Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999996439 (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) chr1:157508882C>TN/A show variant in all transcripts   IGV
HGNC symbol FCRL5
Ensembl transcript ID ENST00000368190
Genbank transcript ID N/A
UniProt peptide Q96RD9
alteration type single base exchange
alteration region CDS
DNA changes c.1396G>A
cDNA.1489G>A
g.13429G>A
AA changes V466I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 466
frameshift no
known variant Reference ID: rs6427384
databasehomozygous (T/T)heterozygousallele carriers
1000G13387962134
ExAC---
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.6570.016
-0.3370.001
(flanking)-2.0810
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally decreased13435wt: 0.9113 / mu: 0.9008 (marginal change - not scored)wt: CGGTGAGCCTCTCCGTCACTGGTAAGCCCTGGGTTCCTGCC
mu: CGGTGAGCCTCTCCATCACTGGTAAGCCCTGGGTTCCTGCC		 actg|GTAA
Donor marginally increased13434wt: 0.9981 / mu: 0.9984 (marginal change - not scored)wt: GTCACTGGTAAGCCC
mu: ATCACTGGTAAGCCC		 CACT|ggta
distance from splice site 7
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      466GPQRSKAVSLSVTVPVSHPVLTLS
mutated  all conserved    466GPQRSKAVSLSITVPVSHPVLTL
Ptroglodytes  all identical  ENSPTRG00000001487  466GPQRSKAVSLSVTVPVSRPVLSL
Mmulatta  no alignment  ENSMMUG00000008974  n/a
Fcatus  all identical  ENSFCAG00000010042  555GPQRSEAKSLSVKVPASRPVLTV
Mmusculus  all conserved  ENSMUSG00000048031  484GAQCSEAIRISI
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
16851TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2280 / 2280
position (AA) of stopcodon in wt / mu AA sequence 760 / 760
position of stopcodon in wt / mu cDNA 2373 / 2373
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 94 / 94
chromosome 1
strand -1
last intron/exon boundary 2054
theoretical NMD boundary in CDS 1910
length of CDS 2280
coding sequence (CDS) position 1396
cDNA position
(for ins/del: last normal base / first normal base)		 1489
gDNA position
(for ins/del: last normal base / first normal base)		 13429
chromosomal position
(for ins/del: last normal base / first normal base)		 157508882
original gDNA sequence snippet GTAAGGCGGTGAGCCTCTCCGTCACTGGTAAGCCCTGGGTT
altered gDNA sequence snippet GTAAGGCGGTGAGCCTCTCCATCACTGGTAAGCCCTGGGTT
original cDNA sequence snippet GTAAGGCGGTGAGCCTCTCCGTCACTGTCCCTGTGTCTCAT
altered cDNA sequence snippet GTAAGGCGGTGAGCCTCTCCATCACTGTCCCTGTGTCTCAT
wildtype AA sequence MLLWVILLVL APVSGQFART PRPIIFLQPP WTTVFQGERV TLTCKGFRFY SPQKTKWYHR
YLGKEILRET PDNILEVQES GEYRCQAQGS PLSSPVHLDF SSASLILQAP LSVFEGDSVV
LRCRAKAEVT LNNTIYKNDN VLAFLNKRTD FHIPHACLKD NGAYRCTGYK ESCCPVSSNT
VKIQVQEPFT RPVLRASSFQ PISGNPVTLT CETQLSLERS DVPLRFRFFR DDQTLGLGWS
LSPNFQITAM WSKDSGFYWC KAATMPYSVI SDSPRSWIQV QIPASHPVLT LSPEKALNFE
GTKVTLHCET QEDSLRTLYR FYHEGVPLRH KSVRCERGAS ISFSLTTENS GNYYCTADNG
LGAKPSKAVS LSVTVPVSHP VLNLSSPEDL IFEGAKVTLH CEAQRGSLPI LYQFHHEGAA
LERRSANSAG GVAISFSLTA EHSGNYYCTA DNGFGPQRSK AVSLSVTVPV SHPVLTLSSA
EALTFEGATV TLHCEVQRGS PQILYQFYHE DMPLWSSSTP SVGRVSFSFS LTEGHSGNYY
CTADNGFGPQ RSEVVSLFVT VPVSRPILTL RVPRAQAVVG DLLELHCEAP RGSPPILYWF
YHEDVTLGSS SAPSGGEASF NLSLTAEHSG NYSCEANNGL VAQHSDTISL SVIVPVSRPI
LTFRAPRAQA VVGDLLELHC EALRGSSPIL YWFYHEDVTL GKISAPSGGG ASFNLSLTTE
HSGIYSCEAD NGLEAQRSEM VTLKVAGEWA LPTSSTSEN*
mutated AA sequence MLLWVILLVL APVSGQFART PRPIIFLQPP WTTVFQGERV TLTCKGFRFY SPQKTKWYHR
YLGKEILRET PDNILEVQES GEYRCQAQGS PLSSPVHLDF SSASLILQAP LSVFEGDSVV
LRCRAKAEVT LNNTIYKNDN VLAFLNKRTD FHIPHACLKD NGAYRCTGYK ESCCPVSSNT
VKIQVQEPFT RPVLRASSFQ PISGNPVTLT CETQLSLERS DVPLRFRFFR DDQTLGLGWS
LSPNFQITAM WSKDSGFYWC KAATMPYSVI SDSPRSWIQV QIPASHPVLT LSPEKALNFE
GTKVTLHCET QEDSLRTLYR FYHEGVPLRH KSVRCERGAS ISFSLTTENS GNYYCTADNG
LGAKPSKAVS LSVTVPVSHP VLNLSSPEDL IFEGAKVTLH CEAQRGSLPI LYQFHHEGAA
LERRSANSAG GVAISFSLTA EHSGNYYCTA DNGFGPQRSK AVSLSITVPV SHPVLTLSSA
EALTFEGATV TLHCEVQRGS PQILYQFYHE DMPLWSSSTP SVGRVSFSFS LTEGHSGNYY
CTADNGFGPQ RSEVVSLFVT VPVSRPILTL RVPRAQAVVG DLLELHCEAP RGSPPILYWF
YHEDVTLGSS SAPSGGEASF NLSLTAEHSG NYSCEANNGL VAQHSDTISL SVIVPVSRPI
LTFRAPRAQA VVGDLLELHC EALRGSSPIL YWFYHEDVTL GKISAPSGGG ASFNLSLTTE
HSGIYSCEAD NGLEAQRSEM VTLKVAGEWA LPTSSTSEN*
speed 1.19 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