Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 3.76201399642493e-15 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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 ENST00000457313
Genbank transcript ID N/A
UniProt peptide Q14679
alteration type single base exchange
alteration region intron
DNA changes g.26932G>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
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 splice site change before start ATG (at aa -87) |
effectgDNA positionscoredetection 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 132
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
99MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
604947DOMAINTTL.might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 412 / 412
chromosome 2
strand 1
last intron/exon boundary 3261
theoretical NMD boundary in CDS 2799
length of CDS 2922
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
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 N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MVFSMAQPMA SSSTEPYLCL AAAGENPSGK SLASAISGKI PSPLSSSYKP MLNNNSFMWP
NSTPVPLLQT TQGLKPVSPP KIQPVSWHHS GGTGDCAPQP VDHKVPKSIG TVPADASAHI
ALSTASSHDT STTSVASSWY NRNNLAMRAE PLSCALDDSS DSQDPTKEIR FTEAVRKLTA
RGFEKMPRQG CQLEQSSFLN PSFQWNVLNR SRRWKPPAVN QQFPQEDAGS VRRVLPGASD
TLGLDNTVFC TKRISIHLLA SHASGLNHNP ACESVIDSSA FGEGKAPGPP FPQTLGIANV
ATRLSSIQLG QSEKERPEEA RELDSSDRDI SSATDLQPDQ AETEDTEEEL VDGLEDCCSR
DENEEEEGDS ECSSLSAVSP SESVAMISRS CMEILTKPLS NHEKVVRPAL IYSLFPNVPP
TIYFGTRDER VEKLPWEQRK LLRWKMSTVT PNIVKQTIGR SHFKISKRND DWLGCWGHHM
KSPSFRSIRE HQKLNHFPGS FQIGRKDRLW RNLSRMQSRF GKKEFSFFPQ SFILPQDAKL
LRKAWESSSR QKWIVKPPAS ARGIGIQVIH KWSQLPKRRP LLVQRYLHKP YLISGSKFDL
RIYVYVTSYD PLRIYLFSDG LVRFASCKYS PSMKSLGNKF MHLTNYSVNK KNAEYQANAD
EMACQGHKWA LKALWNYLSQ KGVNSDAIWE KIKDVVVKTI ISSEPYVTSL LKMYVRRPYS
CHELFGFDIM LDENLKPWVL EVNISPSLHS SSPLDISIKG QMIRDLLNLA GFVLPNAEDI
ISSPSSCSSS TTSLPTSPGD KCRMAPEHVT AQKMKKAYYL TQKIPDQDFY ASVLDVLTPD
DVRILVEMED EFSRRGQFER IFPSHISSRY LRFFEQPRYF NILTTQWEQK YHGNKLKGVD
LLRSWCYKGF HMGVVSDSAP VWSLPTSLLT ISKDDVILNA FSKSETSKLG NPVPQRTVRT
PAKSPAFLPR RYL*
mutated AA sequence N/A
speed 0.64 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