Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999631286925 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:140222641A>GN/A show variant in all transcripts   IGV
HGNC symbol PCDHA5
Ensembl transcript ID ENST00000529619
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.21420A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs6580012
databasehomozygous (G/G)heterozygousallele carriers
1000G93510121947
ExAC17669-257115098
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1150
0.3660.003
(flanking)1.0340.004
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased21412wt: 0.3262 / mu: 0.3281 (marginal change - not scored)wt: TGGCGCAGCGAGCAA
mu: TGGCGCAGCGAGCGA		 GCGC|agcg
distance from splice site 18929
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 140 / 140
chromosome 5
strand 1
last intron/exon boundary 2742
theoretical NMD boundary in CDS 2552
length of CDS 2673
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)		 21420
chromosomal position
(for ins/del: last normal base / first normal base)		 140222641
original gDNA sequence snippet GCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTG
altered gDNA sequence snippet GCACTGGTGGCGCAGCGAGCGAGCTGGTGCCGCGGTCTGTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MVYSRRGSLG SRLLLLWLLL AYWKAGSGQL HYSIPEEAKH GTFVGRIAQD LGLELAELVP
RLFRVASKGR GDLLEVNLQN GILFVNSRID REELCRRRAE CSIHLEVIVD RPLQVFHVEV
AVKDINDNPP RFSRQEQRLF ILESRMPDSR FPLEGASDLD IGANAQLRYR LNPNEYFDLD
VKTNEEETNF LELVLRKSLD REETQEHRLL VIATDGGKPE LTGTVQLLIN VLDANDNAPE
FDKSIYNVRL LENAPSGTLV IKLNASDADE GINKEIVYFF SNLVLDDVKS KFIINSNTGE
IKVNGELDYE DYNSYEINID AMDKSTFPLS GHCKVVVKLL DVNDNTPEMA ITTLFLPVKE
DAPLSTVIAL ISVSDRDSGA NGQVTCSLMP HVPFKLVSTF KNYYSLVLDS ALDRESVSVY
ELVVTARDGG SPSLWATASV SVEVADVNDN APAFAQPQYT VFVKENNPPG CHIFTVSARD
ADAQENALVS YSLVERRVGE RPLSSYVSVH AESGKVYALQ PLDHEEVELL QFQVSARDAG
VPPLGSNVTL QVFVLDENDN APALLVPRVG GTGGAVSELV PRSVGAGHVV AKVRAVDPDS
GYNAWLSYEL QPAPGSARIP FRVGLYTGEI STTRSLDETE APRHRLLVLV KDHGEPPLTA
TATVLVSLVE SGQAPKASSR ASAGAVGPEA ALVDVNVYLI IAICAVSSLL VLTLLLYTAL
RCSAQPTEAV CTRGKPTLLC SSAVGSWSYS QQRRQRVCSG EAPPKTDLMA FSPSLPQGPT
STDNPRQPNP DWRYSASLRA GMHSSVHLEE AGILRAGPGG PDQQWPTVSS ATPEPEAGEV
SPPVGAGVNS NSWTFKYGPG NPKQSGPEPK KQTQVSFLLR RKGEASQPRQ *
mutated AA sequence N/A
speed 1.00 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