Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999963880131 (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) chr3:9871030T>GN/A show variant in all transcripts   IGV
HGNC symbol TTLL3
Ensembl transcript ID ENST00000430793
Genbank transcript ID N/A
UniProt peptide Q9Y4R7
alteration type single base exchange
alteration region CDS
DNA changes c.869T>G
cDNA.1228T>G
g.21261T>G
AA changes M290R Score: 91 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 290
frameshift no
known variant Reference ID: rs2290305
databasehomozygous (G/G)heterozygousallele carriers
1000G67610611737
ExAC23140-135139627
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4510.44
1.6980.425
(flanking)0.3550.16
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased21254wt: 0.32 / mu: 0.41wt: ACACCCTGCGCGTGGTCATTGACCGGATGCTGGACCGCAAC
mu: ACACCCTGCGCGTGGTCATTGACCGGAGGCTGGACCGCAAC		 attg|ACCG
Donor gained212550.97mu: CATTGACCGGAGGCT TTGA|ccgg
distance from splice site 50
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      290QADTLRVVIDRMLDRNCDTGAFEL
mutated  not conserved    290QADTLRVVIDRRLDRNCDTGAF
Ptroglodytes  not conserved  ENSPTRG00000034246  502QADTLRVVIDRRLDRNCDTGAF
Mmulatta  not conserved  ENSMMUG00000004539  502QADTLRVVIDRRLDHNCDTGAF
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000030276  696QADTLRVVIDRRLDRSCDTGAFE
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000053728  576QEDTLRVVLDRRSERNTDTGGFQ
Dmelanogaster  not conserved  FBgn0031854  637LEDVVKVVIDRRTDPKAELG
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000023542  551QEDTLRIVLDRKLDRNCDIG
protein features
start (aa)end (aa)featuredetails 
151510DOMAINTTL.lost
469469MUTAGENE->G: Abolishes monoglycylase activity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1305 / 1305
position (AA) of stopcodon in wt / mu AA sequence 435 / 435
position of stopcodon in wt / mu cDNA 1664 / 1664
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 360 / 360
chromosome 3
strand 1
last intron/exon boundary 1420
theoretical NMD boundary in CDS 1010
length of CDS 1305
coding sequence (CDS) position 869
cDNA position
(for ins/del: last normal base / first normal base)		 1228
gDNA position
(for ins/del: last normal base / first normal base)		 21261
chromosomal position
(for ins/del: last normal base / first normal base)		 9871030
original gDNA sequence snippet GCGCGTGGTCATTGACCGGATGCTGGACCGCAACTGTGACA
altered gDNA sequence snippet GCGCGTGGTCATTGACCGGAGGCTGGACCGCAACTGTGACA
original cDNA sequence snippet GCGCGTGGTCATTGACCGGATGCTGGACCGCAACTGTGACA
altered cDNA sequence snippet GCGCGTGGTCATTGACCGGAGGCTGGACCGCAACTGTGACA
wildtype AA sequence MDIDKDLEAP LYLTPEGWSL FLQRYYQVVH EGAELRHLDT QVQRCEDILQ QLQAVVPQID
MEGDRNIWIV KPGAKSRGRG IMCMDHLEEM LKLVNGNPVV MKDGKWVVQK YIERPLLIFG
TKFDLRQWFL VTDWNPLTVW FYRDSYIRFS TQPFSLKNLD NSVHLCNNSI QKHLENSCHR
HPLLPPDNMW SSQRFQAHLQ EMGAPNAWST IIVPGMKDAV IHALQTSQDT VQCRKASFEL
YGADFVFGED FQPWLIEINA SPTMAPSTAV TARLCAGVQA DTLRVVIDRM LDRNCDTGAF
ELIYKQPAVE VPQYVGIRLL VEGFTIKKPM AMCHRRMGVR PAVPLLTQRG SGEARHHFPS
LHTKAQLPSP HVLRHQGQVL RRQHSKLVGT KALSTTGKAL RTLPTAKVFI SLPPNLDFKV
APSILKPRKV GLDL*
mutated AA sequence MDIDKDLEAP LYLTPEGWSL FLQRYYQVVH EGAELRHLDT QVQRCEDILQ QLQAVVPQID
MEGDRNIWIV KPGAKSRGRG IMCMDHLEEM LKLVNGNPVV MKDGKWVVQK YIERPLLIFG
TKFDLRQWFL VTDWNPLTVW FYRDSYIRFS TQPFSLKNLD NSVHLCNNSI QKHLENSCHR
HPLLPPDNMW SSQRFQAHLQ EMGAPNAWST IIVPGMKDAV IHALQTSQDT VQCRKASFEL
YGADFVFGED FQPWLIEINA SPTMAPSTAV TARLCAGVQA DTLRVVIDRR LDRNCDTGAF
ELIYKQPAVE VPQYVGIRLL VEGFTIKKPM AMCHRRMGVR PAVPLLTQRG SGEARHHFPS
LHTKAQLPSP HVLRHQGQVL RRQHSKLVGT KALSTTGKAL RTLPTAKVFI SLPPNLDFKV
APSILKPRKV GLDL*
speed 0.90 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