Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999996562074 (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) chr1:178489978T>GN/A show variant in all transcripts   IGV
HGNC symbol TEX35
Ensembl transcript ID ENST00000319416
Genbank transcript ID NM_032126
UniProt peptide Q5T0J7
alteration type single base exchange
alteration region CDS
DNA changes c.512T>G
cDNA.624T>G
g.7767T>G
AA changes L171R Score: 102 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 171
frameshift no
known variant Reference ID: rs3813636
databasehomozygous (G/G)heterozygousallele carriers
1000G36511181483
ExAC99611284522806
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0470.001
0.4390.012
(flanking)1.1660.021
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 32
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      171TMAPQKTKQGSLDPLHHCGTCCEK
mutated  not conserved    171TMAPQKTKQGSRDPLHHCGTC
Ptroglodytes  all identical  ENSPTRG00000001720  171TMAPQKTKQGSLDPLHHCGTC
Mmulatta  all identical  ENSMMUG00000021077  171TMAPQK-KQGSLDPLHECGPC
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000026592  169VVPPKPTR-NPLESLHPCQSC
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
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 702 / 702
position (AA) of stopcodon in wt / mu AA sequence 234 / 234
position of stopcodon in wt / mu cDNA 814 / 814
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 113 / 113
chromosome 1
strand 1
last intron/exon boundary 699
theoretical NMD boundary in CDS 536
length of CDS 702
coding sequence (CDS) position 512
cDNA position
(for ins/del: last normal base / first normal base)		 624
gDNA position
(for ins/del: last normal base / first normal base)		 7767
chromosomal position
(for ins/del: last normal base / first normal base)		 178489978
original gDNA sequence snippet AAAAACAAAACAGGGCTCACTGGATCCCCTTCATCACTGTG
altered gDNA sequence snippet AAAAACAAAACAGGGCTCACGGGATCCCCTTCATCACTGTG
original cDNA sequence snippet AAAAACAAAACAGGGCTCACTGGATCCCCTTCATCACTGTG
altered cDNA sequence snippet AAAAACAAAACAGGGCTCACGGGATCCCCTTCATCACTGTG
wildtype AA sequence MSAKRAELKK THLSKNYKAV CLELKPEPTK TFDYKAVKQE GRFTKAGVTQ DLKNELREVR
EELKEKMEEI KQIKDLMDKD FDKLHEFVEI MKEMQKDMDE KMDILINTQK NYKLPLRRAP
KEQQELRLMG KTHREPQLRP KKMDGASGVN GAPCALHKKT MAPQKTKQGS LDPLHHCGTC
CEKCLLCALK NNYNRGNIPS EASGLYKGGE EPVTTQPSVG HAVPAPKSQT EGR*
mutated AA sequence MSAKRAELKK THLSKNYKAV CLELKPEPTK TFDYKAVKQE GRFTKAGVTQ DLKNELREVR
EELKEKMEEI KQIKDLMDKD FDKLHEFVEI MKEMQKDMDE KMDILINTQK NYKLPLRRAP
KEQQELRLMG KTHREPQLRP KKMDGASGVN GAPCALHKKT MAPQKTKQGS RDPLHHCGTC
CEKCLLCALK NNYNRGNIPS EASGLYKGGE EPVTTQPSVG HAVPAPKSQT EGR*
speed 1.25 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