Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999990562 (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 ENST00000377534
Genbank transcript ID N/A
UniProt peptide Q8WWI1
alteration type single base exchange
alteration region CDS
DNA changes c.2827G>A
cDNA.4087G>A
g.203162G>A
AA changes V943I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 943
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      943TMDDAWKYNGDVEDIKRTPNNVVS
mutated  all conserved    943TMDDAWKYNGDIEDIKRTPNNVV
Ptroglodytes  all identical  ENSPTRG00000005935  609TMDDAWKYNGDVEDIKRTPNNVV
Mmulatta  all conserved  ENSMMUG00000001312  869TVKNVLSSFISISKIANASTNCK
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000033060  938TMDDGWKYNGDVEVVKREQLDLG
Ggallus  all identical  ENSGALG00000016920  852TMDDAQKYNGEVEKAKGT-QTLT
Trubripes  not conserved  ENSTRUG00000010628  898TVDDPQSRVNGDGSKKSAAPSRYQQF
Drerio  not conserved  ENSDARG00000004930  1103NGESNSLKKTAVQNRY
Dmelanogaster  no alignment  FBgn0051534  n/a
Celegans  not conserved  F28F5.3  302RVEATFKQPPPREGVKPFVSRAAQDIT
Xtropicalis  not conserved  ENSXETG00000004710  927TVDDSFKYNG---DLGSTKNNSA
protein features
start (aa)end (aa)featuredetails 
943943CONFLICTV -> I (in Ref. 1; AAL37480 and 6; AAD33924).lost
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 4845 / 4845
position (AA) of stopcodon in wt / mu AA sequence 1615 / 1615
position of stopcodon in wt / mu cDNA 6105 / 6105
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 1261 / 1261
chromosome 13
strand 1
last intron/exon boundary 6078
theoretical NMD boundary in CDS 4767
length of CDS 4845
coding sequence (CDS) position 2827
cDNA position
(for ins/del: last normal base / first normal base)		 4087
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 MKKIRICHIF TFYSWMSYDV LFQRTELGAL EIWRQLICAH VCICVGWLYL RDRVCSKKDI
ILRTEQNSGR TILIKAVTEK NFETKDFRAS LENGVLLCDL INKLKPGVIK KINRLSTPIA
GLDNINVFLK ACEQIGLKEA QLFHPGDLQD LSNRVTVKQE ETDRRVKNVL ITLYWLGRKA
QSNPYYNGPH LNLKAFENLL GQALTKALED SSFLKRSGRD SGYGDIWCPE RGEFLAPPRH
HKREDSFESL DSLGSRSLTS CSSDITLRGG REGFESDTDS EFTFKMQDYN KDDMSYRRIS
AVEPKTALPF NRFLPNKSRQ PSYVPAPLRK KKPDKHEDNR RSWASPVYTE ADGTFSSNQR
RIWGTNVENW PTVQGTSKSS CYLEEEKAKT RSIPNIVKDD LYVRKLSPVM PNPGNAFDQF
LPKCWTPEDV NWKRIKRETY KPWYKEFQGF SQFLLLQALQ TYSDDILSSE THTKIDPTSG
PRLITRRKNL SYAPGYRRDD LEMAALDPDL ENDDFFVRKT GAFHANPYVL RAFEDFRKFS
EQDDSVERDI ILQCREGELV LPDLEKDDMI VRRIPAQKKE VPLSGAPDRY HPVPFPEPWT
LPPEIQAKFL CVLERTCPSK EKSNSCRILV PSYRQKKDDM LTRKIQSWKL GTTVPPISFT
PGPCSEADLK RWEAIREASR LRHKKRLMVE RLFQKIYGEN GSKSMSDVSA EDVQNLRQLR
YEEMQKIKSQ LKEQDQKWQD DLAKWKDRRK SYTSDLQKKK EEREEIEKQA LEKSKRSSKT
FKEMLQDRES QNQKSTVPSR RRMYSFDDVL EEGKRPPTMT VSEASYQSER VEEKGATYPS
EIPKEDSTTF AKREDRVTTE IQLPSQSPVE EQSPASLSSL RSRSTQMEST RVSASLPRSY
RKTDTVRLTS VVTPRPFGSQ TRGISSLPRS YTMDDAWKYN GDVEDIKRTP NNVVSTPAPS
PDASQLASSL SSQKEVAATE EDVTRLPSPT SPFSSLSQDQ AATSKATLSS TSGLDLMSES
GEGEISPQRE VSRSQDQFSD MRISINQTPG KSLDFGFTIK WDIPGIFVAS VEAGSPAEFS
QLQVDDEIIA INNTKFSYND SKEWEEAMAK AQETGHLVMD VRRYGKAGSP ETKWIDATSG
IYNSEKSSNL SVTTDFSESL QSSNIESKEI NGIHDESNAF ESKASESISL KNLKRRSQFF
EQGSSDSVVP DLPVPTISAP SRWVWDQEEE RKRQERWQKE QDRLLQEKYQ REQEKLREEW
QRAKQEAERE NSKYLDEELM VLSSNSMSLT TREPSLATWE ATWSEGSKSS DREGTRAGEE
ERRQPQEEVV HEDQGKKPQD QLVIERERKW EQQLQEEQEQ KRLQAEAEEQ KRPAEEQKRQ
AEIERETSVR IYQYRRPVDS YDIPKTEEAS SGFLPGDRNK SRSTTELDDY STNKNGNNKY
LDQIGNMTSS QRRSKKEQVP SGAELERQQI LQEMRKRTPL HNDNSWIRQR SASVNKEPVS
LPGIMRRGES LDNLDSPRSN SWRQPPWLNQ PTGFYASSSV QDFSRPPPQL VSTSNRAYMR
NPSSSVPPPS AGSVKTSTTG VATTQSPTPR SHSPSASQSG SQLRNSWTAN RHVM*
mutated AA sequence MKKIRICHIF TFYSWMSYDV LFQRTELGAL EIWRQLICAH VCICVGWLYL RDRVCSKKDI
ILRTEQNSGR TILIKAVTEK NFETKDFRAS LENGVLLCDL INKLKPGVIK KINRLSTPIA
GLDNINVFLK ACEQIGLKEA QLFHPGDLQD LSNRVTVKQE ETDRRVKNVL ITLYWLGRKA
QSNPYYNGPH LNLKAFENLL GQALTKALED SSFLKRSGRD SGYGDIWCPE RGEFLAPPRH
HKREDSFESL DSLGSRSLTS CSSDITLRGG REGFESDTDS EFTFKMQDYN KDDMSYRRIS
AVEPKTALPF NRFLPNKSRQ PSYVPAPLRK KKPDKHEDNR RSWASPVYTE ADGTFSSNQR
RIWGTNVENW PTVQGTSKSS CYLEEEKAKT RSIPNIVKDD LYVRKLSPVM PNPGNAFDQF
LPKCWTPEDV NWKRIKRETY KPWYKEFQGF SQFLLLQALQ TYSDDILSSE THTKIDPTSG
PRLITRRKNL SYAPGYRRDD LEMAALDPDL ENDDFFVRKT GAFHANPYVL RAFEDFRKFS
EQDDSVERDI ILQCREGELV LPDLEKDDMI VRRIPAQKKE VPLSGAPDRY HPVPFPEPWT
LPPEIQAKFL CVLERTCPSK EKSNSCRILV PSYRQKKDDM LTRKIQSWKL GTTVPPISFT
PGPCSEADLK RWEAIREASR LRHKKRLMVE RLFQKIYGEN GSKSMSDVSA EDVQNLRQLR
YEEMQKIKSQ LKEQDQKWQD DLAKWKDRRK SYTSDLQKKK EEREEIEKQA LEKSKRSSKT
FKEMLQDRES QNQKSTVPSR RRMYSFDDVL EEGKRPPTMT VSEASYQSER VEEKGATYPS
EIPKEDSTTF AKREDRVTTE IQLPSQSPVE EQSPASLSSL RSRSTQMEST RVSASLPRSY
RKTDTVRLTS VVTPRPFGSQ TRGISSLPRS YTMDDAWKYN GDIEDIKRTP NNVVSTPAPS
PDASQLASSL SSQKEVAATE EDVTRLPSPT SPFSSLSQDQ AATSKATLSS TSGLDLMSES
GEGEISPQRE VSRSQDQFSD MRISINQTPG KSLDFGFTIK WDIPGIFVAS VEAGSPAEFS
QLQVDDEIIA INNTKFSYND SKEWEEAMAK AQETGHLVMD VRRYGKAGSP ETKWIDATSG
IYNSEKSSNL SVTTDFSESL QSSNIESKEI NGIHDESNAF ESKASESISL KNLKRRSQFF
EQGSSDSVVP DLPVPTISAP SRWVWDQEEE RKRQERWQKE QDRLLQEKYQ REQEKLREEW
QRAKQEAERE NSKYLDEELM VLSSNSMSLT TREPSLATWE ATWSEGSKSS DREGTRAGEE
ERRQPQEEVV HEDQGKKPQD QLVIERERKW EQQLQEEQEQ KRLQAEAEEQ KRPAEEQKRQ
AEIERETSVR IYQYRRPVDS YDIPKTEEAS SGFLPGDRNK SRSTTELDDY STNKNGNNKY
LDQIGNMTSS QRRSKKEQVP SGAELERQQI LQEMRKRTPL HNDNSWIRQR SASVNKEPVS
LPGIMRRGES LDNLDSPRSN SWRQPPWLNQ PTGFYASSSV QDFSRPPPQL VSTSNRAYMR
NPSSSVPPPS AGSVKTSTTG VATTQSPTPR SHSPSASQSG SQLRNSWTAN RHVM*
speed 1.03 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