Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.966066425251959 (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) chr2:219602499G>CN/A show variant in all transcripts   IGV
HGNC symbol TTLL4
Ensembl transcript ID ENST00000258398
Genbank transcript ID N/A
UniProt peptide Q14679
alteration type single base exchange
alteration region CDS
DNA changes c.100G>C
cDNA.203G>C
g.26932G>C
AA changes E34Q Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 34
frameshift no
known variant Reference ID: rs3731877
databasehomozygous (C/C)heterozygousallele carriers
1000G48810441532
ExAC12455785720312
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2040.804
2.1230.991
(flanking)1.6840.998
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased26933wt: 0.7948 / mu: 0.8500 (marginal change - not scored)wt: ACCTGAGAAACCCTC
mu: ACCTCAGAAACCCTC		 CTGA|gaaa
Donor increased26924wt: 0.65 / mu: 0.86wt: TGCCACGCCACCTGA
mu: TGCCACGCCACCTCA		 CCAC|gcca
distance from splice site 203
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      34GPSGTVPATPPEKPSEGRVWPQAH
mutated  all conserved    34GPSGTVPATPPQKPSEGRVWPQA
Ptroglodytes  all identical  ENSPTRG00000012927  34GPSGTVPATPPEKPSEGRVWPQA
Mmulatta  all identical  ENSMMUG00000006755  34GPSGTVSATPPEKPSEGKVWPQA
Fcatus  no alignment  ENSFCAG00000007062  n/a
Mmusculus  all identical  ENSMUSG00000033257  34HPSGTVSASPSEKPSEVKVWSQA
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000007930  n/a
Drerio  no alignment  ENSDARG00000078935  n/a
Dmelanogaster  no alignment  FBgn0026147  n/a
Celegans  no alignment  ZK1128.6  n/a
Xtropicalis  no alignment  ENSXETG00000013887  n/a
protein features
start (aa)end (aa)featuredetails 
604947DOMAINTTL.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3600 / 3600
position (AA) of stopcodon in wt / mu AA sequence 1200 / 1200
position of stopcodon in wt / mu cDNA 3703 / 3703
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 104 / 104
chromosome 2
strand 1
last intron/exon boundary 3448
theoretical NMD boundary in CDS 3294
length of CDS 3600
coding sequence (CDS) position 100
cDNA position
(for ins/del: last normal base / first normal base)		 203
gDNA position
(for ins/del: last normal base / first normal base)		 26932
chromosomal position
(for ins/del: last normal base / first normal base)		 219602499
original gDNA sequence snippet CAGTACCTGCCACGCCACCTGAGAAACCCTCGGAGGGCAGA
altered gDNA sequence snippet CAGTACCTGCCACGCCACCTCAGAAACCCTCGGAGGGCAGA
original cDNA sequence snippet CAGTACCTGCCACGCCACCTGAGAAACCCTCGGAGGGCAGA
altered cDNA sequence snippet CAGTACCTGCCACGCCACCTCAGAAACCCTCGGAGGGCAGA
wildtype AA sequence MASAGTQHYS IGLRQKNSFK QSGPSGTVPA TPPEKPSEGR VWPQAHQQVK PIWKLEKKQV
ETLSAGLGPG LLGVPPQPAY FFCPSTLCSS GTTAVIAGHS SSCYLHSLPD LFNSTLLYRR
SSYRQKPYQQ LESFCLRSSP SEKSPFSLPQ KSLPVSLTAN KATSSMVFSM AQPMASSSTE
PYLCLAAAGE NPSGKSLASA ISGKIPSPLS SSYKPMLNNN SFMWPNSTPV PLLQTTQGLK
PVSPPKIQPV SWHHSGGTGD CAPQPVDHKV PKSIGTVPAD ASAHIALSTA SSHDTSTTSV
ASSWYNRNNL AMRAEPLSCA LDDSSDSQDP TKEIRFTEAV RKLTARGFEK MPRQGCQLEQ
SSFLNPSFQW NVLNRSRRWK PPAVNQQFPQ EDAGSVRRVL PGASDTLGLD NTVFCTKRIS
IHLLASHASG LNHNPACESV IDSSAFGEGK APGPPFPQTL GIANVATRLS SIQLGQSEKE
RPEEARELDS SDRDISSATD LQPDQAETED TEEELVDGLE DCCSRDENEE EEGDSECSSL
SAVSPSESVA MISRSCMEIL TKPLSNHEKV VRPALIYSLF PNVPPTIYFG TRDERVEKLP
WEQRKLLRWK MSTVTPNIVK QTIGRSHFKI SKRNDDWLGC WGHHMKSPSF RSIREHQKLN
HFPGSFQIGR KDRLWRNLSR MQSRFGKKEF SFFPQSFILP QDAKLLRKAW ESSSRQKWIV
KPPASARGIG IQVIHKWSQL PKRRPLLVQR YLHKPYLISG SKFDLRIYVY VTSYDPLRIY
LFSDGLVRFA SCKYSPSMKS LGNKFMHLTN YSVNKKNAEY QANADEMACQ GHKWALKALW
NYLSQKGVNS DAIWEKIKDV VVKTIISSEP YVTSLLKMYV RRPYSCHELF GFDIMLDENL
KPWVLEVNIS PSLHSSSPLD ISIKGQMIRD LLNLAGFVLP NAEDIISSPS SCSSSTTSLP
TSPGDKCRMA PEHVTAQKMK KAYYLTQKIP DQDFYASVLD VLTPDDVRIL VEMEDEFSRR
GQFERIFPSH ISSRYLRFFE QPRYFNILTT QWEQKYHGNK LKGVDLLRSW CYKGFHMGVV
SDSAPVWSLP TSLLTISKDD VILNAFSKSE TSKLGKQSSC EVSLLLSEDG TTPKSKKTQA
GLSPYPQKPS SSKDSEDTSK EPSLSTQTLP VIKCSGQTSR LSASSTFQSI SDSLLAVSP*
mutated AA sequence MASAGTQHYS IGLRQKNSFK QSGPSGTVPA TPPQKPSEGR VWPQAHQQVK PIWKLEKKQV
ETLSAGLGPG LLGVPPQPAY FFCPSTLCSS GTTAVIAGHS SSCYLHSLPD LFNSTLLYRR
SSYRQKPYQQ LESFCLRSSP SEKSPFSLPQ KSLPVSLTAN KATSSMVFSM AQPMASSSTE
PYLCLAAAGE NPSGKSLASA ISGKIPSPLS SSYKPMLNNN SFMWPNSTPV PLLQTTQGLK
PVSPPKIQPV SWHHSGGTGD CAPQPVDHKV PKSIGTVPAD ASAHIALSTA SSHDTSTTSV
ASSWYNRNNL AMRAEPLSCA LDDSSDSQDP TKEIRFTEAV RKLTARGFEK MPRQGCQLEQ
SSFLNPSFQW NVLNRSRRWK PPAVNQQFPQ EDAGSVRRVL PGASDTLGLD NTVFCTKRIS
IHLLASHASG LNHNPACESV IDSSAFGEGK APGPPFPQTL GIANVATRLS SIQLGQSEKE
RPEEARELDS SDRDISSATD LQPDQAETED TEEELVDGLE DCCSRDENEE EEGDSECSSL
SAVSPSESVA MISRSCMEIL TKPLSNHEKV VRPALIYSLF PNVPPTIYFG TRDERVEKLP
WEQRKLLRWK MSTVTPNIVK QTIGRSHFKI SKRNDDWLGC WGHHMKSPSF RSIREHQKLN
HFPGSFQIGR KDRLWRNLSR MQSRFGKKEF SFFPQSFILP QDAKLLRKAW ESSSRQKWIV
KPPASARGIG IQVIHKWSQL PKRRPLLVQR YLHKPYLISG SKFDLRIYVY VTSYDPLRIY
LFSDGLVRFA SCKYSPSMKS LGNKFMHLTN YSVNKKNAEY QANADEMACQ GHKWALKALW
NYLSQKGVNS DAIWEKIKDV VVKTIISSEP YVTSLLKMYV RRPYSCHELF GFDIMLDENL
KPWVLEVNIS PSLHSSSPLD ISIKGQMIRD LLNLAGFVLP NAEDIISSPS SCSSSTTSLP
TSPGDKCRMA PEHVTAQKMK KAYYLTQKIP DQDFYASVLD VLTPDDVRIL VEMEDEFSRR
GQFERIFPSH ISSRYLRFFE QPRYFNILTT QWEQKYHGNK LKGVDLLRSW CYKGFHMGVV
SDSAPVWSLP TSLLTISKDD VILNAFSKSE TSKLGKQSSC EVSLLLSEDG TTPKSKKTQA
GLSPYPQKPS SSKDSEDTSK EPSLSTQTLP VIKCSGQTSR LSASSTFQSI SDSLLAVSP*
speed 1.23 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