Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999985644 (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) chr13:76397731G>AN/A show variant in all transcripts   IGV
HGNC symbol LMO7
Ensembl transcript ID ENST00000321797
Genbank transcript ID N/A
UniProt peptide Q8WWI1
alteration type single base exchange
alteration region CDS
DNA changes c.1972G>A
cDNA.2693G>A
g.203162G>A
AA changes V658I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 658
frameshift no
known variant Reference ID: rs4884021
databasehomozygous (A/A)heterozygousallele carriers
1000G2028961098
ExAC24461762520071
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0820.115
-0.2680.001
(flanking)0.3980.001
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 increased203167wt: 0.5194 / mu: 0.5671 (marginal change - not scored)wt: GTTGAAGACATTAAG
mu: ATTGAAGACATTAAG		 TGAA|gaca
Donor increased203162wt: 0.61 / mu: 0.92wt: GAGATGTTGAAGACA
mu: GAGATATTGAAGACA		 GATG|ttga
Donor gained2031580.45mu: AATGGAGATATTGAA TGGA|gata
distance from splice site 31
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      658TMDDAWKYNGDVEDIKRTPNNVVS
mutated  all conserved    658TMDDAWKYNGDIED
Ptroglodytes  all identical  ENSPTRG00000005935  609TMDDAWKYNGDVEDIKRTPNNVV
Mmulatta  all conserved  ENSMMUG00000001312  869TVKNVLSSFISISK
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000033060  938TMDDGWKYNGDVEVVKREQLDLG
Ggallus  all identical  ENSGALG00000016920  852DAQKYNGEVEKAKGT-QTLT
Trubripes  not conserved  ENSTRUG00000010628  898TVDDPQSRVNGDGSKKSAAPSRYQ
Drerio  not conserved  ENSDARG00000004930  1103NGESNSLKKTAVQNRY
Dmelanogaster  no alignment  FBgn0051534  n/a
Celegans  not conserved  F28F5.3  302RVEATFKQPPPREGVKPFVSRAAQDIT
Xtropicalis  all conserved  ENSXETG00000004710  927TVDDSFKYNGDLGSTK---NNSA
protein features
start (aa)end (aa)featuredetails 
704704MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
706706MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
709709MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
805805MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
867867MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
873873MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
891891CONFLICTR -> C (in Ref. 6; AAD33924).might get lost (downstream of altered splice site)
895895MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
913913MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
919919MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
926926MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
932932MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
943943CONFLICTV -> I (in Ref. 1; AAL37480 and 6; AAD33924).might get lost (downstream of altered splice site)
949949MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
955955MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
956956MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
960960MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
988988MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
991991MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
994994MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
995995MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10261026MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10381046STRANDmight get lost (downstream of altered splice site)
10421128DOMAINPDZ.might get lost (downstream of altered splice site)
10441044MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10481048MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
10561062STRANDmight get lost (downstream of altered splice site)
10651071STRANDmight get lost (downstream of altered splice site)
10761079HELIXmight get lost (downstream of altered splice site)
10871091STRANDmight get lost (downstream of altered splice site)
11011114HELIXmight get lost (downstream of altered splice site)
11161124STRANDmight get lost (downstream of altered splice site)
11971197MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14231423MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14471447CONFLICTM -> T (in Ref. 6; AAD33924/AAB86592).might get lost (downstream of altered splice site)
14931493MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15101510MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15161516MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15631563MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15861586MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15881588MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
15931593MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15951595MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15971597MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16011601MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16121678DOMAINLIM zinc-binding.might get lost (downstream of altered splice site)
16721672MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4197 / 4197
position (AA) of stopcodon in wt / mu AA sequence 1399 / 1399
position of stopcodon in wt / mu cDNA 4918 / 4918
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 722 / 722
chromosome 13
strand 1
last intron/exon boundary 4896
theoretical NMD boundary in CDS 4124
length of CDS 4197
coding sequence (CDS) position 1972
cDNA position
(for ins/del: last normal base / first normal base)		 2693
gDNA position
(for ins/del: last normal base / first normal base)		 203162
chromosomal position
(for ins/del: last normal base / first normal base)		 76397731
original gDNA sequence snippet CTTGGAAGTATAATGGAGATGTTGAAGACATTAAGAGAACT
altered gDNA sequence snippet CTTGGAAGTATAATGGAGATATTGAAGACATTAAGAGAACT
original cDNA sequence snippet CTTGGAAGTATAATGGAGATGTTGAAGACATTAAGAGAACT
altered cDNA sequence snippet CTTGGAAGTATAATGGAGATATTGAAGACATTAAGAGAACT
wildtype AA sequence MQDYNKDDMS YRRISAVEPK TALPFNRFLP NKSRQPSYVP APLRKKKPDK HEDNRRSWAS
PVYTEADGTF SSNQRRIWGT NVENWPTVQG TSKSSCYLEE EKAKTRSIPN IVKDDLYVRK
LSPVMPNPGN AFDQFLPKCW TPEDVNWKRI KRETYKPWYK EFQGFSQFLL LQALQTYSDD
ILSSETHTKI DPTSGPRLIT RRKNLSYAPG YRRDDLEMAA LDPDLENDDF FVRKTGAFHA
NPYVLRAFED FRKFSEQDDS VERDIILQCR EGELVLPDLE KDDMIVRRIP AQKKEVPLSG
APDRYHPVPF PEPWTLPPEI QAKFLCVLER TCPSKEKSNS CRILVPSYRQ KKDDMLTRKI
QSWKLGTTVP PISFTPGPCS EADLKRWEAI REASRLRHKK RLMVERLFQK IYGENGSKSM
SDVSAEDVQN LRQLRYEEMQ KIKSQLKEQD QKWQDDLAKW KDRRKSYTSD LQKKKEEREE
IEKQALEKSK RSSKTFKEML QDRESQNQKS TVPSRRRMYS FDDVLEEGKR PPTMTVSEAS
YQSERVEEKG ATYPSEIPKE DSTTFAKRED RVTTEIQLPS QSPVEEQSPA SLSSLRSRST
QMESTRVSAS LPRSYRKTDT VRLTSVVTPR PFGSQTRGIS SLPRSYTMDD AWKYNGDVED
IKRTPNNVVS TPAPSPDASQ LASSLSSQKE VAATEEDVTR LPSPTSPFSS LSQDQAATSK
ATLSSTSGLD LMSESGEGEI SPQREVSRSQ DQFSDMRISI NQTPGKSLDF GFTIKWDIPG
IFVASVEAGS PAEFSQLQVD DEIIAINNTK FSYNDSKEWE EAMAKAQETG HLVMDVRRYG
KAGSPETKWI DATSGIYNSE KSSNLSVTTD FSESLQSSNI ESKEINGIHD ESNAFESKAS
ESISLKNLKR RSQFFEQGSS DSVVPDLPVP TISAPSRWVW DQEEERKRQE RWQKEQDRLL
QEKYQREQEK LREEWQRAKQ EAERENSKYL DEELMVLSSN SMSLTTREPS LATWEATWSE
GSKSSDREGT RAGEEERRQP QEEVVHEDQG KKPQDQLVIE RERKWEQQLQ EEQEQKRLQA
EAEEQKRPAE EQKRQAEIER ETSVRIYQYR RPVDSYDIPK TEEASSGFLP GDRNKSRSTT
ELDDYSTNKN GNNKYLDQIG NMTSSQRRSK KEQVPSGAEL ERQQILQEMR KRTPLHNDNS
WIRQRSASVN KEPVSLPGIM RRGESLDNLD SPRSNSWRQP PWLNQPTGFY ASSSVQDFSR
PPPQLVSTSN RAYMRNPSSS VPPPSAGSVK TSTTGVATTQ SPTPRSHSPS ASQSGSQLRN
RSVSGKRICS YCNNILGKGA AMIIESLGLC YHLHCFKCVA CECDLGGSSS GAEVRIRNHQ
LYCNDCYLRF KSGRPTAM*
mutated AA sequence MQDYNKDDMS YRRISAVEPK TALPFNRFLP NKSRQPSYVP APLRKKKPDK HEDNRRSWAS
PVYTEADGTF SSNQRRIWGT NVENWPTVQG TSKSSCYLEE EKAKTRSIPN IVKDDLYVRK
LSPVMPNPGN AFDQFLPKCW TPEDVNWKRI KRETYKPWYK EFQGFSQFLL LQALQTYSDD
ILSSETHTKI DPTSGPRLIT RRKNLSYAPG YRRDDLEMAA LDPDLENDDF FVRKTGAFHA
NPYVLRAFED FRKFSEQDDS VERDIILQCR EGELVLPDLE KDDMIVRRIP AQKKEVPLSG
APDRYHPVPF PEPWTLPPEI QAKFLCVLER TCPSKEKSNS CRILVPSYRQ KKDDMLTRKI
QSWKLGTTVP PISFTPGPCS EADLKRWEAI REASRLRHKK RLMVERLFQK IYGENGSKSM
SDVSAEDVQN LRQLRYEEMQ KIKSQLKEQD QKWQDDLAKW KDRRKSYTSD LQKKKEEREE
IEKQALEKSK RSSKTFKEML QDRESQNQKS TVPSRRRMYS FDDVLEEGKR PPTMTVSEAS
YQSERVEEKG ATYPSEIPKE DSTTFAKRED RVTTEIQLPS QSPVEEQSPA SLSSLRSRST
QMESTRVSAS LPRSYRKTDT VRLTSVVTPR PFGSQTRGIS SLPRSYTMDD AWKYNGDIED
IKRTPNNVVS TPAPSPDASQ LASSLSSQKE VAATEEDVTR LPSPTSPFSS LSQDQAATSK
ATLSSTSGLD LMSESGEGEI SPQREVSRSQ DQFSDMRISI NQTPGKSLDF GFTIKWDIPG
IFVASVEAGS PAEFSQLQVD DEIIAINNTK FSYNDSKEWE EAMAKAQETG HLVMDVRRYG
KAGSPETKWI DATSGIYNSE KSSNLSVTTD FSESLQSSNI ESKEINGIHD ESNAFESKAS
ESISLKNLKR RSQFFEQGSS DSVVPDLPVP TISAPSRWVW DQEEERKRQE RWQKEQDRLL
QEKYQREQEK LREEWQRAKQ EAERENSKYL DEELMVLSSN SMSLTTREPS LATWEATWSE
GSKSSDREGT RAGEEERRQP QEEVVHEDQG KKPQDQLVIE RERKWEQQLQ EEQEQKRLQA
EAEEQKRPAE EQKRQAEIER ETSVRIYQYR RPVDSYDIPK TEEASSGFLP GDRNKSRSTT
ELDDYSTNKN GNNKYLDQIG NMTSSQRRSK KEQVPSGAEL ERQQILQEMR KRTPLHNDNS
WIRQRSASVN KEPVSLPGIM RRGESLDNLD SPRSNSWRQP PWLNQPTGFY ASSSVQDFSR
PPPQLVSTSN RAYMRNPSSS VPPPSAGSVK TSTTGVATTQ SPTPRSHSPS ASQSGSQLRN
RSVSGKRICS YCNNILGKGA AMIIESLGLC YHLHCFKCVA CECDLGGSSS GAEVRIRNHQ
LYCNDCYLRF KSGRPTAM*
speed 1.08 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