Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999992715 (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
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:618998G>AN/A show variant in all transcripts   IGV
HGNC symbol CDHR5
Ensembl transcript ID ENST00000358353
Genbank transcript ID N/A
UniProt peptide Q9HBB8
alteration type single base exchange
alteration region CDS
DNA changes c.1561C>T
cDNA.1884C>T
g.7081C>T
AA changes P521S Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 521
frameshift no
known variant Reference ID: rs2740375
databasehomozygous (A/A)heterozygousallele carriers
1000G69111211812
ExAC18600-443314167
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4960.005
0.4190.003
(flanking)-1.2640
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 increased7074wt: 0.4567 / mu: 0.5095 (marginal change - not scored)wt: CCACCAACCTCGTCCACACCCGGGGGGCCCCCGGGTGCAGA
mu: CCACCAACCTCGTCCACACCCGGGGGGTCCCCGGGTGCAGA		 accc|GGGG
Donor increased7074wt: 0.63 / mu: 0.92wt: ACACCCGGGGGGCCC
mu: ACACCCGGGGGGTCC		 ACCC|gggg
distance from splice site 183
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      521LRPPTSSTPGGPPGAENSTSHQPA
mutated  not conserved    521LRPPTSSTPGGSPGAENSTSHQP
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000004024  521LRPPTSSTPGRPPGVGTSTSHQP
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000025497  524LRPPTPASSIPGGSPTLGTSTSPQT
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 
26669TOPO_DOMExtracellular (Potential).lost
526526CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
540570REPEAT1.might get lost (downstream of altered splice site)
540645REGION4 X 31 AA approximate tandem repeats.might get lost (downstream of altered splice site)
571571CONFLICTA -> V (in Ref. 1; AAG16733, 2; AAG33495 and 4; BAA91021).might get lost (downstream of altered splice site)
571601REPEAT2.might get lost (downstream of altered splice site)
602631REPEAT3.might get lost (downstream of altered splice site)
632645REPEAT4; truncated.might get lost (downstream of altered splice site)
670690TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
691845TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
807807CONFLICTN -> S (in Ref. 2; AAG30821/AAG33495 and 4; BAA91130).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2538 / 2538
position (AA) of stopcodon in wt / mu AA sequence 846 / 846
position of stopcodon in wt / mu cDNA 2861 / 2861
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 324 / 324
chromosome 11
strand -1
last intron/exon boundary 2442
theoretical NMD boundary in CDS 2068
length of CDS 2538
coding sequence (CDS) position 1561
cDNA position
(for ins/del: last normal base / first normal base)		 1884
gDNA position
(for ins/del: last normal base / first normal base)		 7081
chromosomal position
(for ins/del: last normal base / first normal base)		 618998
original gDNA sequence snippet CCTCGTCCACACCCGGGGGGCCCCCGGGTGCAGAAAACAGC
altered gDNA sequence snippet CCTCGTCCACACCCGGGGGGTCCCCGGGTGCAGAAAACAGC
original cDNA sequence snippet CCTCGTCCACACCCGGGGGGCCCCCGGGTGCAGAAAACAGC
altered cDNA sequence snippet CCTCGTCCACACCCGGGGGGTCCCCGGGTGCAGAAAACAGC
wildtype AA sequence MGSWALLWPP LLFTGLLVRP PGTMAQAQYC SVNKDIFEVE ENTNVTEPLV DIHVPEGQEV
TLGALSTPFA FRIQGNQLFL NVTPDYEEKS LLEAQLLCQS GGTLVTQLRV FVSVLDVNDN
APEFPFKTKE IRVEEDTKVN STVIPETQLQ AEDRDKDDIL FYTLQEMTAG ASDYFSLVSV
NRPALRLDRP LDFYERPNMT FWLLVRDTPG ENVEPSHTAT ATLVLNVVPA DLRPPWFLPC
TFSDGYVCIQ AQYHGAVPTG HILPSPLVLR PGPIYAEDGD RGINQPIIYS IFRGNVNGTF
IIHPDSGNLT VARSVPSPMT FLLLVKGQQA DLARYSVTQV TVEAVAAAGS PPRFPQRLYR
GTVARGAGAG VVVKDAAAPS QPLRIQAQDP EFSDLNSAIT YRITNHSHFR MEGEVVLTTT
TLAQAGAFYA EVEAHNTVTS GTATTVIEIQ VSEQEPPSTD VPPSPEAGGT TGPWTSTTSE
VPRPPEPSQG PSTTSSGGGT GPHPPSGTTL RPPTSSTPGG PPGAENSTSH QPATPGGDTA
QTPKPGTSQP MPPGVGTSTS HQPATPSGGT AQTPEPGTSQ PMPPSMGTST SHQPATPGGG
TAQTPEAGTS QPMPPGMGTS TSHQPTTPGG GTAQTPEPGT SQPMPLSKST PSSGGGPSED
KRFSVVDMAA LGGVLGALLL LALLGLAVLV HKHYGPRLKC CCGKAPEPQP QGFDNQAFLP
DHKANWAPVP SPTHDPKPAE APMPAEPAPP GPASPGGAPE PPAAARAGGS PTAVRSILTK
ERRPEGGYKA VWFGEDIGTE ADVVVLNAPT LDVDGASDSG SGDEGEGAGR GGGPYDAPGG
DDSYI*
mutated AA sequence MGSWALLWPP LLFTGLLVRP PGTMAQAQYC SVNKDIFEVE ENTNVTEPLV DIHVPEGQEV
TLGALSTPFA FRIQGNQLFL NVTPDYEEKS LLEAQLLCQS GGTLVTQLRV FVSVLDVNDN
APEFPFKTKE IRVEEDTKVN STVIPETQLQ AEDRDKDDIL FYTLQEMTAG ASDYFSLVSV
NRPALRLDRP LDFYERPNMT FWLLVRDTPG ENVEPSHTAT ATLVLNVVPA DLRPPWFLPC
TFSDGYVCIQ AQYHGAVPTG HILPSPLVLR PGPIYAEDGD RGINQPIIYS IFRGNVNGTF
IIHPDSGNLT VARSVPSPMT FLLLVKGQQA DLARYSVTQV TVEAVAAAGS PPRFPQRLYR
GTVARGAGAG VVVKDAAAPS QPLRIQAQDP EFSDLNSAIT YRITNHSHFR MEGEVVLTTT
TLAQAGAFYA EVEAHNTVTS GTATTVIEIQ VSEQEPPSTD VPPSPEAGGT TGPWTSTTSE
VPRPPEPSQG PSTTSSGGGT GPHPPSGTTL RPPTSSTPGG SPGAENSTSH QPATPGGDTA
QTPKPGTSQP MPPGVGTSTS HQPATPSGGT AQTPEPGTSQ PMPPSMGTST SHQPATPGGG
TAQTPEAGTS QPMPPGMGTS TSHQPTTPGG GTAQTPEPGT SQPMPLSKST PSSGGGPSED
KRFSVVDMAA LGGVLGALLL LALLGLAVLV HKHYGPRLKC CCGKAPEPQP QGFDNQAFLP
DHKANWAPVP SPTHDPKPAE APMPAEPAPP GPASPGGAPE PPAAARAGGS PTAVRSILTK
ERRPEGGYKA VWFGEDIGTE ADVVVLNAPT LDVDGASDSG SGDEGEGAGR GGGPYDAPGG
DDSYI*
speed 1.04 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