Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999994087 (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 ENST00000368191
Genbank transcript ID N/A
UniProt peptide Q96RD9
alteration type single base exchange
alteration region CDS
DNA changes c.1141G>A
cDNA.1272G>A
g.13429G>A
AA changes V381I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 381
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      381GPQRSKAVSLSVTVPVSHPVLTLS
mutated  all conserved    381GPQRSKAVSLSITVPVSHPVLTL
Ptroglodytes  all identical  ENSPTRG00000001487  466SLSVTVPVSRPVLSL
Mmulatta  no alignment  ENSMMUG00000008974  n/a
Fcatus  all identical  ENSFCAG00000010042  555GPQRSEAKSLSVKVPASRPVLTV
Mmusculus  all conserved  ENSMUSG00000048031  484SEAIRISI
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
380463DOMAINIg-like C2-type 4.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2025 / 2025
position (AA) of stopcodon in wt / mu AA sequence 675 / 675
position of stopcodon in wt / mu cDNA 2156 / 2156
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 132 / 132
chromosome 1
strand -1
last intron/exon boundary 1837
theoretical NMD boundary in CDS 1655
length of CDS 2025
coding sequence (CDS) position 1141
cDNA position
(for ins/del: last normal base / first normal base)		 1272
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 APVSGQFASL ILQAPLSVFE GDSVVLRCRA KAEVTLNNTI YKNDNVLAFL
NKRTDFHIPH ACLKDNGAYR CTGYKESCCP VSSNTVKIQV QEPFTRPVLR ASSFQPISGN
PVTLTCETQL SLERSDVPLR FRFFRDDQTL GLGWSLSPNF QITAMWSKDS GFYWCKAATM
PYSVISDSPR SWIQVQIPAS HPVLTLSPEK ALNFEGTKVT LHCETQEDSL RTLYRFYHEG
VPLRHKSVRC ERGASISFSL TTENSGNYYC TADNGLGAKP SKAVSLSVTV PVSHPVLNLS
SPEDLIFEGA KVTLHCEAQR GSLPILYQFH HEGAALERRS ANSAGGVAIS FSLTAEHSGN
YYCTADNGFG PQRSKAVSLS VTVPVSHPVL TLSSAEALTF EGATVTLHCE VQRGSPQILY
QFYHEDMPLW SSSTPSVGRV SFSFSLTEGH SGNYYCTADN GFGPQRSEVV SLFVTVPVSR
PILTLRVPRA QAVVGDLLEL HCEAPRGSPP ILYWFYHEDV TLGSSSAPSG GEASFNLSLT
AEHSGNYSCE ANNGLVAQHS DTISLSVIVP VSRPILTFRA PRAQAVVGDL LELHCEALRG
SSPILYWFYH EDVTLGKISA PSGGGASFNL SLTTEHSGIY SCEADNGLEA QRSEMVTLKV
AGEWALPTSS TSEN*
mutated AA sequence MLLWVILLVL APVSGQFASL ILQAPLSVFE GDSVVLRCRA KAEVTLNNTI YKNDNVLAFL
NKRTDFHIPH ACLKDNGAYR CTGYKESCCP VSSNTVKIQV QEPFTRPVLR ASSFQPISGN
PVTLTCETQL SLERSDVPLR FRFFRDDQTL GLGWSLSPNF QITAMWSKDS GFYWCKAATM
PYSVISDSPR SWIQVQIPAS HPVLTLSPEK ALNFEGTKVT LHCETQEDSL RTLYRFYHEG
VPLRHKSVRC ERGASISFSL TTENSGNYYC TADNGLGAKP SKAVSLSVTV PVSHPVLNLS
SPEDLIFEGA KVTLHCEAQR GSLPILYQFH HEGAALERRS ANSAGGVAIS FSLTAEHSGN
YYCTADNGFG PQRSKAVSLS ITVPVSHPVL TLSSAEALTF EGATVTLHCE VQRGSPQILY
QFYHEDMPLW SSSTPSVGRV SFSFSLTEGH SGNYYCTADN GFGPQRSEVV SLFVTVPVSR
PILTLRVPRA QAVVGDLLEL HCEAPRGSPP ILYWFYHEDV TLGSSSAPSG GEASFNLSLT
AEHSGNYSCE ANNGLVAQHS DTISLSVIVP VSRPILTFRA PRAQAVVGDL LELHCEALRG
SSPILYWFYH EDVTLGKISA PSGGGASFNL SLTTEHSGIY SCEADNGLEA QRSEMVTLKV
AGEWALPTSS TSEN*
speed 0.74 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