Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.998128675694363 (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) chr14:39777676G>CN/A show variant in all transcripts   IGV
HGNC symbol MIA2
Ensembl transcript ID ENST00000557038
Genbank transcript ID N/A
UniProt peptide O15320
alteration type single base exchange
alteration region CDS
DNA changes c.838G>C
cDNA.1106G>C
g.43189G>C
AA changes E280Q Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 280
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      280ELTEHIKNLQTEQASLQSENTHFE
mutated  all conserved    280ELTEHIKNLQTQQASLQSENTHF
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 no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2175 / 2175
position (AA) of stopcodon in wt / mu AA sequence 725 / 725
position of stopcodon in wt / mu cDNA 2443 / 2443
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 269 / 269
chromosome 14
strand 1
last intron/exon boundary 2277
theoretical NMD boundary in CDS 1958
length of CDS 2175
coding sequence (CDS) position 838
cDNA position
(for ins/del: last normal base / first normal base)		 1106
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 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 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 1.28 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