Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999251 (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) chr5:140222641A>GN/A show variant in all transcripts   IGV
HGNC symbol PCDHA8
Ensembl transcript ID ENST00000378123
Genbank transcript ID NM_031856
UniProt peptide Q9Y5H6
alteration type single base exchange
alteration region CDS
DNA changes c.1735A>G
cDNA.1735A>G
g.1735A>G
AA changes K579E Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 579
frameshift no
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 increased1727wt: 0.3262 / mu: 0.3281 (marginal change - not scored)wt: TGGCGCAGCGAGCAA
mu: TGGCGCAGCGAGCGA		 GCGC|agcg
distance from splice site 711
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      579PRVGGTGGAASKLVPRSVGAGHVV
mutated  all conserved    579PRVGGTGGAASELVPRSVGAGHV
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000032691  578P-FYSTEPAVTEMVPRSSKVGQL
protein features
start (aa)end (aa)featuredetails 
30697TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2445 / 2445
position (AA) of stopcodon in wt / mu AA sequence 815 / 815
position of stopcodon in wt / mu cDNA 2445 / 2445
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 1
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 2445
coding sequence (CDS) position 1735
cDNA position
(for ins/del: last normal base / first normal base)		 1735
gDNA position
(for ins/del: last normal base / first normal base)		 1735
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 GCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTG
altered cDNA sequence snippet GCACTGGTGGCGCAGCGAGCGAGCTGGTGCCGCGGTCTGTG
wildtype AA sequence MDYHWRGELG SWRLLLLLLL LAAWKVGSGQ LHYSVPEEAK HGTFVGRIAQ DLGLELAELV
PRLFRVASKR HRDLLEVSLQ NGILFVNSRI DREELCGRSA ECSIHLEVIV DRPLQVFHVD
VEVKDVNDNP PVFRVKDQKL FVSESRMPDS RFPLEGASDA DVGANSVLTY RLSSHDYFML
DVNSKNDENK LVELVLRKSL DREDAPAHHL FLTATDGGKP ELTGTVQLLV TVLDVNDNAP
TFEQSEYEVR IFENADNGTT VIKLNASDPD EGANGAISYS FNSLVETMVI DHFSIDRNTG
EIVIRGNLDF EQENLYKILI DATDKGHPPM AGHCTVLVRI LDKNDNVPEI ALTSLSLPVR
EDAQFGTVIA LISVNDLDSG ANGQVTCSLM PHVPFKLVST FKNYYSLVLD SALDRERVSA
YELVVTARDG GSPSLWATAS LSVEVADVND NAPAFAQPEY TVFVKENNPP GCHIFTVSAR
DADAQENALV SYSLVERRVG ERSLSSYISV HTESGKVYAL QPLDHEELEL LQFQVSARDA
GVPPLGSNVT LQVFVLDEND NAPALLEPRV GGTGGAASKL VPRSVGAGHV VAKVRAVDAD
SGYNAWLSYE LQPAASSPRI PFRVGLYTGE ISTTRVLDEA DSPRHRLLVL VKDHGEPALT
ATATVLVSLV ESGQAPKASS RQSAGVLGPE AALVDVNVYL IIAICAVSSL LVLTLLLYTA
LRCSALPTEG GCRAGKPTLV CSSAVGSWSY SQQQPQRVCS GEGPPKTDLM AFSPCLPPDL
GSVDVGEEQD LNVDHGLKVS PFKFRTHKFY LWKL*
mutated AA sequence MDYHWRGELG SWRLLLLLLL LAAWKVGSGQ LHYSVPEEAK HGTFVGRIAQ DLGLELAELV
PRLFRVASKR HRDLLEVSLQ NGILFVNSRI DREELCGRSA ECSIHLEVIV DRPLQVFHVD
VEVKDVNDNP PVFRVKDQKL FVSESRMPDS RFPLEGASDA DVGANSVLTY RLSSHDYFML
DVNSKNDENK LVELVLRKSL DREDAPAHHL FLTATDGGKP ELTGTVQLLV TVLDVNDNAP
TFEQSEYEVR IFENADNGTT VIKLNASDPD EGANGAISYS FNSLVETMVI DHFSIDRNTG
EIVIRGNLDF EQENLYKILI DATDKGHPPM AGHCTVLVRI LDKNDNVPEI ALTSLSLPVR
EDAQFGTVIA LISVNDLDSG ANGQVTCSLM PHVPFKLVST FKNYYSLVLD SALDRERVSA
YELVVTARDG GSPSLWATAS LSVEVADVND NAPAFAQPEY TVFVKENNPP GCHIFTVSAR
DADAQENALV SYSLVERRVG ERSLSSYISV HTESGKVYAL QPLDHEELEL LQFQVSARDA
GVPPLGSNVT LQVFVLDEND NAPALLEPRV GGTGGAASEL VPRSVGAGHV VAKVRAVDAD
SGYNAWLSYE LQPAASSPRI PFRVGLYTGE ISTTRVLDEA DSPRHRLLVL VKDHGEPALT
ATATVLVSLV ESGQAPKASS RQSAGVLGPE AALVDVNVYL IIAICAVSSL LVLTLLLYTA
LRCSALPTEG GCRAGKPTLV CSSAVGSWSY SQQQPQRVCS GEGPPKTDLM AFSPCLPPDL
GSVDVGEEQD LNVDHGLKVS PFKFRTHKFY LWKL*
speed 1.45 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