Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 6 transcript(s)...
Querying Taster for transcript #1: ENST00000341547
Querying Taster for transcript #2: ENST00000321797
Querying Taster for transcript #3: ENST00000526202
Querying Taster for transcript #4: ENST00000465261
Querying Taster for transcript #5: ENST00000357063
Querying Taster for transcript #6: ENST00000377534
MT speed 0 s - this script 5.415233 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
LMO7polymorphism_automatic9.43800593233846e-12simple_aaeaffectedV943Isingle base exchangers4884021show file
LMO7polymorphism_automatic9.43800593233846e-12simple_aaeaffectedV943Isingle base exchangers4884021show file
LMO7polymorphism_automatic1.43559608645205e-11simple_aaeaffectedV658Isingle base exchangers4884021show file
LMO7polymorphism_automatic1.43559608645205e-11simple_aaeaffectedV609Isingle base exchangers4884021show file
LMO7polymorphism_automatic1.43559608645205e-11simple_aaeaffectedV658Isingle base exchangers4884021show file
LMO7polymorphism_automatic1.43559608645205e-11simple_aaeaffectedV508Isingle base exchangers4884021show file

Taster files

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 ENST00000357063
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 increased203162wt: 0.61 / mu: 0.92wt: GAGATGTTGAAGACA
mu: GAGATATTGAAGACA		 GATG|ttga
Donor marginally increased203167wt: 0.5194 / mu: 0.5671 (marginal change - not scored)wt: GTTGAAGACATTAAG
mu: ATTGAAGACATTAAG		 TGAA|gaca
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 5013 / 5013
position (AA) of stopcodon in wt / mu AA sequence 1671 / 1671
position of stopcodon in wt / mu cDNA 6273 / 6273
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 6181
theoretical NMD boundary in CDS 4870
length of CDS 5013
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 SQLRNSVLPV SVTSEALPQE
LKSGSETTNC TATTAISDSN LDGQPPCDVS LHTKALLQIE EEVVAAHVDL *
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 SQLRNSVLPV SVTSEALPQE
LKSGSETTNC TATTAISDSN LDGQPPCDVS LHTKALLQIE EEVVAAHVDL *
speed 0.47 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
back to results table
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 increased203162wt: 0.61 / mu: 0.92wt: GAGATGTTGAAGACA
mu: GAGATATTGAAGACA		 GATG|ttga
Donor marginally increased203167wt: 0.5194 / mu: 0.5671 (marginal change - not scored)wt: GTTGAAGACATTAAG
mu: ATTGAAGACATTAAG		 TGAA|gaca
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 1.07 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
back to results table
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 increased203162wt: 0.61 / mu: 0.92wt: GAGATGTTGAAGACA
mu: GAGATATTGAAGACA		 GATG|ttga
Donor marginally increased203167wt: 0.5194 / mu: 0.5671 (marginal change - not scored)wt: GTTGAAGACATTAAG
mu: ATTGAAGACATTAAG		 TGAA|gaca
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 0.67 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
back to results table
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 ENST00000341547
Genbank transcript ID NM_005358
UniProt peptide Q8WWI1
alteration type single base exchange
alteration region CDS
DNA changes c.1825G>A
cDNA.3085G>A
g.203162G>A
AA changes V609I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 609
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 increased203162wt: 0.61 / mu: 0.92wt: GAGATGTTGAAGACA
mu: GAGATATTGAAGACA		 GATG|ttga
Donor marginally increased203167wt: 0.5194 / mu: 0.5671 (marginal change - not scored)wt: GTTGAAGACATTAAG
mu: ATTGAAGACATTAAG		 TGAA|gaca
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      609TMDDAWKYNGDVEDIKRTPNNVVS
mutated  all conserved    609DAWKYNGDIEDIKRTPNNVV
Ptroglodytes  all identical  ENSPTRG00000005935  609DAWKYNGDVEDIKRTPNNVV
Mmulatta  all conserved  ENSMMUG00000001312  869TVKNVLSSFISISKIANASTNCK
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000033060  938DGWKYNGDVEVVKREQLDLG
Ggallus  all identical  ENSGALG00000016920  852TMDDAQKYNGEVEKAKGT-QTLT
Trubripes  not conserved  ENSTRUG00000010628  898TVDDPQSRVNGDGSKKSAAPSRYQ
Drerio  not conserved  ENSDARG00000004930  1102TMDDSVKRTNGESNSLKKTAVQ
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 
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 4050 / 4050
position (AA) of stopcodon in wt / mu AA sequence 1350 / 1350
position of stopcodon in wt / mu cDNA 5310 / 5310
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 5288
theoretical NMD boundary in CDS 3977
length of CDS 4050
coding sequence (CDS) position 1825
cDNA position
(for ins/del: last normal base / first normal base)		 3085
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 ADGTFSRLFQ
KIYGENGSKS MSDVSAEDVQ NLRQLRYEEM QKIKSQLKEQ DQKWQDDLAK WKDRRKSYTS
DLQKKKEERE EIEKQALEKS KRSSKTFKEM LQDRESQNQK STVPSRRRMY SFDDVLEEGK
RPPTMTVSEA SYQSERVEEK GATYPSEIPK EDSTTFAKRE DRVTTEIQLP SQSPVEEQSP
ASLSSLRSRS TQMESTRVSA SLPRSYRKTD TVRLTSVVTP RPFGSQTRGI SSLPRSYTMD
DAWKYNGDVE DIKRTPNNVV STPAPSPDAS QLASSLSSQK EVAATEEDVT RLPSPTSPFS
SLSQDQAATS KATLSSTSGL DLMSESGEGE ISPQREVSRS QDQFSDMRIS INQTPGKSLD
FGFTIKWDIP GIFVASVEAG SPAEFSQLQV DDEIIAINNT KFSYNDSKEW EEAMAKAQET
GHLVMDVRRY GKAGSPETKW IDATSGIYNS EKSSNLSVTT DFSESLQSSN IESKEINGIH
DESNAFESKA SESISLKNLK RRSQFFEQGS SDSVVPDLPV PTISAPSRWV WDQEEERKRQ
ERWQKEQDRL LQEKYQREQE KLREEWQRAK QEAERENSKY LDEELMVLSS NSMSLTTREP
SLATWEATWS EGSKSSDREG TRAGEEERRQ PQEEVVHEDQ GKKPQDQLVI ERERKWEQQL
QEEQEQKRLQ AEAEEQKRPA EEQKRQAEIE RETSVRIYQY RRPVDSYDIP KTEEASSGFL
PGDRNKSRST TELDDYSTNK NGNNKYLDQI GNMTSSQRRS KKEQVPSGAE LERQQILQEM
RKRTPLHNDN SWIRQRSASV NKEPVSLPGI MRRGESLDNL DSPRSNSWRQ PPWLNQPTGF
YASSSVQDFS RPPPQLVSTS NRAYMRNPSS SVPPPSAGSV KTSTTGVATT QSPTPRSHSP
SASQSGSQLR NRSVSGKRIC SYCNNILGKG AAMIIESLGL CYHLHCFKCV ACECDLGGSS
SGAEVRIRNH QLYCNDCYLR FKSGRPTAM*
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 ADGTFSRLFQ
KIYGENGSKS MSDVSAEDVQ NLRQLRYEEM QKIKSQLKEQ DQKWQDDLAK WKDRRKSYTS
DLQKKKEERE EIEKQALEKS KRSSKTFKEM LQDRESQNQK STVPSRRRMY SFDDVLEEGK
RPPTMTVSEA SYQSERVEEK GATYPSEIPK EDSTTFAKRE DRVTTEIQLP SQSPVEEQSP
ASLSSLRSRS TQMESTRVSA SLPRSYRKTD TVRLTSVVTP RPFGSQTRGI SSLPRSYTMD
DAWKYNGDIE DIKRTPNNVV STPAPSPDAS QLASSLSSQK EVAATEEDVT RLPSPTSPFS
SLSQDQAATS KATLSSTSGL DLMSESGEGE ISPQREVSRS QDQFSDMRIS INQTPGKSLD
FGFTIKWDIP GIFVASVEAG SPAEFSQLQV DDEIIAINNT KFSYNDSKEW EEAMAKAQET
GHLVMDVRRY GKAGSPETKW IDATSGIYNS EKSSNLSVTT DFSESLQSSN IESKEINGIH
DESNAFESKA SESISLKNLK RRSQFFEQGS SDSVVPDLPV PTISAPSRWV WDQEEERKRQ
ERWQKEQDRL LQEKYQREQE KLREEWQRAK QEAERENSKY LDEELMVLSS NSMSLTTREP
SLATWEATWS EGSKSSDREG TRAGEEERRQ PQEEVVHEDQ GKKPQDQLVI ERERKWEQQL
QEEQEQKRLQ AEAEEQKRPA EEQKRQAEIE RETSVRIYQY RRPVDSYDIP KTEEASSGFL
PGDRNKSRST TELDDYSTNK NGNNKYLDQI GNMTSSQRRS KKEQVPSGAE LERQQILQEM
RKRTPLHNDN SWIRQRSASV NKEPVSLPGI MRRGESLDNL DSPRSNSWRQ PPWLNQPTGF
YASSSVQDFS RPPPQLVSTS NRAYMRNPSS SVPPPSAGSV KTSTTGVATT QSPTPRSHSP
SASQSGSQLR NRSVSGKRIC SYCNNILGKG AAMIIESLGL CYHLHCFKCV ACECDLGGSS
SGAEVRIRNH QLYCNDCYLR FKSGRPTAM*
speed 1.07 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
back to results table
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 ENST00000465261
Genbank transcript ID NM_015842
UniProt peptide Q8WWI1
alteration type single base exchange
alteration region CDS
DNA changes c.1972G>A
cDNA.2732G>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 increased203162wt: 0.61 / mu: 0.92wt: GAGATGTTGAAGACA
mu: GAGATATTGAAGACA		 GATG|ttga
Donor marginally increased203167wt: 0.5194 / mu: 0.5671 (marginal change - not scored)wt: GTTGAAGACATTAAG
mu: ATTGAAGACATTAAG		 TGAA|gaca
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 4158 / 4158
position (AA) of stopcodon in wt / mu AA sequence 1386 / 1386
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 761 / 761
chromosome 13
strand 1
last intron/exon boundary 4826
theoretical NMD boundary in CDS 4015
length of CDS 4158
coding sequence (CDS) position 1972
cDNA position
(for ins/del: last normal base / first normal base)		 2732
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
SVLPVSVTSE ALPQELKSGS ETTNCTATTA ISDSNLDGQP PCDVSLHTKA LLQIEEEVVA
AHVDL*
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
SVLPVSVTSE ALPQELKSGS ETTNCTATTA ISDSNLDGQP PCDVSLHTKA LLQIEEEVVA
AHVDL*
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
back to results table
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 increased203162wt: 0.61 / mu: 0.92wt: GAGATGTTGAAGACA
mu: GAGATATTGAAGACA		 GATG|ttga
Donor marginally increased203167wt: 0.5194 / mu: 0.5671 (marginal change - not scored)wt: GTTGAAGACATTAAG
mu: ATTGAAGACATTAAG		 TGAA|gaca
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
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Problems