Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.869808646203672 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:118621664C>AN/A show variant in all transcripts   IGV
HGNC symbol IGSF11
Ensembl transcript ID ENST00000393775
Genbank transcript ID NM_001015887
UniProt peptide Q5DX21
alteration type single base exchange
alteration region CDS
DNA changes c.999G>T
cDNA.1305G>T
g.243252G>T
AA changes E333D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 333
frameshift no
known variant Reference ID: rs36052974
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC29821828321265
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)1.7571
1.9811
(flanking)1.4591
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 increased243255wt: 0.8415 / mu: 0.9028 (marginal change - not scored)wt: GAGTCAGTCAGCCAC
mu: GATTCAGTCAGCCAC		 GTCA|gtca
distance from splice site 145
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      333WSNNPKVHRNTESVSHFSDLGQSF
mutated  all conserved    333WSNNPKVHRNTDSVSHFSDLGQS
Ptroglodytes  all identical  ENSPTRG00000015248  333WSNNPKVHRNTESVNHFSDLGQS
Mmulatta  all identical  ENSMMUG00000008075  333WSNNPKVHRNTESVNHFSDLGQS
Fcatus  all identical  ENSFCAG00000011001  316WSNNPKVHRNTESLNHFSDL---
Mmusculus  all identical  ENSMUSG00000022790  333WNNNPKPHRNTESFNHFSDLRQS
Ggallus  all conserved  ENSGALG00000015084  335W-NDPKANHATDSFTRFSNSNDARQP
Trubripes  not conserved  ENSTRUG00000010310  333W-HNPKPSYDTNSYIHYNGDTRQT
Drerio  not conserved  ENSDARG00000017217  336W-HNPKPNYDTNSYTRYNGDTRQT
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000023033  262W-NSTKSNYSTGSYVHYNCNGCRQ
protein features
start (aa)end (aa)featuredetails 
263431TOPO_DOMCytoplasmic (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1296 / 1296
position (AA) of stopcodon in wt / mu AA sequence 432 / 432
position of stopcodon in wt / mu cDNA 1602 / 1602
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 307 / 307
chromosome 3
strand -1
last intron/exon boundary 1161
theoretical NMD boundary in CDS 804
length of CDS 1296
coding sequence (CDS) position 999
cDNA position
(for ins/del: last normal base / first normal base)		 1305
gDNA position
(for ins/del: last normal base / first normal base)		 243252
chromosomal position
(for ins/del: last normal base / first normal base)		 118621664
original gDNA sequence snippet AAAGTTCATAGAAACACAGAGTCAGTCAGCCACTTCAGTGA
altered gDNA sequence snippet AAAGTTCATAGAAACACAGATTCAGTCAGCCACTTCAGTGA
original cDNA sequence snippet AAAGTTCATAGAAACACAGAGTCAGTCAGCCACTTCAGTGA
altered cDNA sequence snippet AAAGTTCATAGAAACACAGATTCAGTCAGCCACTTCAGTGA
wildtype AA sequence MTSQRSPLAP LLLLSLHGVA ASLEVSESPG SIQVARGQPA VLPCTFTTSA ALINLNVIWM
VTPLSNANQP EQVILYQGGQ MFDGAPRFHG RVGFTGTMPA TNVSIFINNT QLSDTGTYQC
LVNNLPDIGG RNIGVTGLTV LVPPSAPHCQ IQGSQDIGSD VILLCSSEEG IPRPTYLWEK
LDNTLKLPPT ATQDQVQGTV TIRNISALSS GLYQCVASNA IGTSTCLLDL QVISPQPRNI
GLIAGAIGTG AVIIIFCIAL ILGAFFYWRS KNKEEEEEEI PNEIREDDLP PKCSSAKAFH
TEISSSDNNT LTSSNAYNSR YWSNNPKVHR NTESVSHFSD LGQSFSFHSG NANIPSIYAN
GTHLVPGQHK TLVVTANRGS SPQVMSRSNG SVSRKPRPPH THSYTISHAT LERIGAVPVM
VPAQSRAGSL V*
mutated AA sequence MTSQRSPLAP LLLLSLHGVA ASLEVSESPG SIQVARGQPA VLPCTFTTSA ALINLNVIWM
VTPLSNANQP EQVILYQGGQ MFDGAPRFHG RVGFTGTMPA TNVSIFINNT QLSDTGTYQC
LVNNLPDIGG RNIGVTGLTV LVPPSAPHCQ IQGSQDIGSD VILLCSSEEG IPRPTYLWEK
LDNTLKLPPT ATQDQVQGTV TIRNISALSS GLYQCVASNA IGTSTCLLDL QVISPQPRNI
GLIAGAIGTG AVIIIFCIAL ILGAFFYWRS KNKEEEEEEI PNEIREDDLP PKCSSAKAFH
TEISSSDNNT LTSSNAYNSR YWSNNPKVHR NTDSVSHFSD LGQSFSFHSG NANIPSIYAN
GTHLVPGQHK TLVVTANRGS SPQVMSRSNG SVSRKPRPPH THSYTISHAT LERIGAVPVM
VPAQSRAGSL V*
speed 0.56 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