Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999231550583 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr21:38525356T>CN/A show variant in all transcripts   IGV
HGNC symbol TTC3
Ensembl transcript ID ENST00000540756
Genbank transcript ID N/A
UniProt peptide P53804
alteration type single base exchange
alteration region CDS
DNA changes c.1589T>C
cDNA.1758T>C
g.79831T>C
AA changes M530T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 530
frameshift no
known variant Reference ID: rs1053808
databasehomozygous (C/C)heterozygousallele carriers
1000G100011452145
ExAC19209-565113558
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.1210.953
-0.1030.888
(flanking)0.0660.894
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 increased79826wt: 0.9960 / mu: 0.9974 (marginal change - not scored)wt: AATACAGCCATGCTT
mu: AATACAGCCACGCTT		 TACA|gcca
Donor marginally increased79836wt: 0.6757 / mu: 0.6843 (marginal change - not scored)wt: TGCTTCTCAAAGAAT
mu: CGCTTCTCAAAGAAT		 CTTC|tcaa
distance from splice site 106
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      530DKIKSGIQNTAMLLKELLSWKVLS
mutated  not conserved    530DKIKSGIQNTATLLKELLSWKV
Ptroglodytes  not conserved  ENSPTRG00000013898  840DKIKSGIQNTATLLKELLSWKV
Mmulatta  not conserved  ENSMMUG00000017505  839DKIKSGIRNTATLLKELLSWKV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000040785  840DKIKSVVLNTSTLLKELLSWKV
Ggallus  not conserved  ENSGALG00000016050  782EQIKTAVRDASKLLKELLS
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000086075  278ALFKEEPVSISCFWEHLRPWLDLF
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1839 / 1839
position (AA) of stopcodon in wt / mu AA sequence 613 / 613
position of stopcodon in wt / mu cDNA 2008 / 2008
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 170 / 170
chromosome 21
strand 1
last intron/exon boundary 1653
theoretical NMD boundary in CDS 1433
length of CDS 1839
coding sequence (CDS) position 1589
cDNA position
(for ins/del: last normal base / first normal base)		 1758
gDNA position
(for ins/del: last normal base / first normal base)		 79831
chromosomal position
(for ins/del: last normal base / first normal base)		 38525356
original gDNA sequence snippet CGGCATACAGAATACAGCCATGCTTCTCAAAGAATTGCTTT
altered gDNA sequence snippet CGGCATACAGAATACAGCCACGCTTCTCAAAGAATTGCTTT
original cDNA sequence snippet CGGCATACAGAATACAGCCATGCTTCTCAAAGAATTGCTTT
altered cDNA sequence snippet CGGCATACAGAATACAGCCACGCTTCTCAAAGAATTGCTTT
wildtype AA sequence MLGEYDWALQ ANIKAQKLCK NDPEGIKDLI QQHVKLQKQI EDLQGRTANK DPIKAFYENR
AYTPRSLSAP IFTTSLNFVE KERDFRKINH EMANGGNQNL KVADEALKVD DCDCHPEFSP
PSSQPPKHKG KQKSRNNESE KFSSSSPLTL PADLKNILEK QFSKSSRAAH QDFANIMKML
RSLIQDGYMA LLEQRCRSAA QAFTELLNGL DPQKIKQLNL AMINYVLVVY GLAISLLGIG
QPEELSEAEN QFKRIIEHYP SEGLDCLAYC GIGKVYLKKN RFLEALNHFE KARTLIYRLP
GVLTWPTSNV IIEESQPQKI KMLLEKFVEE CKFPPVPDAI CCYQKCHGYS KIQIYITDPD
FKGFIRISCC QYCKIEFHMN CWKKLKTTTF NDKIDKDFLQ GICLTPDCEG VISKIIIFSS
GGEVKCEFEH KVIKEKVPPR PILKQKCSSL EKLRLKEDKK LKRKIQKKEA KKLAQERMEE
DLRESNPPKN EEQKETVDNV QRCQFLDDRI LQCIKQYADK IKSGIQNTAM LLKELLSWKV
LSTEDYTTCF SSRNFLNEAV DYVIRHLIQE NNRVKTRIFL HVLSELKEVE PKLAAWIQKL
NSFGMSLYIP EQ*
mutated AA sequence MLGEYDWALQ ANIKAQKLCK NDPEGIKDLI QQHVKLQKQI EDLQGRTANK DPIKAFYENR
AYTPRSLSAP IFTTSLNFVE KERDFRKINH EMANGGNQNL KVADEALKVD DCDCHPEFSP
PSSQPPKHKG KQKSRNNESE KFSSSSPLTL PADLKNILEK QFSKSSRAAH QDFANIMKML
RSLIQDGYMA LLEQRCRSAA QAFTELLNGL DPQKIKQLNL AMINYVLVVY GLAISLLGIG
QPEELSEAEN QFKRIIEHYP SEGLDCLAYC GIGKVYLKKN RFLEALNHFE KARTLIYRLP
GVLTWPTSNV IIEESQPQKI KMLLEKFVEE CKFPPVPDAI CCYQKCHGYS KIQIYITDPD
FKGFIRISCC QYCKIEFHMN CWKKLKTTTF NDKIDKDFLQ GICLTPDCEG VISKIIIFSS
GGEVKCEFEH KVIKEKVPPR PILKQKCSSL EKLRLKEDKK LKRKIQKKEA KKLAQERMEE
DLRESNPPKN EEQKETVDNV QRCQFLDDRI LQCIKQYADK IKSGIQNTAT LLKELLSWKV
LSTEDYTTCF SSRNFLNEAV DYVIRHLIQE NNRVKTRIFL HVLSELKEVE PKLAAWIQKL
NSFGMSLYIP EQ*
speed 1.21 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