Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999842325165 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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 ENST00000349570
Genbank transcript ID NM_031264
UniProt peptide Q9HBB8
alteration type single base exchange
alteration region intron
DNA changes g.7081C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
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 308
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
26669TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
476476CONFLICTS -> G (in Ref. 2; AAG33495 and 4; BAA91021).might get lost (downstream of altered splice site)
498498CONFLICTG -> E (in Ref. 2; AAG33495 and 4; BAA91021).might get lost (downstream of altered splice site)
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 N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 268 / 268
chromosome 11
strand -1
last intron/exon boundary 1804
theoretical NMD boundary in CDS 1486
length of CDS 1956
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
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 N/A
altered cDNA sequence snippet N/A
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 VSEQEPPSTG GGPSEDKRFS VVDMAALGGV
LGALLLLALL GLAVLVHKHY GPRLKCCCGK APEPQPQGFD NQAFLPDHKA NWAPVPSPTH
DPKPAEAPMP AEPAPPGPAS PGGAPEPPAA ARAGGSPTAV RSILTKERRP EGGYKAVWFG
EDIGTEADVV VLNAPTLDVD GASDSGSGDE GEGAGRGGGP YDAPGGDDSY I*
mutated AA sequence N/A
speed 0.46 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