Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 2.58899940659565e-11 (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) chr5:140182101G>TN/A show variant in all transcripts   IGV
HGNC symbol PCDHA2
Ensembl transcript ID ENST00000526136
Genbank transcript ID NM_018905
UniProt peptide Q9Y5H9
alteration type single base exchange
alteration region intron
DNA changes g.7658G>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs7701755
databasehomozygous (T/T)heterozygousallele carriers
1000G91011422052
ExAC18302-383714465
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.160.992
1.2080.987
(flanking)0.3230.959
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc gained76690.42mu: CCACGGCCATCGTGTCCGTGGAGGTGGCCGACGTGAACGAC gtgg|AGGT
distance from splice site 5164
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
719948TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
734892REGION5 X 4 AA repeats of P-X-X-P.might get lost (downstream of altered splice site)
797800REPEATPXXP 2.might get lost (downstream of altered splice site)
830833REPEATPXXP 3.might get lost (downstream of altered splice site)
871874REPEATPXXP 4.might get lost (downstream of altered splice site)
889892REPEATPXXP 5.might get lost (downstream of altered splice site)
921928COMPBIASPoly-Lys.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 1 / 1
chromosome 5
strand 1
last intron/exon boundary 2537
theoretical NMD boundary in CDS 2486
length of CDS 2847
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)		 7658
chromosomal position
(for ins/del: last normal base / first normal base)		 140182101
original gDNA sequence snippet TTCACTGTGGGCCACGGCCAGCGTGTCCGTGGAGGTGGCCG
altered gDNA sequence snippet TTCACTGTGGGCCACGGCCATCGTGTCCGTGGAGGTGGCCG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MASSIRRGRG AWTRLLSLLL LAAWEVGSGQ LRYSVPEEAK HGTFVGRIAQ DLGLELEELV
PRLFRVASKR HGDLLEVNLQ NGILFVNSRI DREELCGRSA ECSIHVEVIV DRPLQVFHVE
VEVKDINDNP PIFPMTVKTI RFPESRLLDS RFPLEGASDA DIGVNALLSY KLSSSEFFFL
DIQANDELSE SLSLVLGKSL DREETAEVNL LLVATDGGKP ELTGTVQILI KVLDVNDNEP
TFAQSVYKVK LLENTANGTL VVKLNASDAD EGPNSEIVYS LGSDVSSTIQ TKFTIDPISG
EIRTKGKLDY EEAKSYEIQV TATDKGTPSM SGHCKISLKL VDINDNTPEV SITSLSLPIS
ENASLGTVIA LITVSDRDSG TNGHVTCSLT PHVPFKLVST FKNYYSLVLD SALDRESVSA
YELVVTARDG GSPSLWATTS VSIEVADVND NAPAFAQPEY TVFVKENNPP GCHIFTVSAW
DADAQENALV SYSLVERRVG ERALSSYVSV HAESGKVYAL QPLDHEEVEL LQFQVSARDA
GVPPLGSNVT LQVFVLDEND NAPALLAPRA GTAAGAVSEL VPWSVGAGHV VAKVRAVDAD
SGYNAWLSYE LQLGTGSARI PFRVGLYTGE ISTTRALDEA DSPRHRLLVL VKDHGEPALT
ATATVLVSLV ESGQAPKASS RAWVGAAGSE ATLVDVNVYL IIAICAVSSL LVLTVLLYTA
LRCSVPPTEG ARAPGKPTLV CSSAVGSWSY SQQRRQRVCS GEDPPKTDLM AFSPSLSQGP
DSAEEKQLSE SEYVGKPRQP NPDWRYSASL RAGMHSSVHL EEAGILRAGP GGPDQQWPTV
SSATPEPEAG EVSPPVGAGV NSNSWTFKYG PGNPKQSGPG ELPDKFIIPG SPAIISIRQE
PTNSQIDKSD FITFGKKEET KKKKKKKKGN KTQEKKEKGN STTDNSDQ*
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