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
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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 ENST00000354673
Genbank transcript ID NM_152538
UniProt peptide Q5DX21
alteration type single base exchange
alteration region CDS
DNA changes c.996G>T
cDNA.1377G>T
g.243252G>T
AA changes E332D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 332
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      332WSNNPKVHRNTESVSHFSDLGQSF
mutated  all conserved    332WSNNPKVHRNTDSVSHFSDLGQS
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 1293 / 1293
position (AA) of stopcodon in wt / mu AA sequence 431 / 431
position of stopcodon in wt / mu cDNA 1674 / 1674
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 382 / 382
chromosome 3
strand -1
last intron/exon boundary 1233
theoretical NMD boundary in CDS 801
length of CDS 1293
coding sequence (CDS) position 996
cDNA position
(for ins/del: last normal base / first normal base)		 1377
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 MSLVELLLWW NCFSRTGVAA SLEVSESPGS IQVARGQPAV LPCTFTTSAA LINLNVIWMV
TPLSNANQPE QVILYQGGQM FDGAPRFHGR VGFTGTMPAT NVSIFINNTQ LSDTGTYQCL
VNNLPDIGGR NIGVTGLTVL VPPSAPHCQI QGSQDIGSDV ILLCSSEEGI PRPTYLWEKL
DNTLKLPPTA TQDQVQGTVT IRNISALSSG LYQCVASNAI GTSTCLLDLQ VISPQPRNIG
LIAGAIGTGA VIIIFCIALI LGAFFYWRSK NKEEEEEEIP NEIREDDLPP KCSSAKAFHT
EISSSDNNTL TSSNAYNSRY WSNNPKVHRN TESVSHFSDL GQSFSFHSGN ANIPSIYANG
THLVPGQHKT LVVTANRGSS PQVMSRSNGS VSRKPRPPHT HSYTISHATL ERIGAVPVMV
PAQSRAGSLV *
mutated AA sequence MSLVELLLWW NCFSRTGVAA SLEVSESPGS IQVARGQPAV LPCTFTTSAA LINLNVIWMV
TPLSNANQPE QVILYQGGQM FDGAPRFHGR VGFTGTMPAT NVSIFINNTQ LSDTGTYQCL
VNNLPDIGGR NIGVTGLTVL VPPSAPHCQI QGSQDIGSDV ILLCSSEEGI PRPTYLWEKL
DNTLKLPPTA TQDQVQGTVT IRNISALSSG LYQCVASNAI GTSTCLLDLQ VISPQPRNIG
LIAGAIGTGA VIIIFCIALI LGAFFYWRSK NKEEEEEEIP NEIREDDLPP KCSSAKAFHT
EISSSDNNTL TSSNAYNSRY WSNNPKVHRN TDSVSHFSDL GQSFSFHSGN ANIPSIYANG
THLVPGQHKT LVVTANRGSS PQVMSRSNGS VSRKPRPPHT HSYTISHATL ERIGAVPVMV
PAQSRAGSLV *
speed 1.01 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