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 ENST00000280083
Genbank transcript ID NM_005930
UniProt peptide O15320
alteration type single base exchange
alteration region CDS
DNA changes c.1078G>C
cDNA.1392G>C
g.43189G>C
AA changes E360Q Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 360
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      360ELTEHIKNLQTEQASLQSENTHFE
mutated  all conserved    360ELTEHIKNLQTQQASLQSENTHF
Ptroglodytes  all identical  ENSPTRG00000006297  360ELTEHIKNLQTEQASLQSENTHF
Mmulatta  all identical  ENSMMUG00000021121  361ELTEHIKSLQTEQASLQSEN
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  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 2415 / 2415
position (AA) of stopcodon in wt / mu AA sequence 805 / 805
position of stopcodon in wt / mu cDNA 2729 / 2729
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 315 / 315
chromosome 14
strand 1
last intron/exon boundary 2563
theoretical NMD boundary in CDS 2198
length of CDS 2415
coding sequence (CDS) position 1078
cDNA position
(for ins/del: last normal base / first normal base)		 1392
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
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 AFGREHSPYG PSPLGWPSSE TRAFLSPPTL
LEGPLRLSPL LPGGGGRGSR GPGNPLDHQI TNERGESSCD RLTDPHRAPS DTGSLSPPWD
QDRRMMFPPP GQSYPDSALP PQRQDRFCSN SGRLSGPAEL RSFNMPSLDK MDGSMPSEME
SSRNDTKDDL GNLNVPDSSL PAENEATGPG FVPPPLAPIR GPLFPVDARG PFLRRGPPFP
PPPPGAMFGA SRDYFPPGDF PGPPPAPFAM RNVYPPRGFP PYLPPRPGFF PPPPHSEGRS
EFPSGLIPPS NEPATEHPEP QQET*
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 TEHIKNLQTQ
QASLQSENTH FENENQKLQQ KLKVMTELYQ ENEMKLHRKL TVEENYRLEK EEKLSKVDEK
ISHATEELET YRKRAKDLEE ELERTIHSYQ GQIISHEKKA HDNWLAARNA ERNLNDLRKE
NAHNRQKLTE TELKFELLEK DPYALDVPNT AFGREHSPYG PSPLGWPSSE TRAFLSPPTL
LEGPLRLSPL LPGGGGRGSR GPGNPLDHQI TNERGESSCD RLTDPHRAPS DTGSLSPPWD
QDRRMMFPPP GQSYPDSALP PQRQDRFCSN SGRLSGPAEL RSFNMPSLDK MDGSMPSEME
SSRNDTKDDL GNLNVPDSSL PAENEATGPG FVPPPLAPIR GPLFPVDARG PFLRRGPPFP
PPPPGAMFGA SRDYFPPGDF PGPPPAPFAM RNVYPPRGFP PYLPPRPGFF PPPPHSEGRS
EFPSGLIPPS NEPATEHPEP QQET*
speed 1.32 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