Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999987 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:56423968A>CN/A show variant in all transcripts   IGV
HGNC symbol PCDH15
Ensembl transcript ID ENST00000395442
Genbank transcript ID N/A
UniProt peptide Q96QU1
alteration type single base exchange
alteration region CDS
DNA changes c.55T>G
cDNA.450T>G
g.963735T>G
AA changes S19A Score: 99 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 19
frameshift no
known variant Reference ID: rs11004439
databasehomozygous (C/C)heterozygousallele carriers
1000G90686776
ExAC30551969822753
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4890.001
0.150.001
(flanking)0.2170.002
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 37
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      19WTCLASGIILGSLFEICLGQYDDD
mutated  all conserved    19WTCLASGIILGALFEICLGQYDD
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000009794  19WTCLASGIILGSLVKICLGQYDD
Fcatus  all conserved  ENSFCAG00000010122  19WKCLASGIILGALSAVCFGQYDD
Mmusculus  all identical  ENSMUSG00000052613  19WKCLPHGILIASLLVVSWGQYDD
Ggallus  no alignment  ENSGALG00000002744  n/a
Trubripes  no alignment  ENSTRUG00000010819  n/a
Drerio  no alignment  ENSDARG00000008127  n/a
Dmelanogaster  no alignment  FBgn0039709  n/a
Celegans  no alignment  F15B9.7  n/a
Xtropicalis  no alignment  ENSXETG00000018945  n/a
protein features
start (aa)end (aa)featuredetails 
126SIGNALPotential.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1953 / 1953
position (AA) of stopcodon in wt / mu AA sequence 651 / 651
position of stopcodon in wt / mu cDNA 2348 / 2348
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 396 / 396
chromosome 10
strand -1
last intron/exon boundary 1494
theoretical NMD boundary in CDS 1048
length of CDS 1953
coding sequence (CDS) position 55
cDNA position
(for ins/del: last normal base / first normal base)		 450
gDNA position
(for ins/del: last normal base / first normal base)		 963735
chromosomal position
(for ins/del: last normal base / first normal base)		 56423968
original gDNA sequence snippet CTTCAGGGATCATCCTGGGCTCTCTCTTTGAAATCTGCTTG
altered gDNA sequence snippet CTTCAGGGATCATCCTGGGCGCTCTCTTTGAAATCTGCTTG
original cDNA sequence snippet CTTCAGGGATCATCCTGGGCTCTCTCTTTGAAATCTGCTTG
altered cDNA sequence snippet CTTCAGGGATCATCCTGGGCGCTCTCTTTGAAATCTGCTTG
wildtype AA sequence MFRQFYLWTC LASGIILGSL FEICLGQYDD DCKLARGGPP ATIVAIDEES RNGTILVDNM
LIKGTAGGPD PTIELSLKDN VDYWVLMDPV KQMLFLNSTG RVLDRDPPMN IHSIVVQVQC
INKKVGTIIY HEVRIVVRDR NDNSPTFKHE SYYATVNELT PVGTTIFTGF SGDNGATDID
DGPNGQIEYV IQYNPDDPTS NDTFEIPLML TGNIVLRKRL NYEDKTRYFV IIQANDRAQN
LNERRTTTTT LTVDVLDGDD LGPMFLPCVL VPNTRDCRPL TYQAAIPELR TPEELNPIIV
TPPIQAIDQD RNIQPPSDRP GILYSILVGT PEDYPRFFHM HPRTAELSLL EPVNRDFHQK
FDLVIKEEPK KIKKPKVEIR EPSEEEEVVV TIEKPPAAEP TYTTWKRARI FPMIFKKVRG
LADKRGIVDL EGEEWQRRLE EEDKDYLKLT LDQEEATEST VESEEESSSD YTEYSEEESE
FSESETTEEE SESETPSEEE ESSTPESEES ESTESEGEKA RKNIVLARRR PMVEEVKEVK
GRKEEPQEEQ KEPKMEEEEH SEEEESGPAP VEESTDPEAQ DIPEEGSAES ASVEGGVESE
EESESGSSSS SSESQSGGPW GYQVPAYDRS KNANQKKSPG ANSEGYNTAL *
mutated AA sequence MFRQFYLWTC LASGIILGAL FEICLGQYDD DCKLARGGPP ATIVAIDEES RNGTILVDNM
LIKGTAGGPD PTIELSLKDN VDYWVLMDPV KQMLFLNSTG RVLDRDPPMN IHSIVVQVQC
INKKVGTIIY HEVRIVVRDR NDNSPTFKHE SYYATVNELT PVGTTIFTGF SGDNGATDID
DGPNGQIEYV IQYNPDDPTS NDTFEIPLML TGNIVLRKRL NYEDKTRYFV IIQANDRAQN
LNERRTTTTT LTVDVLDGDD LGPMFLPCVL VPNTRDCRPL TYQAAIPELR TPEELNPIIV
TPPIQAIDQD RNIQPPSDRP GILYSILVGT PEDYPRFFHM HPRTAELSLL EPVNRDFHQK
FDLVIKEEPK KIKKPKVEIR EPSEEEEVVV TIEKPPAAEP TYTTWKRARI FPMIFKKVRG
LADKRGIVDL EGEEWQRRLE EEDKDYLKLT LDQEEATEST VESEEESSSD YTEYSEEESE
FSESETTEEE SESETPSEEE ESSTPESEES ESTESEGEKA RKNIVLARRR PMVEEVKEVK
GRKEEPQEEQ KEPKMEEEEH SEEEESGPAP VEESTDPEAQ DIPEEGSAES ASVEGGVESE
EESESGSSSS SSESQSGGPW GYQVPAYDRS KNANQKKSPG ANSEGYNTAL *
speed 1.25 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