASSLASS
GLKKDSRLKT LEIALEQKKE ECLKMESQLK KAHEAALEAR ASPEMSDRIQ HLEREITRYK
DESSKAQAEV DRLLEILKEV ENEKNDKDKK IAELERQVKD QNKKVANLKH KEQVEKKKSA
QMLEEARRRE DNLNDSSQQL QDSLRKKDDR IEELEEALRE SVQITAEREM VLAQEESART
NAEKQVEELL MAMEKVKQEL ESMKAKLSST QQSLAEKETH LTNLRAERRK HLEEVLEMKQ
EALLAAISEK DANIALLELS SSKKKTQEEV AALKREKDRL VQQLKQQTQN RMKLMADNYE
DDHFKSSHSN QTNHKPSPDQ IIQPLLELDQ NRSKLKLYIG HLTTLCHDRD PLILRGLTPP
ASYNLDDDQA AWENELQKMT RGQLQDELEK GERDNAELQE FANAILQQIA DHCPDILEQV
VNALEESS*
mutated AA sequence MYGSARSVGK VEPSSQSPGR SPRLPRSPRL GHRRTNSTGG SSGSSVGGGS GKTLSMENIQ
SLNAAYATSG PMYLSDHENV GSETPKSTMT LGRSGGRLPY GVRMTAMGSS PNIASSGVAS
DTIAFGEHHL PPVSMASTVP HSLRQARDNT IMDLQTQLKE VLRENDLLRK DVEVKESKLS
SSMNSIKTFW SPELKKERAL RKDEASKITI WKEQYRVVQE ENQHMQMTIQ ALQDELRIQR
DLNQLFQQDS SSRTGEPCVA ELTEENFQRL HAEHERQAKE LFLLRKTLEE MELRIETQKQ
TLNARDESIK KLLEMLQSKG LSAKATEEDH ERTRRLAEAE MHVHHLESLL EQKEKENSML
REEMHRRFEN APDSAKTKAL QTVIEMKDSK ISSMERGLRD LEEEIQMLKS NGALSTEERE
EEMKQMEVYR SHSKFMKNKI GQVKQELSRK DTELLALQTK LETLTNQFSD SKQHIEVLKE
SLTAKEQRAA ILQTEVDALR LRLEEKETML NKKTKQIQDM AEEKGTQAGE IHDLKDMLDV
KERKVNVLQK KIENLQEQLR DKEKQMSSLK ERVKSLQADT TNTDTALTTL EEALAEKERT
IERLKEQRDR DEREKQEEID NYKKDLKDLK EKVSLLQGDL SEKEASLLDL KEHASSLASS
GLKKDSRLKT LEIALEQKKE ECLKMESQLK KAHEAALEAR ASPEMSDRIQ HLEREITRYK
DESSKAQAEV DRLLEILKEV ENEKNDKDKK IAELERQVKD QNKKVANLKH KEQVEKKKSA
QMLEEARRRE DNLNDSSQQL QDSLRKKDDR IEELEEALRE SVQITAEREM VLAQEESART
NAEKQVEELL MAMEKVKQEL ESMKAKLSST QQSLAEKETH LTNLRAERRK HLEEVLEMKQ
EALLAAISEK DANIALLELS SSKKKTQEEV AALKREKDRL VQQLKQQTQN RMKLMADNYE
DDHFKSSHSN QTNHKPSPDQ IIQPLLELDQ NRSKLKLYIG HLTALCHDRD PLILRGLTPP
ASYNLDDDQA AWENELQKMT RGQLQDELEK GERDNAELQE FANAILQQIA DHCPDILEQV
VNALEESS*
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