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
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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 ENST00000341749
Genbank transcript ID NM_203354
UniProt peptide O15320
alteration type single base exchange
alteration region CDS
DNA changes c.1042G>C
cDNA.1145G>C
g.43189G>C
AA changes E348Q Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 348
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      348ELTEHIKNLQTEQASLQSENTHFE
mutated  all conserved    348ELTEHIKNLQTQQASLQSENTHF
Ptroglodytes  all identical  ENSPTRG00000006297  360ELTEHIKNLQTEQASLQSENTHF
Mmulatta  all identical  ENSMMUG00000021121  361ELTEHIKSLQTEQASLQSENTHF
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021000  364DLTEHIKSLESKQASLQSEKTEF
Ggallus  all identical  ENSGALG00000010189  871ELTERIENLQSEQVSLQSENERL
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000023516  276DLHEGIKQLEEQKELLVSESANY
Dmelanogaster  all conserved  FBgn0031842  1106QEEAHKQRLESQLQQSSQDVEQLKQDFNQS
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 2379 / 2379
position (AA) of stopcodon in wt / mu AA sequence 793 / 793
position of stopcodon in wt / mu cDNA 2482 / 2482
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 104 / 104
chromosome 14
strand 1
last intron/exon boundary 2316
theoretical NMD boundary in CDS 2162
length of CDS 2379
coding sequence (CDS) position 1042
cDNA position
(for ins/del: last normal base / first normal base)		 1145
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 MELKSPEEEV VAALPEGMRP DSNLYGFPWE LVICAAVVGF FAVLFFLWRS FRSVRSRLYV
GREKKLALML SGLIEEKSKL LEKFSLVQKE YEGYEVESSL KDASFEKEAT EAQSLEATCE
KLNRSNSELE DEILCLEKEL KEEKSKHSEQ DELMADISKR IQSLEDESKS LKSQVAEAKM
TFKIFQMNEE RLKIAIKDAL NENSQLQESQ KQLLQEAEVW KEQVSELNKQ KVTFEDSKVH
AEQVLNDKES HIKTLTERLL KMKDWAAMLG EDITDDDNLE LEMNSESENG AYLDNPPKGA
LKKLIHAAKL NASLKTLEGE RNQIYIQLSE VDKTKEELTE HIKNLQTEQA SLQSENTHFE
NENQKLQQKL KVMTELYQEN EMKLHRKLTV EENYRLEKEE KLSKVDEKIS HATEELETYR
KRAKDLEEEL ERTIHSYQGQ IISHEKKAHD NWLAARNAER NLNDLRKENA HNRQKLTETE
LKFELLEKDP YALDVPNTAF GREHSPYGPS PLGWPSSETR AFLSPPTLLE GPLRLSPLLP
GGGGRGSRGP GNPLDHQITN ERGESSCDRL TDPHRAPSDT GSLSPPWDQD RRMMFPPPGQ
SYPDSALPPQ RQDRFCSNSG RLSGPAELRS FNMPSLDKMD GSMPSEMESS RNDTKDDLGN
LNVPDSSLPA ENEATGPGFV PPPLAPIRGP LFPVDARGPF LRRGPPFPPP PPGAMFGASR
DYFPPGDFPG PPPAPFAMRN VYPPRGFPPY LPPRPGFFPP PPHSEGRSEF PSGLIPPSNE
PATEHPEPQQ ET*
mutated AA sequence MELKSPEEEV VAALPEGMRP DSNLYGFPWE LVICAAVVGF FAVLFFLWRS FRSVRSRLYV
GREKKLALML SGLIEEKSKL LEKFSLVQKE YEGYEVESSL KDASFEKEAT EAQSLEATCE
KLNRSNSELE DEILCLEKEL KEEKSKHSEQ DELMADISKR IQSLEDESKS LKSQVAEAKM
TFKIFQMNEE RLKIAIKDAL NENSQLQESQ KQLLQEAEVW KEQVSELNKQ KVTFEDSKVH
AEQVLNDKES HIKTLTERLL KMKDWAAMLG EDITDDDNLE LEMNSESENG AYLDNPPKGA
LKKLIHAAKL NASLKTLEGE RNQIYIQLSE VDKTKEELTE HIKNLQTQQA SLQSENTHFE
NENQKLQQKL KVMTELYQEN EMKLHRKLTV EENYRLEKEE KLSKVDEKIS HATEELETYR
KRAKDLEEEL ERTIHSYQGQ IISHEKKAHD NWLAARNAER NLNDLRKENA HNRQKLTETE
LKFELLEKDP YALDVPNTAF GREHSPYGPS PLGWPSSETR AFLSPPTLLE GPLRLSPLLP
GGGGRGSRGP GNPLDHQITN ERGESSCDRL TDPHRAPSDT GSLSPPWDQD RRMMFPPPGQ
SYPDSALPPQ RQDRFCSNSG RLSGPAELRS FNMPSLDKMD GSMPSEMESS RNDTKDDLGN
LNVPDSSLPA ENEATGPGFV PPPLAPIRGP LFPVDARGPF LRRGPPFPPP PPGAMFGASR
DYFPPGDFPG PPPAPFAMRN VYPPRGFPPY LPPRPGFFPP PPHSEGRSEF PSGLIPPSNE
PATEHPEPQQ ET*
speed 0.67 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