Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999994276299178 (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
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:39818145G>AN/A show variant in all transcripts   IGV
HGNC symbol MIA2
Ensembl transcript ID ENST00000348007
Genbank transcript ID NM_001247988
UniProt peptide O15320
alteration type single base exchange
alteration region CDS
DNA changes c.2083G>A
cDNA.2129G>A
g.83658G>A
AA changes G695R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 695
frameshift no
known variant Reference ID: rs1060878
databasehomozygous (A/A)heterozygousallele carriers
1000G25910381297
ExAC77341729925033
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3620.999
0.3260.999
(flanking)3.541
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased83655wt: 0.24 / mu: 0.37wt: CTTCTCGAGATTATTTTCCACCAGGGGATTTCCCAGGTCCA
mu: CTTCTCGAGATTATTTTCCACCAAGGGATTTCCCAGGTCCA		 ccac|CAGG
Acc marginally increased83658wt: 0.6961 / mu: 0.7634 (marginal change - not scored)wt: CTCGAGATTATTTTCCACCAGGGGATTTCCCAGGTCCACCA
mu: CTCGAGATTATTTTCCACCAAGGGATTTCCCAGGTCCACCA		 ccag|GGGA
Donor increased83658wt: 0.65 / mu: 0.95wt: CACCAGGGGATTTCC
mu: CACCAAGGGATTTCC		 CCAG|ggga
Donor increased83654wt: 0.22 / mu: 0.85wt: TTTCCACCAGGGGAT
mu: TTTCCACCAAGGGAT		 TCCA|ccag
Acc gained836600.60mu: CGAGATTATTTTCCACCAAGGGATTTCCCAGGTCCACCACC aagg|GATT
Donor gained836530.94mu: TTTTCCACCAAGGGA TTCC|acca
distance from splice site 37
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      695MFGASRDYFPPGDFPGPPPAPFAM
mutated  not conserved    695MFGASRDYFPPRDFPGPPPAPFA
Ptroglodytes  not conserved  ENSPTRG00000006297  738MFGASRDYFPPRDFPGPPPAPFA
Mmulatta  not conserved  ENSMMUG00000021121  739GTSRDYFPPRDFPGPPHAPFA
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021000  740IYAAPRDYFPPRDFPGPPLPPFP
Ggallus  not conserved  ENSGALG00000010189  1259IYG-PRECFPVRDL-GLPRPPLP
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000023516  635------DYFPP---RGPHVL
Dmelanogaster  not conserved  FBgn0031842  1329-------------FMGLPP-PFL
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
502804COMPBIASPro-rich.lost
776776CONFLICTS -> F (in Ref. 2; AAN77610).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2286 / 2286
position (AA) of stopcodon in wt / mu AA sequence 762 / 762
position of stopcodon in wt / mu cDNA 2332 / 2332
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 47 / 47
chromosome 14
strand 1
last intron/exon boundary 2166
theoretical NMD boundary in CDS 2069
length of CDS 2286
coding sequence (CDS) position 2083
cDNA position
(for ins/del: last normal base / first normal base)		 2129
gDNA position
(for ins/del: last normal base / first normal base)		 83658
chromosomal position
(for ins/del: last normal base / first normal base)		 39818145
original gDNA sequence snippet CTCGAGATTATTTTCCACCAGGGGATTTCCCAGGTCCACCA
altered gDNA sequence snippet CTCGAGATTATTTTCCACCAAGGGATTTCCCAGGTCCACCA
original cDNA sequence snippet CTCGAGATTATTTTCCACCAGGGGATTTCCCAGGTCCACCA
altered cDNA sequence snippet CTCGAGATTATTTTCCACCAAGGGATTTCCCAGGTCCACCA
wildtype AA sequence MEEPGVTPQP YLGLLLEELR RVVAALPEGM RPDSNLYGFP WELVICAAVV GFFAVLFFLW
RSFRSVRSRL YVGREKKLAL MLSGLIEEKS KLLEKFSLVQ KEYEGYEVES SLKDASFEKE
ATEAQSLEAT CEKLNRSNSE LEDEILCLEK ELKEEKSKHS EQDELMADIS KRIQSLEDES
KSLKSQVAEA KMTFKIFQMN EERLKIAIKD ALNENSQLQE SQKQLLQEAE VWKEQVSELN
KQKVTFEDSK VHAEQVLNDK ESHIKTLTER LLKMKDWAAM LGEDITDDDN LELEMNSESE
NGAYLDNPPK GALKKLIHAA KLNASLKTLE GERNQIYIQL SEVDKTKEEL TEHIKNLQTE
QASLQSENTH FENENQKLQQ KLKVMTELYQ ENEMKLHRKL TVEENYRLEK EEKLSKVDEK
ISHATEELET YRKRAKDLEE ELERTIHSYQ GQIISHEKKA HDNWLAARNA ERNLNDLRKE
NAHNRQKLTE TELKFELLEK DPYALDVPNT AFGRGSRGPG NPLDHQITNE RGESSCDRLT
DPHRAPSDTG SLSPPWDQDR RMMFPPPGQS YPDSALPPQR QDRFCSNSGR LSGPAELRSF
NMPSLDKMDG SMPSEMESSR NDTKDDLGNL NVPDSSLPAE NEATGPGFVP PPLAPIRGPL
FPVDARGPFL RRGPPFPPPP PGAMFGASRD YFPPGDFPGP PPAPFAMRNV YPPRGFPPYL
PPRPGFFPPP PHSEGRSEFP SGLIPPSNEP ATEHPEPQQE T*
mutated AA sequence MEEPGVTPQP YLGLLLEELR RVVAALPEGM RPDSNLYGFP WELVICAAVV GFFAVLFFLW
RSFRSVRSRL YVGREKKLAL MLSGLIEEKS KLLEKFSLVQ KEYEGYEVES SLKDASFEKE
ATEAQSLEAT CEKLNRSNSE LEDEILCLEK ELKEEKSKHS EQDELMADIS KRIQSLEDES
KSLKSQVAEA KMTFKIFQMN EERLKIAIKD ALNENSQLQE SQKQLLQEAE VWKEQVSELN
KQKVTFEDSK VHAEQVLNDK ESHIKTLTER LLKMKDWAAM LGEDITDDDN LELEMNSESE
NGAYLDNPPK GALKKLIHAA KLNASLKTLE GERNQIYIQL SEVDKTKEEL TEHIKNLQTE
QASLQSENTH FENENQKLQQ KLKVMTELYQ ENEMKLHRKL TVEENYRLEK EEKLSKVDEK
ISHATEELET YRKRAKDLEE ELERTIHSYQ GQIISHEKKA HDNWLAARNA ERNLNDLRKE
NAHNRQKLTE TELKFELLEK DPYALDVPNT AFGRGSRGPG NPLDHQITNE RGESSCDRLT
DPHRAPSDTG SLSPPWDQDR RMMFPPPGQS YPDSALPPQR QDRFCSNSGR LSGPAELRSF
NMPSLDKMDG SMPSEMESSR NDTKDDLGNL NVPDSSLPAE NEATGPGFVP PPLAPIRGPL
FPVDARGPFL RRGPPFPPPP PGAMFGASRD YFPPRDFPGP PPAPFAMRNV YPPRGFPPYL
PPRPGFFPPP PHSEGRSEFP SGLIPPSNEP ATEHPEPQQE T*
speed 1.02 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