Yum, tasty mutations...

MutationTaster - study a chromosomal position

MTQE documentation
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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000388718
MT speed 1.5 s - this script 5.188307 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FLG2polymorphism_automatic3.63612266079949e-05simple_aaeaffectedL41Fsingle base exchangers3818831show file

Taster files

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documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999963638773392 (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) chr1:152331240G>AN/A show variant in all transcripts   IGV
HGNC symbol FLG2
Ensembl transcript ID ENST00000388718
Genbank transcript ID NM_001014342
UniProt peptide Q5D862
alteration type single base exchange
alteration region CDS
DNA changes c.121C>T
cDNA.194C>T
g.1243C>T
AA changes L41F Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS
41
frameshift no
known variant Reference ID: rs3818831
databasehomozygous (A/A)heterozygousallele carriers
1000G38810861474
ExAC46152087325488
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)2.6680.977
1.3960.995
(flanking)0.5580.998
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained12360.90mu: CTGGAGAAAGAGTTT GGAG|aaag
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      41KGELKELLEKELHPVLKNPDDPDT
mutated  not conserved    41KGELKELLEKEFHPVLKNPDDPD
Ptroglodytes  not conserved  ENSPTRG00000001313  41KGELKELLEKEFHPILKNPDDPD
Mmulatta  not conserved  ENSMMUG00000012805  41KDELKELLEKEFHPVLKNPDDPD
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000049133  41KDELKELLEKEFRPILKNPDDPD
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
181REGIONS-100-like (By similarity).lost
843DOMAINEF-hand 1.lost
4984DOMAINEF-hand 2.might get lost (downstream of altered splice site)
6273CA_BINDPotential.might get lost (downstream of altered splice site)
113113MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
115115MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
1321289COMPBIASSer-rich.might get lost (downstream of altered splice site)
169169MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
245289REPEATFilaggrin 1.might get lost (downstream of altered splice site)
421466REPEATFilaggrin 2.might get lost (downstream of altered splice site)
10191051REPEATFilaggrin 3.might get lost (downstream of altered splice site)
10481048MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
10971141REPEATFilaggrin 4.might get lost (downstream of altered splice site)
11121112MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
11251125MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
14551510REPEATFilaggrin 5.might get lost (downstream of altered splice site)
15041504MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
15051505MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
16071662REPEATFilaggrin 6.might get lost (downstream of altered splice site)
17321732MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
17571812REPEATFilaggrin 7.might get lost (downstream of altered splice site)
19281964REPEATFilaggrin 8.might get lost (downstream of altered splice site)
19842039REPEATFilaggrin 9.might get lost (downstream of altered splice site)
20342034MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
20402040MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
21342189REPEATFilaggrin 10.might get lost (downstream of altered splice site)
22722272MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
22812281MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 7176 / 7176
position (AA) of stopcodon in wt / mu AA sequence 2392 / 2392
position of stopcodon in wt / mu cDNA 7249 / 7249
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 74 / 74
chromosome 1
strand -1
last intron/exon boundary 212
theoretical NMD boundary in CDS 88
length of CDS 7176
coding sequence (CDS) position 121
cDNA position
(for ins/del: last normal base / first normal base)
194
gDNA position
(for ins/del: last normal base / first normal base)
1243
chromosomal position
(for ins/del: last normal base / first normal base)
152331240
original gDNA sequence snippet AGGAACTTCTGGAGAAAGAGCTTCATCCAGTTCTGAAGGTG
altered gDNA sequence snippet AGGAACTTCTGGAGAAAGAGTTTCATCCAGTTCTGAAGGTG
original cDNA sequence snippet AGGAACTTCTGGAGAAAGAGCTTCATCCAGTTCTGAAGAAC
altered cDNA sequence snippet AGGAACTTCTGGAGAAAGAGTTTCATCCAGTTCTGAAGAAC
wildtype AA sequence MTDLLRSVVT VIDVFYKYTK QDGECGTLSK GELKELLEKE LHPVLKNPDD PDTVDVIMHM
LDRDHDRRLD FTEFLLMIFK LTMACNKVLS KEYCKASGSK KHRRGHRHQE EESETEEDEE
DTPGHKSGYR HSSWSEGEEH GYSSGHSRGT VKCRHGSNSR RLGRQGNLSS SGNQEGSQKR
YHRSSCGHSW SGGKDRHGSS SVELRERINK SHISPSRESG EEYESGSGSN SWERKGHGGL
SCGLETSGHE SNSTQSRIRE QKLGSSCSGS GDSGRRSHAC GYSNSSGCGR PQNASSSCQS
HRFGGQGNQF SYIQSGCQSG IKGGQGHGCV SGGQPSGCGQ PESNPCSQSY SQRGYGAREN
GQPQNCGGQW RTGSSQSSCC GQYGSGGSQS CSNGQHEYGS CGRFSNSSSS NEFSKCDQYG
SGSSQSTSFE QHGTGLSQSS GFEQHVCGSG QTCGQHESTS SQSLGYDQHG SSSGKTSGFG
QHGSGSGQSS GFGQCGSGSG QSSGFGQHGS VSGQSSGFGQ HGSVSGQSSG FGQHESRSRQ
SSYGQHGSGS SQSSGYGQYG SRETSGFGQH GLGSGQSTGF GQYGSGSGQS SGFGQHGSGS
GQSSGFGQHE SRSGQSSYGQ HSSGSSQSSG YGQHGSRQTS GFGQHGSGSS QSTGFGQYGS
GSGQSSGFGQ HVSGSGQSSG FGQHESRSGH SSYGQHGFGS SQSSGYGQHG SSSGQTSGFG
QHELSSGQSS SFGQHGSGSG QSSGFGQHGS GSGQSSGFGQ HESRSGQSSY GQHSSGSSQS
SGYGQHGSRQ TSGFGQHGSG SSQSTGFGQY GSGSGQSAGF GQHGSGSGQS SGFGQHESRS
HQSSYGQHGS GSSQSSGYGQ HGSSSGQTSG FGQHRSSSGQ YSGFGQHGSG SGQSSGFGQH
GTGSGQYSGF GQHESRSHQS SYGQHGSGSS QSSGYGQHGS SSGQTFGFGQ HRSGSGQSSG
FGQHGSGSGQ SSGFGQHESG SGKSSGFGQH ESRSSQSNYG QHGSGSSQSS GYGQHGSSSG
QTTGFGQHRS SSGQYSGFGQ HGSGSDQSSG FGQHGTGSGQ SSGFGQYESR SRQSSYGQHG
SGSSQSSGYG QHGSNSGQTS GFGQHRPGSG QSSGFGQYGS GSGQSSGFGQ HGSGTGKSSG
FAQHEYRSGQ SSYGQHGTGS SQSSGCGQHE SGSGPTTSFG QHVSGSDNFS SSGQHISDSG
QSTGFGQYGS GSGQSTGLGQ GESQQVESGS TVHGRQETTH GQTINTTRHS QSGQGQSTQT
GSRVTRRRRS SQSENSDSEV HSKVSHRHSE HIHTQAGSHY PKSGSTVRRR QGTTHGQRGD
TTRHGHSGHG QSTQTGSRTS GRQRFSHSDA TDSEVHSGVS HRPHSQEQTH SQAGSQHGES
ESTVHERHET TYGQTGEATG HGHSGHGQST QRGSRTTGRR GSGHSESSDS EVHSGGSHRP
QSQEQTHGQA GSQHGESGST VHGRHGTTHG QTGDTTRHAH YHHGKSTQRG SSTTGRRGSG
HSESSDSEVH SGGSHTHSGH THGQSGSQHG ESESIIHDRH RITHGQTGDT TRHSYSGHEQ
TTQTGSRTTG RQRTSHSEST DSEVHSGGSH RPHSREHTYG QAGSQHEEPE FTVHERHGTT
HGQIGDTTGH SHSGHGQSTQ RGSRTTGRQR SSHSESSDSE VHSGVSHTHT GHTHGQAGSQ
HGQSESIVPE RHGTTHGQTG DTTRHAHYHH GLTTQTGSRT TGRRGSGHSE YSDSEGYSGV
SHTHSGHTHG QARSQHGESE SIVHERHGTI HGQTGDTTRH AHSGHGQSTQ TGSRTTGRRS
SGHSEYSDSE GHSGFSQRPH SRGHTHGQAG SQHGESESIV DERHGTTHGQ TGDTSGHSQS
GHGQSTQSGS STTGRRRSGH SESSDSEVHS GGSHTHSGHT HSQARSQHGE SESTVHKRHQ
TTHGQTGDTT EHGHPSHGQT IQTGSRTTGR RGSGHSEYSD SEGPSGVSHT HSGHTHGQAG
SHYPESGSSV HERHGTTHGQ TADTTRHGHS GHGQSTQRGS RTTGRRASGH SEYSDSEGHS
GVSHTHSGHA HGQAGSQHGE SGSSVHERHG TTHGQTGDTT RHAHSGHGQS TQRGSRTAGR
RGSGHSESSD SEVHSGVSHT HSGHTYGQAR SQHGESGSAI HGRQGTIHGQ TGDTTRHGQS
GHGQSTQTGS RTTGRQRSSH SESSDSEVHS EASPTHSGHT HSQAGSRHGQ SGSSGHGRQG
TTHGQTGDTT RHAHYGYGQS TQRGSRTTGR RGSGHSESSD SEVHSWGSHT HSGHIQGQAG
SQQRQPGSTV HGRLETTHGQ TGDTTRHGHS GYGQSTQTGS RSSRASHFQS HSSERQRHGS
SQVWKHGSYG PAEYDYGHTG YGPSGGSRKS ISNSHLSWST DSTANKQLSR H*
mutated AA sequence MTDLLRSVVT VIDVFYKYTK QDGECGTLSK GELKELLEKE FHPVLKNPDD PDTVDVIMHM
LDRDHDRRLD FTEFLLMIFK LTMACNKVLS KEYCKASGSK KHRRGHRHQE EESETEEDEE
DTPGHKSGYR HSSWSEGEEH GYSSGHSRGT VKCRHGSNSR RLGRQGNLSS SGNQEGSQKR
YHRSSCGHSW SGGKDRHGSS SVELRERINK SHISPSRESG EEYESGSGSN SWERKGHGGL
SCGLETSGHE SNSTQSRIRE QKLGSSCSGS GDSGRRSHAC GYSNSSGCGR PQNASSSCQS
HRFGGQGNQF SYIQSGCQSG IKGGQGHGCV SGGQPSGCGQ PESNPCSQSY SQRGYGAREN
GQPQNCGGQW RTGSSQSSCC GQYGSGGSQS CSNGQHEYGS CGRFSNSSSS NEFSKCDQYG
SGSSQSTSFE QHGTGLSQSS GFEQHVCGSG QTCGQHESTS SQSLGYDQHG SSSGKTSGFG
QHGSGSGQSS GFGQCGSGSG QSSGFGQHGS VSGQSSGFGQ HGSVSGQSSG FGQHESRSRQ
SSYGQHGSGS SQSSGYGQYG SRETSGFGQH GLGSGQSTGF GQYGSGSGQS SGFGQHGSGS
GQSSGFGQHE SRSGQSSYGQ HSSGSSQSSG YGQHGSRQTS GFGQHGSGSS QSTGFGQYGS
GSGQSSGFGQ HVSGSGQSSG FGQHESRSGH SSYGQHGFGS SQSSGYGQHG SSSGQTSGFG
QHELSSGQSS SFGQHGSGSG QSSGFGQHGS GSGQSSGFGQ HESRSGQSSY GQHSSGSSQS
SGYGQHGSRQ TSGFGQHGSG SSQSTGFGQY GSGSGQSAGF GQHGSGSGQS SGFGQHESRS
HQSSYGQHGS GSSQSSGYGQ HGSSSGQTSG FGQHRSSSGQ YSGFGQHGSG SGQSSGFGQH
GTGSGQYSGF GQHESRSHQS SYGQHGSGSS QSSGYGQHGS SSGQTFGFGQ HRSGSGQSSG
FGQHGSGSGQ SSGFGQHESG SGKSSGFGQH ESRSSQSNYG QHGSGSSQSS GYGQHGSSSG
QTTGFGQHRS SSGQYSGFGQ HGSGSDQSSG FGQHGTGSGQ SSGFGQYESR SRQSSYGQHG
SGSSQSSGYG QHGSNSGQTS GFGQHRPGSG QSSGFGQYGS GSGQSSGFGQ HGSGTGKSSG
FAQHEYRSGQ SSYGQHGTGS SQSSGCGQHE SGSGPTTSFG QHVSGSDNFS SSGQHISDSG
QSTGFGQYGS GSGQSTGLGQ GESQQVESGS TVHGRQETTH GQTINTTRHS QSGQGQSTQT
GSRVTRRRRS SQSENSDSEV HSKVSHRHSE HIHTQAGSHY PKSGSTVRRR QGTTHGQRGD
TTRHGHSGHG QSTQTGSRTS GRQRFSHSDA TDSEVHSGVS HRPHSQEQTH SQAGSQHGES
ESTVHERHET TYGQTGEATG HGHSGHGQST QRGSRTTGRR GSGHSESSDS EVHSGGSHRP
QSQEQTHGQA GSQHGESGST VHGRHGTTHG QTGDTTRHAH YHHGKSTQRG SSTTGRRGSG
HSESSDSEVH SGGSHTHSGH THGQSGSQHG ESESIIHDRH RITHGQTGDT TRHSYSGHEQ
TTQTGSRTTG RQRTSHSEST DSEVHSGGSH RPHSREHTYG QAGSQHEEPE FTVHERHGTT
HGQIGDTTGH SHSGHGQSTQ RGSRTTGRQR SSHSESSDSE VHSGVSHTHT GHTHGQAGSQ
HGQSESIVPE RHGTTHGQTG DTTRHAHYHH GLTTQTGSRT TGRRGSGHSE YSDSEGYSGV
SHTHSGHTHG QARSQHGESE SIVHERHGTI HGQTGDTTRH AHSGHGQSTQ TGSRTTGRRS
SGHSEYSDSE GHSGFSQRPH SRGHTHGQAG SQHGESESIV DERHGTTHGQ TGDTSGHSQS
GHGQSTQSGS STTGRRRSGH SESSDSEVHS GGSHTHSGHT HSQARSQHGE SESTVHKRHQ
TTHGQTGDTT EHGHPSHGQT IQTGSRTTGR RGSGHSEYSD SEGPSGVSHT HSGHTHGQAG
SHYPESGSSV HERHGTTHGQ TADTTRHGHS GHGQSTQRGS RTTGRRASGH SEYSDSEGHS
GVSHTHSGHA HGQAGSQHGE SGSSVHERHG TTHGQTGDTT RHAHSGHGQS TQRGSRTAGR
RGSGHSESSD SEVHSGVSHT HSGHTYGQAR SQHGESGSAI HGRQGTIHGQ TGDTTRHGQS
GHGQSTQTGS RTTGRQRSSH SESSDSEVHS EASPTHSGHT HSQAGSRHGQ SGSSGHGRQG
TTHGQTGDTT RHAHYGYGQS TQRGSRTTGR RGSGHSESSD SEVHSWGSHT HSGHIQGQAG
SQQRQPGSTV HGRLETTHGQ TGDTTRHGHS GYGQSTQTGS RSSRASHFQS HSSERQRHGS
SQVWKHGSYG PAEYDYGHTG YGPSGGSRKS ISNSHLSWST DSTANKQLSR H*
speed 1.50 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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