Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999378442500596 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:39777676G>CN/A show variant in all transcripts   IGV
HGNC symbol MIA2
Ensembl transcript ID ENST00000396158
Genbank transcript ID NM_001247989
UniProt peptide O15320
alteration type single base exchange
alteration region CDS
DNA changes c.1093G>C
cDNA.1429G>C
g.43189G>C
AA changes E365Q Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 365
frameshift no
known variant Reference ID: rs1950952
databasehomozygous (C/C)heterozygousallele carriers
1000G74112021943
ExAC22942-131179825
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3440.14
1.0310.603
(flanking)1.2960.735
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 24
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      365ELTEHIKNLQTEQASLQSENTHFE
mutated  all conserved    365NLQTQQASLQSENTHF
Ptroglodytes  all identical  ENSPTRG00000006297  360NLQTEQASLQSENTHF
Mmulatta  all identical  ENSMMUG00000021121  361ELTEHIKSLQTEQAS
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021000  364DLTEHIKSLESKQASLQ
Ggallus  all identical  ENSGALG00000010189  871ELTERIENLQSEQVSLQSENERL
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000023516  276DLHEGIKQLEEQKELLVSESANY
Dmelanogaster  all conserved  FBgn0031842  1107QEEAHKQRLESQLQQSSQDVEQLKQDFNQS
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
321501COILEDPotential.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2430 / 2430
position (AA) of stopcodon in wt / mu AA sequence 810 / 810
position of stopcodon in wt / mu cDNA 2766 / 2766
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 337 / 337
chromosome 14
strand 1
last intron/exon boundary 2600
theoretical NMD boundary in CDS 2213
length of CDS 2430
coding sequence (CDS) position 1093
cDNA position
(for ins/del: last normal base / first normal base)		 1429
gDNA position
(for ins/del: last normal base / first normal base)		 43189
chromosomal position
(for ins/del: last normal base / first normal base)		 39777676
original gDNA sequence snippet ATATTAAAAATCTTCAGACTGAACAAGCATCTTTGCAGTCA
altered gDNA sequence snippet ATATTAAAAATCTTCAGACTCAACAAGCATCTTTGCAGTCA
original cDNA sequence snippet ATATTAAAAATCTTCAGACTGAACAAGCATCTTTGCAGTCA
altered cDNA sequence snippet ATATTAAAAATCTTCAGACTCAACAAGCATCTTTGCAGTCA
wildtype AA sequence MEEPGVTPQP YLGLLLEELR RVVAALPEGM RPDSNLYGFP WELVICAAVV GFFAVLFFLW
RSFRSVRSRL YVGREKKLAL MLSGLIEEKS KLLEKFSLVQ KEYEGYEVES SLKDASFEKE
ATEAQSLEVE NQMATCEKLN RSNSELEDEI LCLEKELKEE KSKHSEQDEL MADISKRIQS
LEDESKSLKS QVAEAKMTFK IFQMNEERLK IAIKDALNEN SQLQESQKQL LQEAEVWKEQ
VSELNKQKVT FEDSKVHAEQ VLNDKESHIK TLTERLLKMK DWAAMLGEDI TDDDNLELEM
NSESENGAYL DNPPKGALKK LIHAAKLNAS LKTLEGERNQ IYIQLSEVDK TKEELTEHIK
NLQTEQASLQ SENTHFENEN QKLQQKLKVM TELYQENEMK LHRKLTVEEN YRLEKEEKLS
KVDEKISHAT EELETYRKRA KDLEEELERT IHSYQGQIIS HEKKAHDNWL AARNAERNLN
DLRKENAHNR QKLTETELKF ELLEKDPYAL DVPNTAFGRE HSPYGPSPLG WPSSETRAFL
SPPTLLEGPL RLSPLLPGGG GRGSRGPGNP LDHQITNERG ESSCDRLTDP HRAPSDTGSL
SPPWDQDRRM MFPPPGQSYP DSALPPQRQD RFCSNSGRLS GPAELRSFNM PSLDKMDGSM
PSEMESSRND TKDDLGNLNV PDSSLPAENE ATGPGFVPPP LAPIRGPLFP VDARGPFLRR
GPPFPPPPPG AMFGASRDYF PPGDFPGPPP APFAMRNVYP PRGFPPYLPP RPGFFPPPPH
SEGRSEFPSG LIPPSNEPAT EHPEPQQET*
mutated AA sequence MEEPGVTPQP YLGLLLEELR RVVAALPEGM RPDSNLYGFP WELVICAAVV GFFAVLFFLW
RSFRSVRSRL YVGREKKLAL MLSGLIEEKS KLLEKFSLVQ KEYEGYEVES SLKDASFEKE
ATEAQSLEVE NQMATCEKLN RSNSELEDEI LCLEKELKEE KSKHSEQDEL MADISKRIQS
LEDESKSLKS QVAEAKMTFK IFQMNEERLK IAIKDALNEN SQLQESQKQL LQEAEVWKEQ
VSELNKQKVT FEDSKVHAEQ VLNDKESHIK TLTERLLKMK DWAAMLGEDI TDDDNLELEM
NSESENGAYL DNPPKGALKK LIHAAKLNAS LKTLEGERNQ IYIQLSEVDK TKEELTEHIK
NLQTQQASLQ SENTHFENEN QKLQQKLKVM TELYQENEMK LHRKLTVEEN YRLEKEEKLS
KVDEKISHAT EELETYRKRA KDLEEELERT IHSYQGQIIS HEKKAHDNWL AARNAERNLN
DLRKENAHNR QKLTETELKF ELLEKDPYAL DVPNTAFGRE HSPYGPSPLG WPSSETRAFL
SPPTLLEGPL RLSPLLPGGG GRGSRGPGNP LDHQITNERG ESSCDRLTDP HRAPSDTGSL
SPPWDQDRRM MFPPPGQSYP DSALPPQRQD RFCSNSGRLS GPAELRSFNM PSLDKMDGSM
PSEMESSRND TKDDLGNLNV PDSSLPAENE ATGPGFVPPP LAPIRGPLFP VDARGPFLRR
GPPFPPPPPG AMFGASRDYF PPGDFPGPPP APFAMRNVYP PRGFPPYLPP RPGFFPPPPH
SEGRSEFPSG LIPPSNEPAT EHPEPQQET*
speed 1.20 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