Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.977701315723239 (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) chr10:69933969G>AN/A show variant in all transcripts   IGV
HGNC symbol MYPN
Ensembl transcript ID ENST00000540630
Genbank transcript ID N/A
UniProt peptide Q86TC9
alteration type single base exchange
alteration region CDS
DNA changes c.2120G>A
cDNA.2608G>A
g.68058G>A
AA changes S707N Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 707
frameshift no
known variant Reference ID: rs7916821
databasehomozygous (A/A)heterozygousallele carriers
1000G29410401334
ExAC11716933521051
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0170.566
1.20.927
(flanking)2.0320.997
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased68056wt: 0.8889 / mu: 0.9341 (marginal change - not scored)wt: ACATCCAGTAAGCAG
mu: ACATCCAATAAGCAG		 ATCC|agta
Donor increased68060wt: 0.40 / mu: 0.60wt: CCAGTAAGCAGGTGA
mu: CCAATAAGCAGGTGA		 AGTA|agca
Donor gained680530.47mu: ACAACATCCAATAAG AACA|tcca
distance from splice site 147
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      707NSNAPPAVTTSSKQVKAPSSQTFS
mutated  all conserved    707NSNAPPAVTTSNKQVKAPSSQTF
Ptroglodytes  all identical  ENSPTRG00000002550  707NSTAPPAVTISSKQVKAPSSQTF
Mmulatta  all identical  ENSMMUG00000006867  706NSTAPPAVTTSSKQVKAPSSQTF
Fcatus  all identical  ENSFCAG00000003424  707NSTASPAVTMSSKQVKPPSSQTF
Mmusculus  all identical  ENSMUSG00000020067  704NS-APPAVTISSKQVKGPAPQMF
Ggallus  not conserved  ENSGALG00000003925  713TTYKQSKASVSQAF
Trubripes  not conserved  ENSTRUG00000017955  679------------
Drerio  all conserved  ENSDARG00000076485  412PASIPPPPAGPAPILKATPASQSTQSF
Dmelanogaster  no alignment  FBgn0052311  n/a
Celegans  no alignment  F21C10.7  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
759759MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
784856COMPBIASPro-rich.might get lost (downstream of altered splice site)
813813MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
818818MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
867867MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
908908CONFLICTF -> L (in Ref. 2; CAD89906).might get lost (downstream of altered splice site)
928928MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
9451029DOMAINIg-like 3.might get lost (downstream of altered splice site)
9451320REGIONInteraction with ACTN.might get lost (downstream of altered splice site)
991991CONFLICTH -> R (in Ref. 2; CAD38923).might get lost (downstream of altered splice site)
10731162DOMAINIg-like 4.might get lost (downstream of altered splice site)
10781078CONFLICTA -> T (in Ref. 2; CAD91155).might get lost (downstream of altered splice site)
10941094DISULFIDBy similarity.might get lost (downstream of altered splice site)
11181118CONFLICTS -> P (in Ref. 2; CAD38923).might get lost (downstream of altered splice site)
11461146DISULFIDBy similarity.might get lost (downstream of altered splice site)
11721262DOMAINIg-like 5.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3963 / 3963
position (AA) of stopcodon in wt / mu AA sequence 1321 / 1321
position of stopcodon in wt / mu cDNA 4451 / 4451
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 489 / 489
chromosome 10
strand 1
last intron/exon boundary 4282
theoretical NMD boundary in CDS 3743
length of CDS 3963
coding sequence (CDS) position 2120
cDNA position
(for ins/del: last normal base / first normal base)		 2608
gDNA position
(for ins/del: last normal base / first normal base)		 68058
chromosomal position
(for ins/del: last normal base / first normal base)		 69933969
original gDNA sequence snippet CCCAGCGGTGACAACATCCAGTAAGCAGGTGAAGGCTCCTT
altered gDNA sequence snippet CCCAGCGGTGACAACATCCAATAAGCAGGTGAAGGCTCCTT
original cDNA sequence snippet CCCAGCGGTGACAACATCCAGTAAGCAGGTGAAGGCTCCTT
altered cDNA sequence snippet CCCAGCGGTGACAACATCCAATAAGCAGGTGAAGGCTCCTT
wildtype AA sequence MQDDSIEAST SISQLLRESY LAETRHRGNN ERSRAEPSSN PCHFGSPSGA AEGGGGQDDL
PDLSAFLSQE ELDESVNLAR LAINYDPLEK ADETQARKRL SPDQMKHSPN LSFEPNFCQD
NPRSPTSSKE SPQEAKRPQY CSETQSKKVF LNKAADFIEE LSSLFKSHSS KRIRPRACKN
HKSKLESQNK VMQENSSSFS DLSERRERSS VPIPIPADTR DNEVNHALEQ QEAKRREAEQ
AASEAAGGDT TPGSSPSSLY YEEPLGQPPR FTQKLRSREV PEGTRVQLDC IVVGIPPPQV
RWYCEGKELE NSPDIHIVQA GNLHSLTIAE AFEEDTGRYS CFASNIYGTD STSAEIYIEG
VSSSDSEGDP NKEEMNRIQK PNEVSSPPTT SAVIPPAVPQ AQHLVAQPRV ATIQQCQSPT
NYLQGLDGKP IIAAPVFTKM LQNLSASEGQ LVVFECRVKG APSPKVEWYR EGTLIEDSPD
FRILQKRPVC MEHIEEICTL VIAEVFAEDS GCFTCTASNK YGTVSSIAQL HVRGNEDLSN
NGSLHSANST TNLAAIEPQP SPPHSEPPSV EQPPKPKLEG VLVNHNEPRS SSRIGLRVHF
NLPEDDKGSE ASSEAGVVTT RQTRPDSFQE RFNGQATKTP EPSSPVKEPP PVLAKPKLDS
TQLQQLHNQV LLEQHQLQNP PPSSPKEFPF SMTVLNSNAP PAVTTSSKQV KAPSSQTFSL
ARPKYFFPST NTTAATVAPS SSPVFTLSST PQTIQRTVSK ESLLVSHPSV QTKSPGGLSI
QNEPLPPGPT EPTPPPFTFS IPSGNQFQPR CVSPIPVSPT SRIQNPVAFL SSVLPSLPAI
PPTNAMGLPR SAPSMPSQGL AKKNTKSPQP VNDDNIRETK NAVIRDLGKK ITFSDVRPNQ
QEYKISSFEQ RLMNEIEFRL ERTPVDESDD EIQHDEIPTG KCIAPIFDKR LKHFRVTEGS
PVTFTCKIVG IPVPKVYWFK DGKQISKRNE HCKMRREGDG TCSLHIESTT SDDDGNYTIM
AANPQGRISC SGHLMVQSLP IRSRLTSAGQ SHRGRSRVQE RDKEPLQERF FRPHFLQAPG
DMVAHEGRLC RLDCKVSGLP PPELTWLLNG QPVLPDASHK MLVRETGVHS LLIDPLTQRD
AGTYKCIATN KTGQNSFSLE LSVVAKEVKK APVILEKLQN CGVPEGHPVR LECRVIGMPP
PVFYWKKDNE TIPCTRERIS MHQDTTGYAC LLIQPAKKSD AGWYTLSAKN EAGIVSCTAR
LDIYAQWHHQ IPPPMSVRPS GSRYGSLTSK GLDIFSAFSS MESTMVYSCS SRSVVESDEL
*
mutated AA sequence MQDDSIEAST SISQLLRESY LAETRHRGNN ERSRAEPSSN PCHFGSPSGA AEGGGGQDDL
PDLSAFLSQE ELDESVNLAR LAINYDPLEK ADETQARKRL SPDQMKHSPN LSFEPNFCQD
NPRSPTSSKE SPQEAKRPQY CSETQSKKVF LNKAADFIEE LSSLFKSHSS KRIRPRACKN
HKSKLESQNK VMQENSSSFS DLSERRERSS VPIPIPADTR DNEVNHALEQ QEAKRREAEQ
AASEAAGGDT TPGSSPSSLY YEEPLGQPPR FTQKLRSREV PEGTRVQLDC IVVGIPPPQV
RWYCEGKELE NSPDIHIVQA GNLHSLTIAE AFEEDTGRYS CFASNIYGTD STSAEIYIEG
VSSSDSEGDP NKEEMNRIQK PNEVSSPPTT SAVIPPAVPQ AQHLVAQPRV ATIQQCQSPT
NYLQGLDGKP IIAAPVFTKM LQNLSASEGQ LVVFECRVKG APSPKVEWYR EGTLIEDSPD
FRILQKRPVC MEHIEEICTL VIAEVFAEDS GCFTCTASNK YGTVSSIAQL HVRGNEDLSN
NGSLHSANST TNLAAIEPQP SPPHSEPPSV EQPPKPKLEG VLVNHNEPRS SSRIGLRVHF
NLPEDDKGSE ASSEAGVVTT RQTRPDSFQE RFNGQATKTP EPSSPVKEPP PVLAKPKLDS
TQLQQLHNQV LLEQHQLQNP PPSSPKEFPF SMTVLNSNAP PAVTTSNKQV KAPSSQTFSL
ARPKYFFPST NTTAATVAPS SSPVFTLSST PQTIQRTVSK ESLLVSHPSV QTKSPGGLSI
QNEPLPPGPT EPTPPPFTFS IPSGNQFQPR CVSPIPVSPT SRIQNPVAFL SSVLPSLPAI
PPTNAMGLPR SAPSMPSQGL AKKNTKSPQP VNDDNIRETK NAVIRDLGKK ITFSDVRPNQ
QEYKISSFEQ RLMNEIEFRL ERTPVDESDD EIQHDEIPTG KCIAPIFDKR LKHFRVTEGS
PVTFTCKIVG IPVPKVYWFK DGKQISKRNE HCKMRREGDG TCSLHIESTT SDDDGNYTIM
AANPQGRISC SGHLMVQSLP IRSRLTSAGQ SHRGRSRVQE RDKEPLQERF FRPHFLQAPG
DMVAHEGRLC RLDCKVSGLP PPELTWLLNG QPVLPDASHK MLVRETGVHS LLIDPLTQRD
AGTYKCIATN KTGQNSFSLE LSVVAKEVKK APVILEKLQN CGVPEGHPVR LECRVIGMPP
PVFYWKKDNE TIPCTRERIS MHQDTTGYAC LLIQPAKKSD AGWYTLSAKN EAGIVSCTAR
LDIYAQWHHQ IPPPMSVRPS GSRYGSLTSK GLDIFSAFSS MESTMVYSCS SRSVVESDEL
*
speed 1.05 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