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 ENST00000526202
Genbank transcript ID N/A
UniProt peptide Q8WWI1
alteration type single base exchange
alteration region CDS
DNA changes c.1522G>A
cDNA.1602G>A
g.203162G>A
AA changes V508I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 508
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      508TMDDAWKYNGDVEDIKRTPNNVVS
mutated  all conserved    508TMDDAWKYNGDIEDIKRTPNNVV
Ptroglodytes  all identical  ENSPTRG00000005935  609TMDDAWKYNGDVEDIKRTPNNVV
Mmulatta  all conserved  ENSMMUG00000001312  869KNVLSSFISISKIANASTNCK
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000033060  938DVEVVKREQLDLG
Ggallus  all identical  ENSGALG00000016920  852TMDDAQKYNGEVEKAKGT-QTLT
Trubripes  not conserved  ENSTRUG00000010628  898DDPQSRVNGDGSKKSAAPSRYQ
Drerio  not conserved  ENSDARG00000004930  1102MDDSVKRTNGESNSLKKTAVQNRY
Dmelanogaster  no alignment  FBgn0051534  n/a
Celegans  not conserved  F28F5.3  302KQPPPREGVKPFVSRAAQDIT
Xtropicalis  all conserved  ENSXETG00000004710  927KYNGDLGSTK---NNSA
protein features
start (aa)end (aa)featuredetails 
522522CONFLICTV -> A (in Ref. 5; AAF04521).might get lost (downstream of altered splice site)
584584MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
613613CONFLICTF -> L (in Ref. 5; AAF04521).might get lost (downstream of altered splice site)
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 3828 / 3828
position (AA) of stopcodon in wt / mu AA sequence 1276 / 1276
position of stopcodon in wt / mu cDNA 3908 / 3908
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 81 / 81
chromosome 13
strand 1
last intron/exon boundary 3886
theoretical NMD boundary in CDS 3755
length of CDS 3828
coding sequence (CDS) position 1522
cDNA position
(for ins/del: last normal base / first normal base)		 1602
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 MLWRTERLYK PYVFFFKYTY AWVLLLPLLL TDNINVFLKA CEQIGLKEAQ LFHPGDLQDL
SNRVTVKQEE TDRRVKNVLI TLYWLGRKAQ SNPYYNGPHL NLKAFENLLG QALTKALEDS
SFLKRSGRDS GYGDIWCPER GEFLAPPRHH KREDSFESLD SLGSRSLTSC SSDITLRGGR
EGFESDTDSE FTFKMQDYNK DDMSYRRISA VEPKTALPFN RFLPNKSRQP SYVPAPLRKK
KPDKHEDNRR SWASPVYTEA DGTFSRSKSM 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 KADWGKDQPS LPFIRHKTLN LTSMATKIIG
SPETKWIDAT SGIYNSEKSS NLSVTTDFSE SLQSSNIESK EINGIHDESN AFESKASESI
SLKNLKRRSQ FFEQGSSDSV VPDLPVPTIS APSRWVWDQE EERKRQERWQ KEQDRLLQEK
YQREQEKLRE EWQRAKQEAE RENSKYLDEE LMVLSSNSMS LTTREPSLAT WEATWSEGSK
SSDREGTRAG EEERRQPQEE VVHEDQGKKP QDQLVIERER KWEQQLQEEQ EQKRLQAEAE
EQKRPAEEQK RQAEIERETS VRIYQYRRPV DSYDIPKTEE ASSGFLPGDR NKSRSTTELD
DYSTNKNGNN KYLDQIGNMT SSQRRSKKEQ VPSGAELERQ QILQEMRKRT PLHNDNSWIR
QRSASVNKEP VSLPGIMRRG ESLDNLDSPR SNSWRQPPWL NQPTGFYASS SVQDFSRPPP
QLVSTSNRAY MRNPSSSVPP PSAGSVKTST TGVATTQSPT PRSHSPSASQ SGSQLRNRSV
SGKRICSYCN NILGKGAAMI IESLGLCYHL HCFKCVACEC DLGGSSSGAE VRIRNHQLYC
NDCYLRFKSG RPTAM*
mutated AA sequence MLWRTERLYK PYVFFFKYTY AWVLLLPLLL TDNINVFLKA CEQIGLKEAQ LFHPGDLQDL
SNRVTVKQEE TDRRVKNVLI TLYWLGRKAQ SNPYYNGPHL NLKAFENLLG QALTKALEDS
SFLKRSGRDS GYGDIWCPER GEFLAPPRHH KREDSFESLD SLGSRSLTSC SSDITLRGGR
EGFESDTDSE FTFKMQDYNK DDMSYRRISA VEPKTALPFN RFLPNKSRQP SYVPAPLRKK
KPDKHEDNRR SWASPVYTEA DGTFSRSKSM 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 KADWGKDQPS LPFIRHKTLN LTSMATKIIG
SPETKWIDAT SGIYNSEKSS NLSVTTDFSE SLQSSNIESK EINGIHDESN AFESKASESI
SLKNLKRRSQ FFEQGSSDSV VPDLPVPTIS APSRWVWDQE EERKRQERWQ KEQDRLLQEK
YQREQEKLRE EWQRAKQEAE RENSKYLDEE LMVLSSNSMS LTTREPSLAT WEATWSEGSK
SSDREGTRAG EEERRQPQEE VVHEDQGKKP QDQLVIERER KWEQQLQEEQ EQKRLQAEAE
EQKRPAEEQK RQAEIERETS VRIYQYRRPV DSYDIPKTEE ASSGFLPGDR NKSRSTTELD
DYSTNKNGNN KYLDQIGNMT SSQRRSKKEQ VPSGAELERQ QILQEMRKRT PLHNDNSWIR
QRSASVNKEP VSLPGIMRRG ESLDNLDSPR SNSWRQPPWL NQPTGFYASS SVQDFSRPPP
QLVSTSNRAY MRNPSSSVPP PSAGSVKTST TGVATTQSPT PRSHSPSASQ SGSQLRNRSV
SGKRICSYCN NILGKGAAMI IESLGLCYHL HCFKCVACEC DLGGSSSGAE VRIRNHQLYC
NDCYLRFKSG RPTAM*
speed 1.11 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