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 ENST00000395433
Genbank transcript ID NM_001142768
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      19WTCLASGIILGSLFEICLGQYDDG
mutated  all conserved    19WTCLASGIILGALFEICLGQYDD
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000009794  19WTCLASGIILGSLVKICLGQYDDDCKLARGGPPATIVAIDEESRN
Fcatus  all conserved  ENSFCAG00000010122  19WKCLASGIILGALSAVCFGQYDDDCKLARGGPPATIVAIDEESRN
Mmusculus  all identical  ENSMUSG00000052613  19WKCLPHGILIASLLVVSWGQYDDDWQYEDCKLARGGPPATIVAIDEESRN
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 5799 / 5799
position (AA) of stopcodon in wt / mu AA sequence 1933 / 1933
position of stopcodon in wt / mu cDNA 6194 / 6194
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 4694
theoretical NMD boundary in CDS 4248
length of CDS 5799
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 GTILVDNMLI KGTAGGPDPT IELSLKDNVD
YWVLMDPVKQ MLFLNSTGRV LDRDPPMNIH SIVVQVQCIN KKVGTIIYHE VRIVVRDRND
NSPTFKHESY YATVNELTPV GTTIFTGFSG DNGATDIDDG PNGQIEYVIQ YNPDDPTSND
TFEIPLMLTG NIVLRKRLNY EDKTRYFVII QANDRAQNLN ERRTTTTTLT VDVLDGDDLG
PMFLPCVLVP NTRDCRPLTY QAAIPELRTP EELNPIIVTP PIQAIDQDRN IQPPSDRPGI
LYSILVGTPE DYPRFFHMHP RTAELSLLEP VNRDFHQKFD LVIKAEQDNG HPLPAFAGLH
IEILDENNQS PYFTMPSYQG YILESAPVGA TISDSLNLTS PLRIVALDKD IEDTKDPELH
LFLNDYTSVF TVTQTGITRY LTLLQPVDRE EQQTYTFSIT AFDGVQESEP VIVNIQVMDA
NDNTPTFPEI SYDVYVYTDM RPGDSVIQLT AVDADEGSNG EITYEILVGA QGDFIINKTT
GLITIAPGVE MIVGRTYALT VQAADNAPPA ERRNSICTVY IEVLPPNNQS PPRFPQLMYS
LEISEAMRVG AVLLNLQATD REGDSITYAI ENGDPQRVFN LSETTGILTL GKALDRESTD
RYILIITASD GRPDGTSTAT VNIVVTDVND NAPVFDPYLP RNLSVVEEEA NAFVGQVKAT
DPDAGINGQV HYSLGNFNNL FRITSNGSIY TAVKLNREVR DYYELVVVAT DGAVHPRHST
LTLAIKVLDI DDNSPVFTNS TYTVLVEENL PAGTTILQIE AKDVDLGANV SYRIRSPEVK
HFFALHPFTG ELSLLRSLDY EAFPDQEASI TFLVEAFDIY GTMPPGIATV TVIVKDMNDY
PPVFSKRIYK GMVAPDAVKG TPITTVYAED ADPPGLPASR VRYRVDDVQF PYPASIFEVE
EDSGRVITRV NLNEEPTTIF KLVVVAFDDG EPVMSSSATV KILVLHPGEI PRFTQEEYRP
PPVSELATKG TMVGVISAAA INQSIVYSIV SGNEEDTFGI NNITGVIYVN GPLDYETRTS
YVLRVQADSL EVVLANLRVP SKSNTAKVYI EIQDENNHPP VFQKKFYIGG VSEDARMFTS
VLRVKATDKD TGNYSVMAYR LIIPPIKEGK EGFVVETYTG LIKTAMLFHN MRRSYFKFQV
IATDDYGKGL SGKADVLVSV VNQLDMQVIV SNVPPTLVEK KIEDLTEILD RYVQEQIPGA
KVVVESIGAR RHGDAFSLED YTKCDLTVYA IDPQTNRAID RNELFKFLDG KLLDINKDFQ
PYYGEGGRIL EIRTPEAVTS IKKRGESLGY TEGALLALAF IIILCCIPAI LVVLVSYRQR
QAECTKTARI QAALPAAKPA VPAPAPVAAP PPPPPPPPGA HLYEELGDSS MHNLFLLYHF
QQSRGNNSVS EDRKHQQVVM PFSSNTIEAH KSAHVDGSLK SNKLKSARKF TFLSDEDDLS
AHNPLYKENI SQVSTNSDIS QRTDFVDPFS PKIQAKSKSL RGPREKIQRL WSQSVSLPRR
LMRKVPNRPE IIDLQQWQGT RQKAENENTG ICTNKRGSSN PLLTTEEANL TEKEEIRQGE
TLMIEGTEQL KSLSSDSSFC FPRPHFSFST LPTVSRTVEL KSEPNVISSP AECSLELSPS
RPCVLHSSLS RRETPICMLP IETERNIFEN FAHPPNISPS ACPLPPPPPI SPPSPPPAPA
PLAPPPDISP FSLFCPPPSP PSIPLPLPPP TFFPLSVSTS GPPTPPLLPP FPTPLPPPPP
SIPCPPPPSA SFLSTECVCI TGVKCTTNLM PAEKIKSSMT QLSTTTVCKT DPQREPKGIL
RHVKNLAELE KSVANMYSQI EKNYLRTNVS ELQTMCPSEV TNMEITSEQN KGSLNNIVEG
TEKQSHSQST SL*
mutated AA sequence MFRQFYLWTC LASGIILGAL FEICLGQYDD GTILVDNMLI KGTAGGPDPT IELSLKDNVD
YWVLMDPVKQ MLFLNSTGRV LDRDPPMNIH SIVVQVQCIN KKVGTIIYHE VRIVVRDRND
NSPTFKHESY YATVNELTPV GTTIFTGFSG DNGATDIDDG PNGQIEYVIQ YNPDDPTSND
TFEIPLMLTG NIVLRKRLNY EDKTRYFVII QANDRAQNLN ERRTTTTTLT VDVLDGDDLG
PMFLPCVLVP NTRDCRPLTY QAAIPELRTP EELNPIIVTP PIQAIDQDRN IQPPSDRPGI
LYSILVGTPE DYPRFFHMHP RTAELSLLEP VNRDFHQKFD LVIKAEQDNG HPLPAFAGLH
IEILDENNQS PYFTMPSYQG YILESAPVGA TISDSLNLTS PLRIVALDKD IEDTKDPELH
LFLNDYTSVF TVTQTGITRY LTLLQPVDRE EQQTYTFSIT AFDGVQESEP VIVNIQVMDA
NDNTPTFPEI SYDVYVYTDM RPGDSVIQLT AVDADEGSNG EITYEILVGA QGDFIINKTT
GLITIAPGVE MIVGRTYALT VQAADNAPPA ERRNSICTVY IEVLPPNNQS PPRFPQLMYS
LEISEAMRVG AVLLNLQATD REGDSITYAI ENGDPQRVFN LSETTGILTL GKALDRESTD
RYILIITASD GRPDGTSTAT VNIVVTDVND NAPVFDPYLP RNLSVVEEEA NAFVGQVKAT
DPDAGINGQV HYSLGNFNNL FRITSNGSIY TAVKLNREVR DYYELVVVAT DGAVHPRHST
LTLAIKVLDI DDNSPVFTNS TYTVLVEENL PAGTTILQIE AKDVDLGANV SYRIRSPEVK
HFFALHPFTG ELSLLRSLDY EAFPDQEASI TFLVEAFDIY GTMPPGIATV TVIVKDMNDY
PPVFSKRIYK GMVAPDAVKG TPITTVYAED ADPPGLPASR VRYRVDDVQF PYPASIFEVE
EDSGRVITRV NLNEEPTTIF KLVVVAFDDG EPVMSSSATV KILVLHPGEI PRFTQEEYRP
PPVSELATKG TMVGVISAAA INQSIVYSIV SGNEEDTFGI NNITGVIYVN GPLDYETRTS
YVLRVQADSL EVVLANLRVP SKSNTAKVYI EIQDENNHPP VFQKKFYIGG VSEDARMFTS
VLRVKATDKD TGNYSVMAYR LIIPPIKEGK EGFVVETYTG LIKTAMLFHN MRRSYFKFQV
IATDDYGKGL SGKADVLVSV VNQLDMQVIV SNVPPTLVEK KIEDLTEILD RYVQEQIPGA
KVVVESIGAR RHGDAFSLED YTKCDLTVYA IDPQTNRAID RNELFKFLDG KLLDINKDFQ
PYYGEGGRIL EIRTPEAVTS IKKRGESLGY TEGALLALAF IIILCCIPAI LVVLVSYRQR
QAECTKTARI QAALPAAKPA VPAPAPVAAP PPPPPPPPGA HLYEELGDSS MHNLFLLYHF
QQSRGNNSVS EDRKHQQVVM PFSSNTIEAH KSAHVDGSLK SNKLKSARKF TFLSDEDDLS
AHNPLYKENI SQVSTNSDIS QRTDFVDPFS PKIQAKSKSL RGPREKIQRL WSQSVSLPRR
LMRKVPNRPE IIDLQQWQGT RQKAENENTG ICTNKRGSSN PLLTTEEANL TEKEEIRQGE
TLMIEGTEQL KSLSSDSSFC FPRPHFSFST LPTVSRTVEL KSEPNVISSP AECSLELSPS
RPCVLHSSLS RRETPICMLP IETERNIFEN FAHPPNISPS ACPLPPPPPI SPPSPPPAPA
PLAPPPDISP FSLFCPPPSP PSIPLPLPPP TFFPLSVSTS GPPTPPLLPP FPTPLPPPPP
SIPCPPPPSA SFLSTECVCI TGVKCTTNLM PAEKIKSSMT QLSTTTVCKT DPQREPKGIL
RHVKNLAELE KSVANMYSQI EKNYLRTNVS ELQTMCPSEV TNMEITSEQN KGSLNNIVEG
TEKQSHSQST SL*
speed 1.13 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